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 AGRN 375790 genome.wustl.edu 37 1 981346 981346 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198576.2 +1 validated p.A895T 0.710 23 0% 33 48.5% 74 45.9% benign(0.004) tolerated(0.21) neutral(0.044) superfamily_SSF57196 AGRN 375790 genome.wustl.edu 37 1 981460 981460 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198576.2 +1 validated p.A933T 0.106 49 0% 61 26.2% 72 29.1% benign(0.382) tolerated(0.57) neutral(0.128) HMMPfam_Kazal_1,HMMSmart_KAZAL,superfamily_SSF100895 AGRN 375790 genome.wustl.edu 37 1 982726 982726 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198576.2 +1 validated p.G1136 0.716 4 0.000 11 0.545 39 46.1% - - - HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 C1orf159 54991 genome.wustl.edu 37 1 1019726 1019726 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000379339 -1 known p.S206N 0.006 15 0% 14 42.9% 1 0% unknown(0) tolerated(0.24) - NULL GLTPD1 80772 genome.wustl.edu 37 1 1263026 1263026 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029885.1 +1 validated p.N176 0.918 6 0.000 9 0.778 45 33.3% - - - HMMPfam_GLTP,superfamily_Glycolipid_transfer_prot TAS1R3 83756 genome.wustl.edu 37 1 1269072 1269072 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152228.1 +1 provisional p.S596N 0.266 5 0.000 11 0.364 2 50% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_7tm_3 TAS1R3 83756 genome.wustl.edu 37 1 1269210 1269210 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152228.1 +1 provisional p.L642P 1.000 4 0.000 12 0.583 3 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_3 LOC100288202 100288202 genome.wustl.edu 37 1 1289876 1289876 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342019.1 +1 model p.R101C 0.088 4 0.000 9 0.556 8 37.5% - - - NULL CCNL2 81669 genome.wustl.edu 37 1 1323235 1323235 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030937.4 -1 validated p.R378Q 0.921 11 0% 23 65.2% 90 56.6% benign(0.017) tolerated(0.49) neutral(0.011) NULL CCNL2 81669 genome.wustl.edu 37 1 1333632 1333632 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030937.4 -1 validated p.R152* 0.831 100 0% 94 37.2% 39 48.7% - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like CCNL2 81669 genome.wustl.edu 37 1 1333709 1333709 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030937.4 -1 validated p.A126D 1.000 82 0% 67 43.3% 34 47% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like ATAD3A 55210 genome.wustl.edu 37 1 1461868 1461868 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018188.3 +1 validated p.T480A 1.000 40 0% 37 37.8% 53 37.7% benign(0.004) tolerated(1) - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD3A 55210 genome.wustl.edu 37 1 1464610 1464610 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018188.3 +1 validated p.K553E 1.000 19 0% 22 50% 64 34.3% benign(0.212) tolerated(0.21) neutral(0.065) HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC35E2 9906 genome.wustl.edu 37 1 1607635 1607635 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001110781.1 -1 validated p.A109V 0.997 63 0% 60 65% 36 47.2% benign(0.178) tolerated(0.51) neutral(0.026) NULL CALML6 163688 genome.wustl.edu 37 1 1847964 1847964 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138705.2 +1 validated p.T55A 0.575 36 0% 42 28.6% 1 0% benign(0.047) tolerated(0.07) neutral(0.322) HMMSmart_EFh,superfamily_SSF47473 CALML6 163688 genome.wustl.edu 37 1 1848286 1848286 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138705.2 +1 validated p.R117C 0.050 45 0% 25 40% 1 0% benign(0.007) deleterious(0) neutral(0.445) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 KIAA1751 85452 genome.wustl.edu 37 1 1897932 1897932 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080484.1 -1 predicted p.R427W 0.001 14 0% 15 40% 0 - benign(0.084) deleterious(0.02) neutral(0.389) NULL KIAA1751 85452 genome.wustl.edu 37 1 1904461 1904461 + Missense_Mutation SNP G G T rs182415144 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080484.1 -1 predicted p.L234I 0.149 22 0% 28 46.4% 0 - possibly_damaging(0.838) tolerated(0.44) neutral(0.333) NULL GABRD 2563 genome.wustl.edu 37 1 1956796 1956796 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000815.4 +1 reviewed p.A69T 0.984 22 0% 14 42.9% 2 0% benign(0.002) tolerated(0.22) neutral(0.042) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRD 2563 genome.wustl.edu 37 1 1961053 1961053 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000815.4 +1 reviewed p.A304V 0.997 32 0% 17 29.4% 1 0% benign(0.009) tolerated(0.34) neutral(0.024) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM C1orf86 199990 genome.wustl.edu 37 1 2132527 2132527 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000378558 -1 known p.A4V 0.002 23 0% 24 58.3% 0 - - - - NULL PLCH2 9651 genome.wustl.edu 37 1 2435904 2435904 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014638.2 +1 provisional p.S1168N 0.000 23 0% 32 40.6% 4 50% benign(0.184) deleterious(0.01) neutral(0.423) NULL PANK4 55229 genome.wustl.edu 37 1 2452731 2452731 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018216.1 -1 reviewed p.P77 0.501 117 0% 87 52.9% 22 59% - - - HMMPfam_Fumble PRDM16 63976 genome.wustl.edu 37 1 3335260 3335260 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022114.3 +1 reviewed p.A963V 1.000 28 0% 34 44.1% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TPRG1L 127262 genome.wustl.edu 37 1 3542422 3542422 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182752.3 +1 validated p.E147* 1.000 47 0% 46 43.5% 25 20% - - - NULL CCDC27 148870 genome.wustl.edu 37 1 3683814 3683814 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152492.2 +1 validated p.E516D 0.213 31 0% 25 32% 0 - possibly_damaging(0.794) tolerated(0.18) neutral(0.354) NULL LRRC47 57470 genome.wustl.edu 37 1 3703548 3703548 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020710.2 -1 validated p.V314 0.081 22 0% 25 48% 41 85.3% - - - NULL LRRC47 57470 genome.wustl.edu 37 1 3712464 3712464 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020710.2 -1 validated p.E193* 0.659 5 0.000 8 0.750 22 13.6% - - - superfamily_SSF52047 DFFB 1677 genome.wustl.edu 37 1 3782395 3782395 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004402.2 +1 reviewed p.R87 0.941 14 0% 15 46.7% 3 33.3% - - - superfamily_His-Me finger endonucleases C1orf174 339448 genome.wustl.edu 37 1 3807283 3807283 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207356.2 -1 validated p.S156 0.009 75 0% 57 24.6% 55 20% - - - NULL NPHP4 261734 genome.wustl.edu 37 1 5925255 5925255 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015102.2 -1 reviewed p.V1241 0.445 9 0.000 8 0.500 12 50% - - - NULL CHD5 26038 genome.wustl.edu 37 1 6186717 6186717 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015557.1 -1 provisional p.Q1331H 1.000 20 0% 27 40.7% 0 - benign(0.028) tolerated(0.42) neutral(0.015) HMMPfam_DUF1087 CHD5 26038 genome.wustl.edu 37 1 6190296 6190296 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015557.1 -1 provisional p.D1119N 1.000 16 0% 18 44.4% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 CHD5 26038 genome.wustl.edu 37 1 6194221 6194221 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015557.1 -1 provisional p.R1037 1.000 21 0% 19 31.6% 0 - - - - superfamily_SSF52540 CHD5 26038 genome.wustl.edu 37 1 6203922 6203922 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015557.1 -1 provisional p.D668 0.001 49 0% 59 35.6% 0 - - - - superfamily_SSF52540 CHD5 26038 genome.wustl.edu 37 1 6219495 6219495 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015557.1 -1 provisional p.N96 0.936 584 0% 413 15.7% 0 - - - - NULL RPL22 6146 genome.wustl.edu 37 1 6246817 6246817 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000983.3 -1 reviewed p.R101H 1.000 194 0.5% 112 40.2% 534 40.2% possibly_damaging(0.44) deleterious(0.03) deleterious(0.508) HMMPfam_Ribosomal_L22e ACOT7 11332 genome.wustl.edu 37 1 6341327 6341327 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000377860 -1 known p.G276R 0.237 15 0% 25 48% 68 42.6% probably_damaging(0.996) - - NULL ESPN 83715 genome.wustl.edu 37 1 6488371 6488371 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031475.2 +1 reviewed p.G127D 0.952 24 0% 20 50% 1 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PLEKHG5 57449 genome.wustl.edu 37 1 6528159 6528159 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198681.2 -1 reviewed p.G990C 0.000 5 0.000 10 0.500 11 45.4% benign(0.014) deleterious(0.03) neutral(0.365) NULL TAS1R1 80835 genome.wustl.edu 37 1 6634810 6634810 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000411823 +1 known p.S132L 0.686 39 2.6% 36 38.9% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I TAS1R1 80835 genome.wustl.edu 37 1 6638795 6638795 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138697.3 +1 reviewed p.F559L 0.993 30 3.3% 34 55.9% 1 0% benign(0.309) tolerated(0.23) neutral(0.138) NULL TAS1R1 80835 genome.wustl.edu 37 1 6639441 6639441 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138697.3 +1 reviewed p.A775T 0.717 57 0% 56 41.1% 0 - benign(0.001) tolerated(0.87) neutral(0.001) HMMPfam_7tm_3 THAP3 90326 genome.wustl.edu 37 1 6690366 6690366 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138350.2 +1 provisional p.D96N 0.981 60 0% 61 39.3% 24 45.8% possibly_damaging(0.728) tolerated(0.48) neutral(0.276) NULL DNAJC11 55735 genome.wustl.edu 37 1 6711620 6711620 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018198.3 -1 validated p.L225I 0.998 211 0% 104 47.1% 13 53.8% benign(0.016) tolerated(0.24) neutral(0.038) NULL CAMTA1 23261 genome.wustl.edu 37 1 7723927 7723927 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015215.1 +1 validated p.H440 1.000 37 0% 28 32.1% 0 - - - - NULL CAMTA1 23261 genome.wustl.edu 37 1 7797008 7797008 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015215.1 +1 validated p.S1094I 1.000 212 0% 151 45.7% 0 - probably_damaging(1) tolerated(0.36) deleterious(0.520) superfamily_Ankyrin repeat CAMTA1 23261 genome.wustl.edu 37 1 7798021 7798021 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015215.1 +1 validated p.L1221M 1.000 116 0% 51 51% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CAMTA1 23261 genome.wustl.edu 37 1 7826532 7826532 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015215.1 +1 validated p.E1668G 1.000 314 0% 199 35.7% 0 - possibly_damaging(0.865) deleterious(0.03) deleterious(0.700) NULL PER3 8863 genome.wustl.edu 37 1 7858689 7858689 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016831.1 +1 reviewed p.P249H 0.830 145 0% 82 40.2% 2 50% probably_damaging(0.997) tolerated(0.57) deleterious(0.472) NULL PER3 8863 genome.wustl.edu 37 1 7895931 7895931 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016831.1 +1 reviewed p.V1099 0.000 128 0% 81 61.7% 2 50% - - - NULL ERRFI1 54206 genome.wustl.edu 37 1 8073739 8073739 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018948.3 -1 validated p.S307L 0.988 176 0% 104 44.2% 55 58.1% probably_damaging(0.99) tolerated(0.12) deleterious(0.702) NULL SLC45A1 50651 genome.wustl.edu 37 1 8390848 8390848 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080397.1 +1 provisional p.G432V 0.983 15 0% 12 66.7% 1 0% benign(0.002) tolerated(0.1) neutral(0.286) NULL RERE 473 genome.wustl.edu 37 1 8526066 8526066 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042681.1 -1 reviewed p.Y374 0.920 40 2.5% 27 25.9% 19 47.3% - - - NULL CA6 765 genome.wustl.edu 37 1 9009386 9009386 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001215.2 +1 reviewed p.S48 0.073 25 0% 21 47.6% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd SLC2A7 155184 genome.wustl.edu 37 1 9075184 9075184 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207420.2 -1 provisional p.A236V 0.619 23 0% 22 40.9% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter SLC2A7 155184 genome.wustl.edu 37 1 9075295 9075295 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207420.2 -1 provisional p.P199L 0.997 24 0% 12 66.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter SLC2A7 155184 genome.wustl.edu 37 1 9079292 9079292 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207420.2 -1 provisional p.R138* 0.160 50 0% 32 40.6% 0 - - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter H6PD 9563 genome.wustl.edu 37 1 9305619 9305619 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004285.3 +1 reviewed p.Q209R 1.000 13 0% 15 26.7% 6 50% benign(0.424) deleterious(0.03) deleterious(0.502) HMMPfam_G6PD_N,superfamily_NAD(P)-bd,PatternScan_G6P_DEHYDROGENASE,superfamily_SSF55347 TMEM201 199953 genome.wustl.edu 37 1 9656060 9656060 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130924.2 +1 validated p.F76V 1.000 12 0% 14 57.1% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2349 TMEM201 199953 genome.wustl.edu 37 1 9670662 9670662 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130924.2 +1 validated p.R498C 1.000 13 0% 22 54.5% 17 47% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C1orf200 644997 genome.wustl.edu 37 1 9713991 9713991 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000377320 -1 known p.R117H 0.000 84 0% 80 42.5% 0 - possibly_damaging(0.865) - - NULL PIK3CD 5293 genome.wustl.edu 37 1 9770516 9770516 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005026.3 +1 validated p.M1I 1.000 62 0% 33 48.5% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CLSTN1 22883 genome.wustl.edu 37 1 9809669 9809669 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009566.1 -1 validated p.G279S 1.000 65 0% 73 49.3% 97 43.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CLSTN1 22883 genome.wustl.edu 37 1 9809933 9809933 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009566.1 -1 validated p.E230K 0.998 384 0% 230 40.9% 55 47.2% possibly_damaging(0.501) deleterious(0.05) deleterious(0.513) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like UBE4B 10277 genome.wustl.edu 37 1 10190865 10190865 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105562.1 +1 reviewed p.L635 0.931 222 0% 133 39.8% 12 33.3% - - - HMMPfam_Ufd2P_core KIF1B 23095 genome.wustl.edu 37 1 10357069 10357069 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015074.3 +1 reviewed p.W613L 1.000 64 0% 34 32.4% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIF1B 23095 genome.wustl.edu 37 1 10405951 10405951 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015074.3 +1 reviewed p.S1200N 1.000 195 0% 67 44.8% 4 75% benign(0) deleterious(0.02) neutral(0.383) NULL CASZ1 54897 genome.wustl.edu 37 1 10713947 10713947 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079843.1 -1 validated p.D723N 1.000 18 5.6% 19 52.6% 11 27.2% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL C1orf127 148345 genome.wustl.edu 37 1 11008555 11008555 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000377008 -1 known p.T379N 0.000 12 0% 15 46.7% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL C1orf127 148345 genome.wustl.edu 37 1 11024203 11024203 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000377008 -1 known p.C17 0.000 91 0% 86 60.5% 0 - - - - NULL MASP2 10747 genome.wustl.edu 37 1 11097840 11097840 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006610.2 -1 reviewed p.P306 1.000 84 0% 65 32.3% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain MASP2 10747 genome.wustl.edu 37 1 11103401 11103401 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006610.2 -1 reviewed p.L246I 0.999 18 0% 13 53.8% 0 - benign(0.081) tolerated(0.45) neutral(0.018) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MASP2 10747 genome.wustl.edu 37 1 11106969 11106969 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006610.2 -1 reviewed p.L71 0.929 11 0% 19 31.6% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MTOR 2475 genome.wustl.edu 37 1 11187730 11187730 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004958.3 -1 reviewed p.A2056V 1.000 116 0% 91 50.5% 15 40% benign(0.373) deleterious(0.04) neutral(0.468) HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_ARM-type_fold MTOR 2475 genome.wustl.edu 37 1 11199365 11199365 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004958.3 -1 reviewed p.R1709H 1.000 92 2.2% 52 51.9% 26 42.3% possibly_damaging(0.863) tolerated(0.33) neutral(0.358) HMMPfam_FAT,superfamily_ARM-type_fold MTOR 2475 genome.wustl.edu 37 1 11227539 11227539 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004958.3 -1 reviewed p.A1430V 0.966 183 0% 113 23% 13 15.3% benign(0.001) tolerated(0.52) neutral(0.009) superfamily_ARM-type_fold,superfamily_SSF48452 MTOR 2475 genome.wustl.edu 37 1 11301713 11301713 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004958.3 -1 reviewed p.A480T 1.000 39 0% 21 23.8% 9 11.1% benign(0.009) tolerated(0.1) neutral(0.287) superfamily_ARM-type_fold MTOR 2475 genome.wustl.edu 37 1 11318549 11318549 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004958.3 -1 reviewed p.L88 1.000 157 0% 94 34% 5 40% - - - superfamily_ARM-type_fold PTCHD2 57540 genome.wustl.edu 37 1 11561154 11561154 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020780.1 +1 validated p.G35 0.000 28 0% 29 55.2% 0 - - - - NULL PTCHD2 57540 genome.wustl.edu 37 1 11590007 11590007 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020780.1 +1 validated p.I1031 0.555 13 0% 37 54.1% 1 0% - - - HMMPfam_Patched MTHFR 4524 genome.wustl.edu 37 1 11861383 11861383 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005957.4 -1 reviewed p.D104Y 1.000 29 0% 32 12.5% 12 0% probably_damaging(0.986) deleterious(0.04) deleterious(0.783) HMMPfam_MTHFR,superfamily_FAD-linked oxidoreductase CLCN6 1185 genome.wustl.edu 37 1 11882784 11882784 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001286.2 +1 reviewed p.A127T 0.920 165 0% 93 43% 6 50% possibly_damaging(0.736) tolerated(0.22) neutral(0.311) superfamily_Clc chloride channel KIAA2013 90231 genome.wustl.edu 37 1 11982671 11982671 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000376576 -1 known p.E637K 0.000 18 0% 35 37.1% 10 30% unknown(0) - - NULL PLOD1 5351 genome.wustl.edu 37 1 12030790 12030790 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000302.2 +1 reviewed p.G607S 0.344 45 0% 39 53.8% 333 45.3% unknown(0) tolerated(0.09) - HMMSmart_P4Hc VPS13D 55187 genome.wustl.edu 37 1 12320762 12320762 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015378.2 +1 reviewed p.R375W 1.000 104 0% 59 42.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS13D 55187 genome.wustl.edu 37 1 12326994 12326994 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015378.2 +1 reviewed p.R551W 0.992 235 0% 102 44.1% 4 50% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL VPS13D 55187 genome.wustl.edu 37 1 12415991 12415991 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015378.2 +1 reviewed p.L3239V 1.000 158 0% 80 37.5% 10 40% benign(0.213) tolerated(0.31) neutral(0.048) NULL PRAMEF11 440560 genome.wustl.edu 37 1 12888616 12888616 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342032.1 -1 model p.L46 0.032 59 0% 52 36.5% 0 - - - - NULL PRAMEF2 65122 genome.wustl.edu 37 1 12921097 12921097 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023014.1 +1 provisional p.E296D 0.277 123 0.8% 86 44.2% 0 - possibly_damaging(0.719) tolerated(0.18) neutral(0.317) superfamily_SSF52047 PRAMEF4 400735 genome.wustl.edu 37 1 12939696 12939696 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009611.2 -1 validated p.V369G 0.000 155 0% 89 34.8% 0 - possibly_damaging(0.517) deleterious(0) deleterious(0.619) superfamily_SSF52047 PRAMEF7 441871 genome.wustl.edu 37 1 12979895 12979895 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012277.1 +1 provisional p.S363T 0.116 47 0% 41 17.1% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) superfamily_RNI-like PRAMEF18 391003 genome.wustl.edu 37 1 13475213 13475213 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099850.1 -1 validated p.D306N 0.000 134 0% 76 36.8% 0 - benign(0) tolerated(0.08) neutral(0.300) superfamily_SSF52047 PDPN 10630 genome.wustl.edu 37 1 13940852 13940852 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006474.4 +1 reviewed p.G219D 0.091 436 0% 213 50.7% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Podoplanin PDPN 10630 genome.wustl.edu 37 1 13940894 13940894 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006474.4 +1 reviewed p.S233L 0.997 351 0% 176 39.8% 2 0% benign(0.202) deleterious(0) neutral(0.464) HMMPfam_Podoplanin PRDM2 7799 genome.wustl.edu 37 1 14106215 14106215 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012231.4 +1 reviewed p.A642V 0.068 90 0% 56 44.6% 11 72.7% unknown(0) tolerated(0.05) - NULL PRDM2 7799 genome.wustl.edu 37 1 14107528 14107528 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012231.4 +1 reviewed p.A1080T 0.992 77 0% 40 47.5% 18 72.2% unknown(0) tolerated(0.08) - NULL TMEM51 55092 genome.wustl.edu 37 1 15546172 15546172 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136216.1 +1 validated p.P232H 0.999 52 0% 38 36.8% 16 56.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FHAD1 114827 genome.wustl.edu 37 1 15687168 15687168 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000444385 +1 known p.A274V 0.049 103 0% 68 44.1% 0 - - - - NULL DNAJC16 23341 genome.wustl.edu 37 1 15863090 15863090 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015291.2 +1 provisional p.F119V 1.000 228 0% 116 37.9% 5 20% probably_damaging(1) tolerated(0.21) deleterious(0.544) superfamily_Chaperone J-domain LOC645317 645317 genome.wustl.edu 37 1 15931516 15931516 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_934920.4 +1 model p.R178Q 0.978 145 0% 74 20.3% 25 0% - - - HMMPfam_CHCH PLEKHM2 23207 genome.wustl.edu 37 1 16043304 16043304 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015164.2 +1 validated p.L90 1.000 27 0% 36 50% 52 36.5% - - - HMMPfam_RUN PLEKHM2 23207 genome.wustl.edu 37 1 16058909 16058909 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015164.2 +1 validated p.R897H 1.000 21 0% 14 42.9% 99 54.5% possibly_damaging(0.933) tolerated(0.62) neutral(0.383) NULL UQCRHL 440567 genome.wustl.edu 37 1 16133950 16133950 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001089591.1 -1 provisional p.E65D 1.000 160 0% 94 44.7% 3 0% - - - HMMPfam_UCR_hinge,superfamily_Non-heme 11 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) SPEN 23013 genome.wustl.edu 37 1 16256224 16256224 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015001.2 +1 reviewed p.I1163 1.000 52 0% 35 51.4% 9 44.4% - - - NULL SPEN 23013 genome.wustl.edu 37 1 16256788 16256788 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015001.2 +1 reviewed p.F1351 0.903 47 0% 31 48.4% 9 33.3% - - - NULL SPEN 23013 genome.wustl.edu 37 1 16257804 16257804 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015001.2 +1 reviewed p.A1690D 0.693 31 0% 29 62.1% 11 63.6% probably_damaging(0.988) deleterious(0.04) deleterious(0.786) NULL SPEN 23013 genome.wustl.edu 37 1 16257895 16257895 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015001.2 +1 reviewed p.E1720D 0.063 19 0% 25 32% 17 41.1% possibly_damaging(0.63) tolerated(0.06) deleterious(0.542) NULL SPEN 23013 genome.wustl.edu 37 1 16258976 16258976 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015001.2 +1 reviewed p.R2081* 0.867 123 0% 67 35.8% 9 11.1% - - - NULL SPEN 23013 genome.wustl.edu 37 1 16261368 16261368 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015001.2 +1 reviewed p.A2878V 0.997 52 0% 37 59.5% 43 39.5% unknown(0) deleterious(0.01) - NULL ZBTB17 7709 genome.wustl.edu 37 1 16270923 16270923 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003443.2 -1 validated p.E415K 1.000 29 0% 29 13.8% 33 6% benign(0.021) deleterious(0.01) neutral(0.407) superfamily_C2H2 and C2HC zinc fingers ZBTB17 7709 genome.wustl.edu 37 1 16274938 16274938 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003443.2 -1 validated p.R18Q 1.000 11 0% 20 65% 19 47.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_POZ domain,HMMPfam_BTB FBXO42 54455 genome.wustl.edu 37 1 16641780 16641780 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018994.1 -1 provisional p.R45M 1.000 130 0% 104 35.6% 20 35% possibly_damaging(0.66) deleterious(0) deleterious(0.677) HMMPfam_F-box,superfamily_SSF81383 NBPF1 55672 genome.wustl.edu 37 1 16913705 16913705 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017940.3 -1 predicted p.E206 0.009 1153 0.1% 601 13.3% 6 16.6% - - - HMMPfam_DUF1220 MST1P9 11223 genome.wustl.edu 37 1 17086978 17086978 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_002729.2 -1 validated NULL 1.000 56 0% 67 17.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) - CROCC 9696 genome.wustl.edu 37 1 17264209 17264209 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014675.3 +1 validated p.L423I 0.994 36 0% 27 33.3% 1 0% unknown(0) tolerated(0.1) - NULL CROCC 9696 genome.wustl.edu 37 1 17292364 17292364 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014675.3 +1 validated p.L1518M 1.000 11 0% 15 46.7% 9 55.5% probably_damaging(0.967) tolerated(0.06) deleterious(0.732) NULL PADI3 51702 genome.wustl.edu 37 1 17596790 17596790 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016233.2 +1 reviewed p.V239I 1.000 42 0% 27 51.9% 1 0% possibly_damaging(0.646) tolerated(0.18) neutral(0.283) HMMPfam_PAD_M,superfamily_PAD_central IGSF21 84966 genome.wustl.edu 37 1 18691814 18691814 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032880.3 +1 validated p.R213H 1.000 8 0.000 6 0.667 2 0% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) superfamily_SSF48726 PAX7 5081 genome.wustl.edu 37 1 18962813 18962813 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002584.2 +1 reviewed p.D178 0.706 139 0% 119 42.9% 0 - - - - NULL TAS1R2 80834 genome.wustl.edu 37 1 19181133 19181133 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152232.2 -1 validated p.P277 0.121 8 0.000 21 0.524 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 UBR4 23352 genome.wustl.edu 37 1 19430640 19430640 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020765.2 -1 validated p.R4280M 1.000 63 0% 41 17.1% 39 30.7% possibly_damaging(0.834) deleterious(0) deleterious(0.762) superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19478836 19478836 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020765.2 -1 validated p.S2323P 1.000 215 0% 114 44.7% 27 44.4% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19490786 19490786 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020765.2 -1 validated p.L1554R 1.000 49 0% 37 32.4% 11 27.2% benign(0.227) tolerated(0.15) neutral(0.264) superfamily_ARM repeat KIAA0090 23065 genome.wustl.edu 37 1 19571414 19571414 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015047.1 -1 predicted p.R69Q 1.000 175 1.1% 109 45% 21 52.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Quinoprotein alcohol dehydrogenase-like PQLC2 54896 genome.wustl.edu 37 1 19651999 19651999 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040125.1 +1 validated p.A102V 0.989 30 0% 34 32.4% 21 42.8% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL MUL1 79594 genome.wustl.edu 37 1 20834457 20834457 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024544.2 -1 validated p.V21I 1.000 4 0.000 10 0.500 15 66.6% benign(0.001) tolerated(0.58) neutral(0.005) NULL KIF17 57576 genome.wustl.edu 37 1 20992706 20992706 + Splice_Site SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020816.2 -1 validated e14+1 1.000 35 0% 41 31.7% 0 - - - - - KIF17 57576 genome.wustl.edu 37 1 21036292 21036292 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020816.2 -1 validated p.Y170 1.000 20 0% 12 41.7% 0 - - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KIF17 57576 genome.wustl.edu 37 1 21036294 21036294 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020816.2 -1 validated p.Y170H 1.000 20 0% 13 46.2% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 EIF4G3 8672 genome.wustl.edu 37 1 21188793 21188793 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003760.3 -1 validated p.E957D 1.000 489 0% 254 46.1% 20 45% possibly_damaging(0.882) tolerated(0.32) neutral(0.368) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat EIF4G3 8672 genome.wustl.edu 37 1 21268299 21268299 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003760.3 -1 validated p.P394S 0.974 156 0.6% 79 36.7% 24 45.8% benign(0.418) tolerated(0.6) neutral(0.140) NULL USP48 84196 genome.wustl.edu 37 1 22041894 22041894 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032236.5 -1 reviewed p.L651M 1.000 281 0% 80 48.7% 32 34.3% benign(0.179) deleterious(0.01) neutral(0.422) NULL USP48 84196 genome.wustl.edu 37 1 22079605 22079605 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032236.5 -1 reviewed p.E140D 0.993 161 0% 71 40.8% 18 55.5% possibly_damaging(0.95) tolerated(0.11) deleterious(0.665) HMMPfam_UCH,superfamily_Cysteine proteinases HSPG2 3339 genome.wustl.edu 37 1 22207901 22207901 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005529.5 -1 reviewed p.R563* 0.997 22 0% 37 24.3% 22 18.1% - - - NULL HSPG2 3339 genome.wustl.edu 37 1 22216971 22216971 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000374695 -1 known p.S121L 1.000 88 0% 75 24% 14 7.1% benign(0.156) tolerated(0.08) neutral(0.314) HMMPfam_SEA,HMMSmart_SM00200 CELA3A 10136 genome.wustl.edu 37 1 22329496 22329496 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005747.4 +1 reviewed p.A15D 0.998 73 0% 67 35.8% 0 - unknown(0) deleterious(0) - NULL ZBTB40 9923 genome.wustl.edu 37 1 22816927 22816927 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000374649 +1 known e2-1 0.000 34 0% 27 29.6% 1 100% - - - - ZBTB40 9923 genome.wustl.edu 37 1 22838340 22838340 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083621.1 +1 validated p.A725V 0.001 43 0% 37 16.2% 5 20% benign(0) tolerated(0.26) neutral(0.034) NULL C1QC 714 genome.wustl.edu 37 1 22973879 22973879 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114101.1 +1 reviewed p.Y114C 0.945 32 0% 23 43.5% 56 0% possibly_damaging(0.918) tolerated(0.07) deleterious(0.688) HMMSmart_C1Q EPHB2 2048 genome.wustl.edu 37 1 23234500 23234500 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004442.6 +1 reviewed p.A732T 1.000 84 0% 78 35.9% 18 44.4% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like EPHB2 2048 genome.wustl.edu 37 1 23234628 23234628 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004442.6 +1 reviewed p.D774 0.804 41 2.4% 53 11.3% 14 14.2% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KDM1A 23028 genome.wustl.edu 37 1 23409681 23409681 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015013.3 +1 reviewed p.R795* 1.000 104 0% 50 12% 167 7.7% - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain LUZP1 7798 genome.wustl.edu 37 1 23418002 23418002 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142546.1 -1 reviewed p.V918A 0.943 75 0% 50 32% 6 66.6% possibly_damaging(0.624) deleterious(0) deleterious(0.662) NULL HTR1D 3352 genome.wustl.edu 37 1 23519776 23519776 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000864.4 -1 validated p.C313R 1.000 60 0% 45 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 HTR1D 3352 genome.wustl.edu 37 1 23520605 23520605 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000864.4 -1 validated p.A36 0.249 115 0% 90 45.6% 0 - - - - superfamily_SSF81321 ZNF436 80818 genome.wustl.edu 37 1 23688917 23688917 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077195.1 -1 validated p.D320N 0.805 87 0% 62 21% 15 6.6% benign(0.07) tolerated(0.31) neutral(0.032) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ASAP3 55616 genome.wustl.edu 37 1 23758259 23758259 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017707.3 -1 reviewed p.P826S 0.002 40 0% 31 12.9% 16 6.2% benign(0.001) tolerated(0.38) neutral(0.018) NULL ASAP3 55616 genome.wustl.edu 37 1 23761083 23761083 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017707.3 -1 reviewed p.A593D 0.999 62 0% 60 21.7% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat RPL11 6135 genome.wustl.edu 37 1 24019129 24019129 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000975.2 +1 reviewed p.R13W 1.000 26 0% 23 39.1% 1156 44.6% benign(0.011) deleterious(0.02) neutral(0.384) HMMPfam_Ribosomal_L5,superfamily_Ribosomal protein L5 TCEB3 6924 genome.wustl.edu 37 1 24075566 24075566 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003198.2 +1 reviewed p.A70V 1.000 373 0.3% 183 42.1% 12 50% benign(0) tolerated(1) - HMMSmart_SM00509,HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70 LYPLA2 11313 genome.wustl.edu 37 1 24121035 24121035 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007260.2 +1 reviewed p.P197L 1.000 24 0% 25 48% 135 52.5% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Abhydrolase_2,superfamily_SSF53474 MYOM3 127294 genome.wustl.edu 37 1 24433626 24433626 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152372.3 -1 validated p.I113 0.000 14 0% 18 55.6% 0 - - - - NULL IL22RA1 58985 genome.wustl.edu 37 1 24448177 24448177 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021258.2 -1 reviewed p.H281 0.078 20 0% 13 53.8% 2 0% - - - NULL TMEM57 55219 genome.wustl.edu 37 1 25783205 25783205 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018202.4 +1 validated p.R179W 1.000 132 0% 56 26.8% 12 41.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Macoilin TMEM57 55219 genome.wustl.edu 37 1 25824864 25824864 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018202.4 +1 validated p.S634 1.000 84 0% 51 45.1% 56 50% - - - HMMPfam_Macoilin STMN1 3925 genome.wustl.edu 37 1 26230230 26230230 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145454.1 -1 reviewed p.E30* 1.000 234 0% 154 45.5% 252 26.9% - - - HMMPfam_Stathmin,superfamily_Stathmin SLC30A2 7780 genome.wustl.edu 37 1 26371500 26371500 + Missense_Mutation SNP C C T rs185398527 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004434.1 -1 validated p.G87R 1.000 51 0% 46 43.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Cation_efflux AIM1L 55057 genome.wustl.edu 37 1 26648760 26648760 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000475866 -1 known NULL 1.000 28 0% 27 40.7% 1 100% benign(0.231) tolerated(0.47) neutral(0.034) - ARID1A 8289 genome.wustl.edu 37 1 27097680 27097680 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006015.4 +1 reviewed p.S1090I 1.000 77 0% 61 49.2% 26 61.5% probably_damaging(0.956) tolerated(0.12) deleterious(0.660) HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like ARID1A 8289 genome.wustl.edu 37 1 27099014 27099014 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006015.4 +1 reviewed p.P1144S 1.000 80 0% 62 46.8% 39 61.5% probably_damaging(0.98) tolerated(0.4) neutral(0.440) NULL ARID1A 8289 genome.wustl.edu 37 1 27105553 27105553 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006015.4 +1 reviewed p.R1722* 1.000 119 0% 79 36.7% 36 30.5% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27106288 27106288 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006015.4 +1 reviewed p.L1967 1.000 48 0% 51 35.3% 90 50% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27106354 27106354 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006015.4 +1 reviewed p.R1989* 1.000 50 0% 66 28.8% 67 17.9% - - - NULL GPN2 54707 genome.wustl.edu 37 1 27210750 27210750 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018066.3 -1 validated p.A254D 1.000 45 0% 40 45% 28 60.7% possibly_damaging(0.908) tolerated(0.15) deleterious(0.603) HMMPfam_ATP_bind_1,superfamily_SSF52540 NUDC 10726 genome.wustl.edu 37 1 27267969 27267969 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006600.2 +1 provisional p.H61N 1.000 53 0% 51 41.2% 170 47% benign(0.177) tolerated(0.06) neutral(0.339) NULL LOC646567 646567 genome.wustl.edu 37 1 27312826 27312826 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_929503.3 -1 model p.E2D 1.000 34 0% 15 53.3% 0 - - - - HMMPfam_DUF2055 SLC9A1 6548 genome.wustl.edu 37 1 27429001 27429001 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003047.3 -1 validated p.G565 0.373 11 0% 20 45% 22 50% - - - NULL WDTC1 23038 genome.wustl.edu 37 1 27624477 27624477 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015023.3 +1 validated p.A368 1.000 39 0% 38 39.5% 47 46.8% - - - superfamily_WD40 repeat-like,HMMSmart_SM00028,superfamily_TPR-like MAP3K6 9064 genome.wustl.edu 37 1 27687421 27687421 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004672.3 -1 reviewed p.E637D 1.000 7 0.000 7 0.571 16 43.7% benign(0.022) tolerated(1) neutral(0.001) NULL WASF2 10163 genome.wustl.edu 37 1 27742577 27742577 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006990.2 -1 reviewed p.L147F 1.000 281 0% 175 36.6% 24 50% unknown(0) deleterious(0) - NULL AHDC1 27245 genome.wustl.edu 37 1 27876988 27876988 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029882.2 -1 validated p.R547C 1.000 11 0% 16 25% 23 34.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AT_hook,HMMSmart_AT_hook FGR 2268 genome.wustl.edu 37 1 27949614 27949614 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042729.1 -1 reviewed p.A90T 1.000 102 0% 89 49.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 IFI6 2537 genome.wustl.edu 37 1 27992977 27992977 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022873.2 -1 reviewed p.G111D 0.007 30 0% 36 44.4% 42 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ifi-6-16 IFI6 2537 genome.wustl.edu 37 1 27995032 27995032 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022873.2 -1 reviewed p.S37P 0.003 10 0% 12 66.7% 33 30.3% possibly_damaging(0.488) tolerated(0.14) neutral(0.412) NULL C1orf38 9473 genome.wustl.edu 37 1 28209047 28209047 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105556.1 +1 validated p.E404D 0.732 25 0% 15 40% 10 40% probably_damaging(0.974) tolerated(0.4) neutral(0.432) NULL RPA2 6118 genome.wustl.edu 37 1 28220834 28220834 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002946.3 -1 provisional p.M200I 0.402 263 0% 165 45.5% 48 31.2% benign(0.005) tolerated(0.48) neutral(0.011) HMMPfam_RPA_C EYA3 2140 genome.wustl.edu 37 1 28330930 28330930 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001990.2 -1 reviewed p.R304W 1.000 180 0.6% 67 64.2% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase ATPIF1 93974 genome.wustl.edu 37 1 28562920 28562920 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016311.3 +1 reviewed p.A46S 1.000 20 0% 17 29.4% 597 43.7% possibly_damaging(0.791) deleterious(0) deleterious(0.741) HMMPfam_IATP PHACTR4 65979 genome.wustl.edu 37 1 28802770 28802770 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023923.3 +1 reviewed p.R535* 1.000 248 0% 112 47.3% 10 30% - - - NULL PHACTR4 65979 genome.wustl.edu 37 1 28817495 28817495 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023923.3 +1 reviewed p.R627* 1.000 166 0% 101 38.6% 2 0% - - - NULL RCC1 1104 genome.wustl.edu 37 1 28862534 28862534 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001048194.1 +1 validated p.Q302H 1.000 34 0% 36 58.3% 101 45.5% possibly_damaging(0.577) deleterious(0) deleterious(0.643) HMMPfam_RCC1,superfamily_RCC1/BLIP-II TRNAU1AP 54952 genome.wustl.edu 37 1 28897780 28897780 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017846.4 +1 validated p.G208D 1.000 153 0% 120 45% 35 51.4% possibly_damaging(0.88) tolerated(0.13) deleterious(0.596) NULL PTPRU 10076 genome.wustl.edu 37 1 29651769 29651769 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005704.3 +1 reviewed p.H1403 1.000 30 0% 35 48.6% 39 38.4% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PUM1 9698 genome.wustl.edu 37 1 31439034 31439034 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001020658.1 -1 reviewed p.Q627H 1.000 100 0% 71 40.8% 61 42.6% probably_damaging(0.996) tolerated(0.13) deleterious(0.714) NULL PUM1 9698 genome.wustl.edu 37 1 31465506 31465506 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001020658.1 -1 reviewed p.R297C 1.000 49 0% 39 41% 27 40.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNRNP40 9410 genome.wustl.edu 37 1 31754247 31754247 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004814.2 -1 reviewed p.S210A 1.000 231 0% 118 46.6% 46 45.6% probably_damaging(0.979) tolerated(0.24) neutral(0.459) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 FABP3 2170 genome.wustl.edu 37 1 31845852 31845852 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004102.3 -1 reviewed p.A4T 1.000 35 0% 25 28% 7 57.1% benign(0.001) tolerated(0.27) neutral(0.034) superfamily_Lipocalins BAI2 576 genome.wustl.edu 37 1 32196963 32196963 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001703.2 -1 reviewed p.R1273H 1.000 8 0.000 7 0.571 32 46.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPOCD1 90853 genome.wustl.edu 37 1 32263873 32263873 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144569.4 -1 provisional p.R694W 0.999 13 0% 28 28.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510 PTP4A2 8073 genome.wustl.edu 37 1 32384657 32384657 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080391.2 -1 reviewed p.P4S 1.000 238 0% 140 20% 78 29.4% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Y_phosphatase KHDRBS1 10657 genome.wustl.edu 37 1 32508161 32508161 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006559.1 +1 provisional p.L423P 1.000 98 0% 57 43.9% 207 50.2% possibly_damaging(0.797) deleterious(0.02) deleterious(0.682) NULL TMEM39B 55116 genome.wustl.edu 37 1 32542422 32542422 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018056.2 +1 validated p.R137H 1.000 54 0% 61 42.6% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tmp39 TMEM39B 55116 genome.wustl.edu 37 1 32542858 32542858 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018056.2 +1 validated p.R177* 1.000 90 0% 84 44% 15 73.3% - - - HMMPfam_Tmp39 TMEM39B 55116 genome.wustl.edu 37 1 32568068 32568068 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018056.2 +1 validated p.L425I 1.000 63 0% 68 10.3% 32 6.2% probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_Tmp39 IQCC 55721 genome.wustl.edu 37 1 32672608 32672608 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018134.2 +1 validated p.T149A 0.003 25 0% 25 36% 6 16.6% benign(0.005) tolerated(1) - NULL BSDC1 55108 genome.wustl.edu 37 1 32832108 32832108 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441541 -1 known p.S161R 0.892 4 0.000 9 0.444 40 50% unknown(0) tolerated(0.07) - NULL BSDC1 55108 genome.wustl.edu 37 1 32841954 32841954 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143888.1 -1 validated p.E372 1.000 27 0% 43 14% 33 9% - - - NULL YARS 8565 genome.wustl.edu 37 1 33252565 33252565 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003680.3 -1 reviewed p.H266Y 1.000 188 0% 89 31.5% 41 0% benign(0.025) tolerated(0.81) neutral(0.002) HMMPfam_tRNA-synt_1b,superfamily_Nucleotidylyl transferase ADC 113451 genome.wustl.edu 37 1 33557722 33557722 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052998.2 +1 validated p.Q117 0.995 39 0% 22 27.3% 6 50% - - - HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel ZNF362 149076 genome.wustl.edu 37 1 33760790 33760790 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152493.2 +1 validated p.P344S 1.000 27 0% 35 42.9% 37 45.9% benign(0.001) tolerated(0.77) neutral(0.001) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN20 7579 genome.wustl.edu 37 1 33954791 33954791 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145238.3 +1 validated p.Q227H 1.000 189 0% 123 50.4% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL ZSCAN20 7579 genome.wustl.edu 37 1 33956766 33956766 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145238.3 +1 validated p.R303M 0.586 70 0% 36 33.3% 2 0% benign(0.404) deleterious(0.01) deleterious(0.536) NULL ZSCAN20 7579 genome.wustl.edu 37 1 33958865 33958865 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145238.3 +1 validated p.R508H 1.000 14 0% 10 40% 1 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00717 CSMD2 114784 genome.wustl.edu 37 1 34049249 34049249 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052896.3 -1 validated p.I2413M 0.997 87 0% 44 31.8% 0 - probably_damaging(0.974) deleterious(0.03) deleterious(0.780) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD2 114784 genome.wustl.edu 37 1 34071031 34071031 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052896.3 -1 validated p.A2130V 1.000 59 0% 36 36.1% 0 - benign(0.146) tolerated(0.32) neutral(0.037) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34189816 34189816 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052896.3 -1 validated p.I954 0.618 48 0% 38 28.9% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD2 114784 genome.wustl.edu 37 1 34208962 34208962 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052896.3 -1 validated p.T658A 1.000 18 0% 25 48% 0 - benign(0.076) tolerated(0.54) neutral(0.013) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD2 114784 genome.wustl.edu 37 1 34291302 34291302 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052896.3 -1 validated p.S329 0.898 33 0% 23 34.8% 0 - - - - NULL CSMD2 114784 genome.wustl.edu 37 1 34554660 34554660 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052896.3 -1 validated p.F68L 1.000 57 0% 31 45.2% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain C1orf94 84970 genome.wustl.edu 37 1 34643643 34643643 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134734.1 +1 validated p.S85P 0.005 49 0% 36 41.7% 0 - probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL GJB5 2709 genome.wustl.edu 37 1 35223351 35223351 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005268.2 +1 provisional p.S140 0.000 32 0% 26 50% 1 100% - - - NULL GJB4 127534 genome.wustl.edu 37 1 35227540 35227540 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153212.2 +1 reviewed p.C229R 0.000 7 0.000 15 0.467 1 0% benign(0) tolerated(0.41) neutral(0.015) NULL GJB3 2707 genome.wustl.edu 37 1 35250487 35250487 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005752.1 +1 reviewed p.R42C 0.977 60 0% 69 13% 3 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Connexin,HMMSmart_SM00037 DLGAP3 58512 genome.wustl.edu 37 1 35365778 35365778 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080418.1 -1 provisional p.G402W 1.000 30 0% 39 35.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZMYM6 9204 genome.wustl.edu 37 1 35452887 35452887 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007167.3 -1 validated p.E1266* 1.000 276 0% 161 41.6% 12 58.3% - - - NULL ZMYM6 9204 genome.wustl.edu 37 1 35477599 35477599 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007167.3 -1 validated p.Q318 0.992 192 0% 98 45.9% 5 80% - - - HMMPfam_zf-FCS ZMYM1 79830 genome.wustl.edu 37 1 35579446 35579446 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024772.3 +1 validated p.A672D 0.177 135 0% 79 39.2% 4 25% possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL ZMYM1 79830 genome.wustl.edu 37 1 35580497 35580497 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024772.3 +1 validated p.D1022 0.995 170 0% 115 40.9% 1 0% - - - NULL ZMYM4 9202 genome.wustl.edu 37 1 35859336 35859336 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000457946 +1 known p.D629N 1.000 218 0% 115 34.8% 30 56.6% - - - NULL ZMYM4 9202 genome.wustl.edu 37 1 35885275 35885275 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005095.2 +1 validated p.D1548 1.000 99 0% 59 30.5% 34 50% - - - NULL KIAA0319L 79932 genome.wustl.edu 37 1 35913814 35913814 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024874.4 -1 reviewed p.D825N 1.000 124 0% 63 47.6% 23 34.7% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL KIAA0319L 79932 genome.wustl.edu 37 1 35926033 35926033 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024874.4 -1 reviewed p.T434A 1.000 545 0% 237 40.5% 17 47% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00089,superfamily_PKD domain NCDN 23154 genome.wustl.edu 37 1 36030896 36030896 + Missense_Mutation SNP G G A rs147694879 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014839.1 +1 reviewed p.V608M 1.000 23 0% 21 28.6% 28 46.4% possibly_damaging(0.906) tolerated(0.08) deleterious(0.659) HMMPfam_Neurochondrin EIF2C4 192670 genome.wustl.edu 37 1 36301436 36301436 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017629.2 +1 reviewed p.A522 0.979 114 0% 70 11.4% 7 14.2% - - - HMMPfam_Piwi,superfamily_Ribonuclease H-like EIF2C3 192669 genome.wustl.edu 37 1 36432660 36432660 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024852.2 +1 reviewed p.P99L 1.000 171 0% 90 35.6% 4 50% possibly_damaging(0.764) deleterious(0.04) deleterious(0.632) NULL TRAPPC3 27095 genome.wustl.edu 37 1 36603481 36603481 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014408.3 -1 provisional p.V113 1.000 123 0% 83 39.8% 58 48.2% - - - HMMPfam_TRAPP MAP7D1 55700 genome.wustl.edu 37 1 36639028 36639028 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018067.3 +1 provisional p.R230C 1.000 20 0% 24 41.7% 56 53.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL THRAP3 9967 genome.wustl.edu 37 1 36748268 36748268 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005119.3 +1 validated p.R35Q 1.000 93 1.1% 72 51.4% 33 27.2% unknown(0) deleterious(0) - NULL THRAP3 9967 genome.wustl.edu 37 1 36755145 36755145 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005119.3 +1 validated p.E509K 0.894 107 0% 51 49% 52 36.5% possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) NULL LSM10 84967 genome.wustl.edu 37 1 36859492 36859492 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032881.1 -1 provisional p.R80H 1.000 33 3% 39 17.9% 89 3.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LSM,superfamily_Sm_like_riboprot GRIK3 2899 genome.wustl.edu 37 1 37267613 37267613 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000831.3 -1 reviewed p.R867C 1.000 17 0% 22 63.6% 0 - possibly_damaging(0.836) tolerated(0.06) deleterious(0.642) superfamily_SSF55620 GRIK3 2899 genome.wustl.edu 37 1 37271815 37271815 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000831.3 -1 reviewed p.A735V 1.000 37 0% 24 37.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 GNL2 29889 genome.wustl.edu 37 1 38032536 38032536 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013285.2 -1 validated p.N706H 1.000 686 0% 335 38.2% 88 45.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GNL2 29889 genome.wustl.edu 37 1 38042154 38042154 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013285.2 -1 validated p.H305Y 1.000 220 0% 138 45.7% 47 55.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases EPHA10 284656 genome.wustl.edu 37 1 38186159 38186159 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099439.1 -1 validated p.K759T 1.000 9 0.000 6 0.667 0 - probably_damaging(0.977) tolerated(0.06) deleterious(0.742) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MANEAL 149175 genome.wustl.edu 37 1 38261468 38261468 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113482.1 +1 validated p.D204Y 1.000 44 0% 37 43.2% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MTF1 4520 genome.wustl.edu 37 1 38281154 38281154 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005955.2 -1 reviewed p.R639Q 1.000 18 0% 19 63.2% 7 57.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL INPP5B 3633 genome.wustl.edu 37 1 38343888 38343888 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005540.2 -1 reviewed p.K550T 1.000 46 0% 40 42.5% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like SF3A3 10946 genome.wustl.edu 37 1 38444393 38444393 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006802.2 -1 reviewed p.R312* 0.995 115 0% 74 41.9% 34 14.7% - - - NULL UTP11L 51118 genome.wustl.edu 37 1 38484211 38484211 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016037.3 +1 validated p.V102I 0.046 270 0% 116 36.2% 25 40% benign(0) tolerated(0.73) neutral(0.002) HMMPfam_Utp11 RRAGC 64121 genome.wustl.edu 37 1 39322687 39322687 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022157.2 -1 provisional p.D102G 1.000 184 0% 91 41.8% 9 33.3% possibly_damaging(0.832) deleterious(0.01) deleterious(0.723) superfamily_SSF52540 AKIRIN1 79647 genome.wustl.edu 37 1 39469074 39469074 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000372976 +1 known p.G2E 1.000 204 0% 91 31.9% 59 38.9% unknown(0) - - NULL MACF1 23499 genome.wustl.edu 37 1 39765930 39765930 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012090.3 +1 reviewed p.V849I 1.000 266 0% 149 42.3% 12 33.3% probably_damaging(0.964) deleterious(0.04) deleterious(0.755) superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39776034 39776034 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012090.3 +1 reviewed p.R1017C 0.980 94 0% 65 44.6% 8 50% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39845096 39845096 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033044.2 +1 reviewed p.A2940P 1.000 27 0% 24 37.5% 4 75% probably_damaging(0.978) tolerated(0.26) neutral(0.455) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MACF1 23499 genome.wustl.edu 37 1 39907982 39907982 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033044.2 +1 reviewed p.A4756V 1.000 58 0% 24 54.2% 26 53.8% benign(0.001) tolerated(1) - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin BMP8B 656 genome.wustl.edu 37 1 40228845 40228845 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001720.3 -1 reviewed p.S326 0.099 42 0% 25 44% 3 33.3% - - - HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 BMP8B 656 genome.wustl.edu 37 1 40230344 40230344 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001720.3 -1 reviewed p.P273 0.049 51 0% 52 28.8% 5 0% - - - NULL TRIT1 54802 genome.wustl.edu 37 1 40318514 40318514 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017646.4 -1 validated p.R150Q 1.000 280 0% 150 42.7% 3 0% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_IPPT,superfamily_P-loop containing nucleoside triphosphate hydrolases CAP1 10487 genome.wustl.edu 37 1 40535528 40535528 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105530.1 +1 reviewed p.E325D 1.000 99 0% 68 44.1% 124 40.3% benign(0.004) tolerated(0.65) neutral(0.003) HMMPfam_CAP_C,superfamily_C-terminal domain of adenylylcyclase associated protein ZNF643 65243 genome.wustl.edu 37 1 40928928 40928928 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000411995 +1 known p.V397A 0.962 212 0% 99 49.5% 6 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF642 339559 genome.wustl.edu 37 1 40961717 40961717 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198494.2 +1 validated p.R523* 0.055 60 0% 36 47.2% 8 50% - - - NULL KCNQ4 9132 genome.wustl.edu 37 1 41288069 41288069 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000509682 +1 known p.L295I 0.994 7 0.000 8 0.625 1 0% - - - NULL CTPS 1503 genome.wustl.edu 37 1 41457481 41457481 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001905.2 +1 validated p.E228D 1.000 166 0% 63 42.9% 22 54.5% benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_CTP_synth_N,superfamily_SSF52540 SLFNL1 200172 genome.wustl.edu 37 1 41483534 41483534 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144990.3 -1 validated p.R244W 1.000 4 0.000 9 0.667 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HIVEP3 59269 genome.wustl.edu 37 1 42047314 42047314 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024503.3 -1 validated p.S1052N 0.998 60 0% 43 27.9% 0 - benign(0) tolerated(0.58) neutral(0.005) NULL HIVEP3 59269 genome.wustl.edu 37 1 42048634 42048634 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024503.3 -1 validated p.D612G 0.973 115 0% 55 45.5% 0 - possibly_damaging(0.646) tolerated(0.45) neutral(0.239) NULL HIVEP3 59269 genome.wustl.edu 37 1 42049180 42049180 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024503.3 -1 validated p.A430V 0.906 50 0% 42 47.6% 1 0% benign(0.061) tolerated(0.12) neutral(0.265) NULL HIVEP3 59269 genome.wustl.edu 37 1 42049464 42049464 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024503.3 -1 validated p.L335 0.946 75 0% 71 36.6% 0 - - - - NULL HIVEP3 59269 genome.wustl.edu 37 1 42049757 42049757 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024503.3 -1 validated p.H238Y 1.000 27 0% 19 36.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FOXJ3 22887 genome.wustl.edu 37 1 42657164 42657164 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014947.3 -1 validated p.P387 0.003 192 0.5% 207 43% 53 43.3% - - - NULL PPCS 79717 genome.wustl.edu 37 1 42925334 42925334 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024664.2 +1 validated p.A225S 1.000 171 0% 111 11.7% 34 23.5% probably_damaging(1) tolerated(0.28) deleterious(0.531) HMMPfam_DFP,superfamily_DNA/pantothenate-metab_flavo_C CCDC30 728621 genome.wustl.edu 37 1 43022058 43022058 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080850.2 +1 validated p.S219 1.000 104 0% 40 47.5% 0 - - - - NULL PPIH 10465 genome.wustl.edu 37 1 43125145 43125145 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000436387 +1 known p.G6 0.027 147 0% 110 41.8% 0 - - - - superfamily_Cyclophilin-like YBX1 4904 genome.wustl.edu 37 1 43162425 43162425 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004559.3 +1 validated p.R156H 1.000 89 0% 66 50% 1438 40.1% benign(0.015) deleterious(0.03) neutral(0.365) NULL EBNA1BP2 10969 genome.wustl.edu 37 1 43630471 43630471 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006824.2 -1 validated p.S238I 0.155 122 0% 54 37% 98 39.7% possibly_damaging(0.882) tolerated(0.18) neutral(0.400) HMMPfam_Ebp2 WDR65 149465 genome.wustl.edu 37 1 43638459 43638459 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152498.3 +1 validated p.F12C 1.000 103 0% 75 37.3% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL C1orf210 149466 genome.wustl.edu 37 1 43748672 43748672 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182517.2 -1 validated p.V42 0.578 21 0% 27 48.1% 15 40% - - - NULL TIE1 7075 genome.wustl.edu 37 1 43775103 43775103 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005424.2 +1 provisional p.F411 0.783 64 0% 73 42.5% 4 0% - - - HMMPfam_ig,superfamily_SSF48726 TIE1 7075 genome.wustl.edu 37 1 43784979 43784979 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005424.2 +1 provisional p.G999D 1.000 72 0% 68 10.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like MPL 4352 genome.wustl.edu 37 1 43812149 43812149 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005373.2 +1 reviewed p.E338D 0.028 55 0% 41 31.7% 0 - benign(0.01) tolerated(0.56) neutral(0.007) superfamily_Fibronectin type III MED8 112950 genome.wustl.edu 37 1 43851840 43851840 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052877.3 -1 reviewed p.A184V 1.000 60 0% 29 13.8% 50 16% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arc32 MED8 112950 genome.wustl.edu 37 1 43852669 43852669 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052877.3 -1 reviewed p.R91W 1.000 66 1.5% 53 37.7% 42 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Arc32 SZT2 23334 genome.wustl.edu 37 1 43893373 43893373 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015284.2 +1 predicted p.Q358 0.956 14 0% 20 25% 3 33.3% - - - NULL SZT2 23334 genome.wustl.edu 37 1 43905561 43905561 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015284.2 +1 predicted p.G1452V 0.972 59 0% 55 18.2% 6 50% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) NULL SZT2 23334 genome.wustl.edu 37 1 43907744 43907744 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015284.2 +1 predicted p.R1707W 0.947 20 0% 29 48.3% 10 10% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SZT2 23334 genome.wustl.edu 37 1 43908140 43908140 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015284.2 +1 predicted p.P1769T 1.000 22 0% 25 24% 7 57.1% possibly_damaging(0.951) tolerated(0.22) neutral(0.436) NULL SZT2 23334 genome.wustl.edu 37 1 43908273 43908273 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015284.2 +1 predicted p.P1813L 1.000 21 0% 26 46.2% 8 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SZT2 23334 genome.wustl.edu 37 1 43908278 43908278 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015284.2 +1 predicted p.R1815* 1.000 20 0% 25 48% 7 42.8% - - - NULL PTPRF 5792 genome.wustl.edu 37 1 44083189 44083189 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000429895 +1 known p.R1028* 1.000 36 0% 49 42.9% 218 44.4% probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II KDM4A 9682 genome.wustl.edu 37 1 44118929 44118929 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014663.2 +1 reviewed p.S28N 1.000 103 0% 48 39.6% 20 50% benign(0.009) tolerated(0.91) neutral(0.001) HMMPfam_JmjN,HMMSmart_SM00545 IPO13 9670 genome.wustl.edu 37 1 44422103 44422103 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014652.3 +1 reviewed p.I311 0.750 37 0% 38 52.6% 40 50% - - - superfamily_ARM-type_fold SLC6A9 6536 genome.wustl.edu 37 1 44468264 44468264 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201649.2 -1 validated p.R333C 1.000 31 0% 35 17.1% 14 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF ERI3 79033 genome.wustl.edu 37 1 44774054 44774054 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024066.1 -1 validated p.A229V 1.000 129 0% 104 47.1% 107 44.8% benign(0.262) tolerated(0.39) neutral(0.043) HMMSmart_SM00479,superfamily_Ribonuclease H-like,HMMPfam_Exonuc_X-T RNF220 55182 genome.wustl.edu 37 1 44877875 44877875 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018150.2 +1 validated p.R36C 1.000 43 0% 43 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RNF220 55182 genome.wustl.edu 37 1 45079862 45079862 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018150.2 +1 validated p.F217 1.000 30 0% 24 37.5% 0 - - - - NULL C1orf228 339541 genome.wustl.edu 37 1 45191048 45191048 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145636.1 +1 validated p.F432 0.001 23 0% 29 41.4% 2 0% - - - NULL C1orf228 339541 genome.wustl.edu 37 1 45191054 45191054 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145636.1 +1 validated p.E434D 0.000 24 0% 29 44.8% 1 100% benign(0.133) tolerated(0.23) neutral(0.053) NULL KIF2C 11004 genome.wustl.edu 37 1 45226368 45226368 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000423289 +1 known p.L37R 0.920 96 0% 64 35.9% 34 50% - - - HMMPfam_Kinesin,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF2C 11004 genome.wustl.edu 37 1 45227595 45227595 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000423289 +1 known p.R42* 1.000 152 0% 116 41.4% 37 48.6% benign(0) tolerated(1) - HMMPfam_Kinesin,superfamily_P-loop containing nucleoside triphosphate hydrolases RPS8 6202 genome.wustl.edu 37 1 45242367 45242367 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012.1 +1 reviewed p.H44 1.000 50 0% 62 45.2% 2513 46.9% - - - HMMPfam_Ribosomal_S8e BEST4 266675 genome.wustl.edu 37 1 45250804 45250804 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153274.2 -1 reviewed p.F296L 1.000 26 0% 29 51.7% 0 - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_Bestrophin PTCH2 8643 genome.wustl.edu 37 1 45288333 45288333 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003738.4 -1 reviewed p.Q1122H 0.893 28 0% 16 31.2% 2 100% probably_damaging(0.983) deleterious(0.05) deleterious(0.774) NULL PTCH2 8643 genome.wustl.edu 37 1 45293620 45293620 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003738.4 -1 reviewed p.E651D 0.000 21 0% 24 45.8% 5 60% benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Patched HECTD3 79654 genome.wustl.edu 37 1 45475780 45475780 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024602.5 -1 validated p.T213A 1.000 75 0% 69 30.4% 32 34.3% benign(0.156) deleterious(0.03) neutral(0.379) superfamily_Galactose-binding domain-like ZSWIM5 57643 genome.wustl.edu 37 1 45504675 45504675 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020883.1 -1 validated p.I609 1.000 40 0% 35 45.7% 4 50% - - - NULL TMEM69 51249 genome.wustl.edu 37 1 46158902 46158902 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016486.3 +1 validated p.G23 0.079 95 0% 64 43.8% 37 56.7% - - - NULL TMEM69 51249 genome.wustl.edu 37 1 46159019 46159019 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016486.3 +1 validated p.Q62H 0.000 109 0% 88 44.3% 30 46.6% benign(0.003) tolerated(0.23) neutral(0.042) NULL TMEM69 51249 genome.wustl.edu 37 1 46159392 46159392 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016486.3 +1 validated p.V187F 0.969 223 0.4% 119 37.8% 45 53.3% probably_damaging(0.991) tolerated(0.23) deleterious(0.485) NULL MAST2 23139 genome.wustl.edu 37 1 46425063 46425063 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015112.2 +1 validated p.R169Q 1.000 82 0% 38 13.2% 29 10.3% probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL MAST2 23139 genome.wustl.edu 37 1 46496691 46496691 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015112.2 +1 validated p.R907 1.000 13 0% 11 45.5% 24 37.5% - - - NULL POMGNT1 55624 genome.wustl.edu 37 1 46659256 46659256 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017739.3 -1 reviewed p.F336V 1.000 53 0% 45 15.6% 45 6.6% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) superfamily_Nucleotide-diphospho-sugar transferases NSUN4 387338 genome.wustl.edu 37 1 46810801 46810801 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199044.2 +1 validated p.R141H 1.000 26 0% 16 43.8% 18 61.1% probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL MOB3C 148932 genome.wustl.edu 37 1 47078822 47078822 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145279.4 -1 reviewed p.D110N 1.000 13 0% 12 33.3% 11 45.4% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Mob1_phocein,superfamily_Mob1/phocein ATPAF1-AS1 374973 genome.wustl.edu 37 1 47138842 47138842 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145474.1 +1 predicted p.S112N 0.000 34 0% 28 57.1% 1 100% - - - NULL CYP4X1 260293 genome.wustl.edu 37 1 47514242 47514242 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178033.1 +1 reviewed p.T405A 0.000 200 0.5% 97 10.3% 28 10.7% benign(0.383) tolerated(0.35) neutral(0.143) HMMPfam_p450,superfamily_Cytochrome P450 CYP4X1 260293 genome.wustl.edu 37 1 47515113 47515113 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178033.1 +1 reviewed p.F431S 0.998 415 0% 172 37.8% 40 37.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_p450,superfamily_Cytochrome P450 CYP4A22 284541 genome.wustl.edu 37 1 47607809 47607809 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010969.2 +1 reviewed p.T138A 0.867 54 0% 25 24% 0 - unknown(0) deleterious(0.02) - HMMPfam_p450,superfamily_Cytochrome P450 STIL 6491 genome.wustl.edu 37 1 47748042 47748042 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001048166.1 -1 reviewed p.P408H 1.000 199 0% 98 42.9% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL STIL 6491 genome.wustl.edu 37 1 47767944 47767944 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001048166.1 -1 reviewed p.S76L 0.001 372 0% 145 44.1% 2 0% benign(0) tolerated(0.91) - NULL SLC5A9 200010 genome.wustl.edu 37 1 48688526 48688526 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135181.1 +1 validated p.V40M 1.000 40 0% 33 45.5% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL AGBL4 84871 genome.wustl.edu 37 1 49100160 49100160 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000371838 -1 known p.S319N 1.000 90 0% 42 38.1% 0 - benign(0.116) deleterious(0.04) neutral(0.358) NULL AGBL4 84871 genome.wustl.edu 37 1 49511437 49511437 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032785.3 -1 validated p.R138H 1.000 114 0% 33 45.5% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ELAVL4 1996 genome.wustl.edu 37 1 50666494 50666494 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021952.3 +1 validated p.P263S 1.000 73 0% 39 15.4% 0 - benign(0) tolerated(0.06) neutral(0.323) superfamily_RNA-binding domain RBD ELAVL4 1996 genome.wustl.edu 37 1 50666546 50666546 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144775.1 +1 validated p.G283E 1.000 71 0% 50 44% 0 - benign(0.008) tolerated(0.27) neutral(0.034) superfamily_SSF54928 CDKN2C 1031 genome.wustl.edu 37 1 51439617 51439617 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001262.2 +1 reviewed p.A61V 1.000 47 0% 42 50% 34 38.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CDKN2C 1031 genome.wustl.edu 37 1 51439873 51439873 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001262.2 +1 reviewed p.L146 1.000 21 0% 24 66.7% 29 65.5% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat EPS15 2060 genome.wustl.edu 37 1 51913791 51913791 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001981.2 -1 reviewed p.Y193C 1.000 111 0% 39 33.3% 27 48.1% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00027,superfamily_EF-hand NRD1 4898 genome.wustl.edu 37 1 52260189 52260189 + Silent SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000440943 -1 known p.S325T 0.982 45 0% 29 34.5% 111 51.3% - - - HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase NRD1 4898 genome.wustl.edu 37 1 52344274 52344274 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002525.2 -1 validated p.V5A 0.997 15 0% 15 46.7% 22 54.5% benign(0.035) deleterious(0) neutral(0.447) NULL ZFYVE9 9372 genome.wustl.edu 37 1 52704338 52704338 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004799.2 +1 reviewed p.E417K 0.998 67 0% 27 48.1% 2 100% benign(0) tolerated(0.27) neutral(0.034) NULL ZFYVE9 9372 genome.wustl.edu 37 1 52744230 52744230 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004799.2 +1 reviewed p.D938G 1.000 349 0% 180 45% 10 50% possibly_damaging(0.723) deleterious(0.03) deleterious(0.627) NULL CC2D1B 200014 genome.wustl.edu 37 1 52820318 52820318 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032449.1 -1 validated p.R804W 1.000 128 0% 102 41.2% 18 55.5% probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CC2D1B 200014 genome.wustl.edu 37 1 52823307 52823307 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032449.1 -1 validated p.A554V 1.000 12 0% 17 47.1% 31 29% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00685 CC2D1B 200014 genome.wustl.edu 37 1 52823522 52823522 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032449.1 -1 validated p.T510A 0.014 22 0% 30 40% 11 27.2% benign(0) tolerated(0.84) neutral(0.001) NULL ORC1 4998 genome.wustl.edu 37 1 52850920 52850920 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004153.2 -1 reviewed p.A499V 0.998 83 0% 31 35.5% 7 71.4% benign(0.032) tolerated(0.15) neutral(0.242) superfamily_SSF52540 ORC1 4998 genome.wustl.edu 37 1 52851566 52851566 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004153.2 -1 reviewed p.A480D 0.998 23 0% 20 45% 5 100% benign(0.344) tolerated(0.2) neutral(0.158) NULL ORC1 4998 genome.wustl.edu 37 1 52859236 52859236 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004153.2 -1 reviewed p.R321* 0.902 310 0.3% 208 45.2% 6 0% - - - NULL ORC1 4998 genome.wustl.edu 37 1 52859254 52859254 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004153.2 -1 reviewed p.R315C 0.000 282 0% 201 46.3% 5 100% benign(0.008) deleterious(0.04) neutral(0.349) NULL ZCCHC11 23318 genome.wustl.edu 37 1 52941110 52941110 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009881.1 -1 validated p.F707 1.000 134 0% 72 41.7% 15 40% - - - superfamily_PAP/OAS1 substrate-binding domain FAM159A 348378 genome.wustl.edu 37 1 53122565 53122565 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042693.1 +1 validated p.P142 0.000 26 0% 29 48.3% 0 - - - - NULL SELRC1 65260 genome.wustl.edu 37 1 53163920 53163920 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023077.2 -1 validated p.H27Y 1.000 28 0% 21 71.4% 5 40% benign(0.06) deleterious(0.04) neutral(0.353) NULL ZYG11B 79699 genome.wustl.edu 37 1 53237431 53237431 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024646.2 +1 validated p.G312 0.999 37 0% 18 38.9% 5 0% - - - superfamily_ARM repeat ZYG11A 440590 genome.wustl.edu 37 1 53347206 53347206 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000371528 +1 known p.I605V 0.144 136 0% 68 51.5% 0 - benign(0) tolerated(0.35) neutral(0.021) superfamily_ARM repeat ECHDC2 55268 genome.wustl.edu 37 1 53377404 53377404 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018281.2 -1 validated p.F60 0.023 16 0% 27 48.1% 33 18.1% - - - HMMPfam_ECH,superfamily_SSF52096 PODN 127435 genome.wustl.edu 37 1 53544107 53544107 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153703.3 +1 validated p.R357C 0.954 11 0% 16 50% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_LRR_TYP,superfamily_SSF52047,superfamily_SSF52058 PODN 127435 genome.wustl.edu 37 1 53546513 53546513 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153703.3 +1 validated p.F590 0.964 20 0% 23 52.2% 2 0% - - - HMMPfam_LRR_1,superfamily_SSF52047 SLC1A7 6512 genome.wustl.edu 37 1 53556420 53556420 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006671.4 -1 validated p.R364C 1.000 33 0% 33 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SDF SLC1A7 6512 genome.wustl.edu 37 1 53580439 53580439 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006671.4 -1 validated p.D141A 1.000 30 0% 28 42.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SDF CPT2 1376 genome.wustl.edu 37 1 53676857 53676857 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000098.2 +1 reviewed p.P504L 1.000 22 0% 28 46.4% 28 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases MAGOH 4116 genome.wustl.edu 37 1 53699276 53699276 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002370.2 -1 reviewed p.D66N 1.000 312 0% 169 37.3% 111 40.5% benign(0.307) tolerated(0.05) neutral(0.441) HMMPfam_Mago_nashi,superfamily_Mago nashi protein TMEM48 55706 genome.wustl.edu 37 1 54262667 54262667 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018087.4 -1 validated p.R458Q 0.970 123 0% 65 44.6% 20 30% benign(0.005) tolerated(0.37) neutral(0.019) HMMPfam_Ndc1_Nup TCEANC2 127428 genome.wustl.edu 37 1 54554318 54554318 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153035.1 +1 predicted p.S98Y 0.623 158 0% 50 52% 1 100% possibly_damaging(0.91) deleterious(0.03) deleterious(0.727) HMMSmart_SM00509,HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70 TTC4 7268 genome.wustl.edu 37 1 55197286 55197286 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004623.3 +1 validated p.G270D 0.968 72 0% 52 55.8% 7 57.1% benign(0) tolerated(0.61) neutral(0.004) NULL TTC22 55001 genome.wustl.edu 37 1 55252683 55252683 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114108.1 -1 validated p.G269C 1.000 11 0% 15 40% 8 50% possibly_damaging(0.633) tolerated(0.18) neutral(0.277) superfamily_TPR-like C1orf177 163747 genome.wustl.edu 37 1 55273664 55273664 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001110533.1 +1 validated p.R154C 0.519 43 0% 40 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM61 199964 genome.wustl.edu 37 1 55451923 55451923 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182532.1 +1 provisional p.P57S 0.039 7 0.000 12 0.333 10 40% probably_damaging(0.998) - - NULL BSND 7809 genome.wustl.edu 37 1 55464948 55464948 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_057176.2 +1 reviewed p.R30Q 1.000 25 0% 26 42.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL BSND 7809 genome.wustl.edu 37 1 55470703 55470703 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_057176.2 +1 reviewed p.F62 0.515 82 0% 53 54.7% 0 - - - - NULL PCSK9 255738 genome.wustl.edu 37 1 55509656 55509656 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174936.2 +1 reviewed p.H116 0.023 25 0% 25 16% 1 100% - - - superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9 USP24 23358 genome.wustl.edu 37 1 55614225 55614225 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015306.2 -1 validated p.P467T 1.000 317 0% 104 38.5% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL USP24 23358 genome.wustl.edu 37 1 55619923 55619923 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015306.2 -1 validated p.L417I 1.000 156 0% 67 40.3% 6 66.6% probably_damaging(0.982) tolerated(0.27) neutral(0.460) NULL USP24 23358 genome.wustl.edu 37 1 55623007 55623007 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015306.2 -1 validated p.S310P 1.000 427 0% 88 10.2% 6 0% benign(0.001) tolerated(0.2) neutral(0.049) NULL PRKAA2 5563 genome.wustl.edu 37 1 57158174 57158174 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006252.3 +1 validated p.F158 1.000 131 0% 51 19.6% 1 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase C1orf168 199920 genome.wustl.edu 37 1 57202812 57202812 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004303.4 -1 validated p.S581P 0.969 344 0% 87 40.2% 0 - benign(0.047) tolerated(0.09) neutral(0.299) NULL C1orf168 199920 genome.wustl.edu 37 1 57257978 57257978 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004303.4 -1 validated p.E170K 0.006 182 0% 68 50% 0 - benign(0.004) deleterious(0) neutral(0.445) NULL C8B 732 genome.wustl.edu 37 1 57395172 57395172 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000066.2 -1 reviewed p.R561C 0.674 184 0% 73 43.8% 0 - possibly_damaging(0.888) deleterious(0.03) deleterious(0.712) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat DAB1 1600 genome.wustl.edu 37 1 57602294 57602294 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021080.3 -1 reviewed p.R76 0.962 293 0% 99 13.1% 1 0% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like OMA1 115209 genome.wustl.edu 37 1 58971763 58971763 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145243.3 -1 provisional p.R445Q 1.000 137 0% 54 14.8% 20 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M48 C1orf87 127795 genome.wustl.edu 37 1 60499180 60499180 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152377.1 -1 predicted p.R333C 0.722 249 0% 127 48% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_EF-hand INADL 10207 genome.wustl.edu 37 1 62237151 62237151 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176877.2 +1 reviewed p.T191 0.004 176 0.6% 103 38.8% 5 60% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like INADL 10207 genome.wustl.edu 37 1 62374080 62374080 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176877.2 +1 reviewed p.E1140K 1.000 179 0% 75 38.7% 14 21.4% probably_damaging(0.981) tolerated(0.2) deleterious(0.474) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like L1TD1 54596 genome.wustl.edu 37 1 62676338 62676338 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019079.4 +1 validated p.E631A 0.000 122 0% 43 37.2% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL L1TD1 54596 genome.wustl.edu 37 1 62676465 62676465 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019079.4 +1 validated p.F673L 0.000 146 0% 59 44.1% 0 - benign(0.101) tolerated(0.95) neutral(0.007) HMMPfam_Transposase_22 KANK4 163782 genome.wustl.edu 37 1 62740692 62740692 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181712.4 -1 validated p.E28D 1.000 124 0% 72 37.5% 32 43.7% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL USP1 7398 genome.wustl.edu 37 1 62910554 62910554 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017415.1 +1 reviewed p.E235* 0.961 141 0% 55 40% 14 35.7% - - - HMMPfam_UCH,superfamily_SSF54001 DOCK7 85440 genome.wustl.edu 37 1 62976255 62976255 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033407.2 -1 validated p.L1427I 0.996 269 0% 119 42.9% 6 16.6% benign(0.022) tolerated(0.21) neutral(0.045) NULL DOCK7 85440 genome.wustl.edu 37 1 63018457 63018457 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033407.2 -1 validated p.I904M 0.998 116 0% 62 45.2% 15 46.6% possibly_damaging(0.908) deleterious(0.01) deleterious(0.767) NULL DOCK7 85440 genome.wustl.edu 37 1 63024812 63024812 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033407.2 -1 validated p.R760Q 1.000 236 0% 109 49.5% 12 66.6% possibly_damaging(0.941) tolerated(0.32) neutral(0.411) NULL ALG6 29929 genome.wustl.edu 37 1 63902566 63902566 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013339.3 +1 reviewed p.P467S 0.999 481 0% 158 15.2% 17 11.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alg6_Alg8 ROR1 4919 genome.wustl.edu 37 1 64644105 64644105 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005012.2 +1 validated p.Q794R 1.000 30 0% 30 30% 5 40% possibly_damaging(0.679) tolerated(0.61) neutral(0.246) NULL CACHD1 57685 genome.wustl.edu 37 1 65139146 65139146 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020925.2 +1 validated p.A858V 0.988 145 0% 77 33.8% 12 58.3% benign(0) tolerated(0.53) neutral(0.007) NULL JAK1 3716 genome.wustl.edu 37 1 65303760 65303760 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002227.2 -1 reviewed p.Y999H 0.997 136 0% 86 44.2% 17 5.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like JAK1 3716 genome.wustl.edu 37 1 65311309 65311309 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002227.2 -1 reviewed p.E668* 1.000 70 0% 65 55.4% 4 25% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like JAK1 3716 genome.wustl.edu 37 1 65339153 65339153 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002227.2 -1 reviewed p.R128H 1.000 198 0% 119 37% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_B41 DNAJC6 9829 genome.wustl.edu 37 1 65831791 65831791 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014787.2 +1 validated p.R95Q 1.000 315 0% 105 41.9% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_(Phosphotyrosine protein) phosphatases II LEPR 3953 genome.wustl.edu 37 1 66075638 66075638 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002303.4 +1 reviewed p.E587 0.143 323 0% 147 40.8% 0 - - - - HMMSmart_SM00060,superfamily_Fibronectin type III LEPR 3953 genome.wustl.edu 37 1 66102622 66102622 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002303.4 +1 reviewed p.Y1141C 1.000 150 0% 34 47.1% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDE4B 5142 genome.wustl.edu 37 1 66713282 66713282 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037341.1 +1 reviewed p.D141N 1.000 85 0% 44 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDE4B 5142 genome.wustl.edu 37 1 66829176 66829176 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037341.1 +1 reviewed p.D402 0.194 78 0% 30 40% 12 8.3% - - - superfamily_HD-domain/PDEase-like SGIP1 84251 genome.wustl.edu 37 1 67155943 67155943 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032291.2 +1 validated p.S505N 1.000 196 0% 106 46.2% 0 - possibly_damaging(0.706) deleterious(0) deleterious(0.699) NULL WDR78 79819 genome.wustl.edu 37 1 67301343 67301343 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024763.4 -1 validated p.R567W 0.996 149 0% 55 38.2% 0 - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) superfamily_WD40 repeat-like C1orf141 400757 genome.wustl.edu 37 1 67591496 67591496 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013674.1 -1 predicted p.A58T 0.000 570 0% 263 47.1% 0 - benign(0.001) tolerated(0.52) neutral(0.009) NULL IL23R 149233 genome.wustl.edu 37 1 67724466 67724466 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000425614 +1 known p.P277H 0.004 110 0% 26 38.5% 0 - - - - NULL IL12RB2 3595 genome.wustl.edu 37 1 67852307 67852307 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001559.2 +1 reviewed p.A634V 0.243 179 0% 116 14.7% 0 - benign(0.183) deleterious(0) neutral(0.462) NULL DEPDC1 55635 genome.wustl.edu 37 1 68948316 68948316 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114120.1 -1 validated p.A392D 0.058 411 0% 114 41.2% 5 80% possibly_damaging(0.808) tolerated(0.68) neutral(0.306) superfamily_Rho_GAP LRRC7 57554 genome.wustl.edu 37 1 70502161 70502161 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020794.2 +1 validated p.H676Q 1.000 190 0% 100 40% 1 0% benign(0) deleterious(0) neutral(0.445) NULL LRRC7 57554 genome.wustl.edu 37 1 70504863 70504863 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020794.2 +1 validated p.P1081L 0.993 83 0% 52 50% 2 50% benign(0.301) deleterious(0.04) neutral(0.442) NULL ANKRD13C 81573 genome.wustl.edu 37 1 70790585 70790585 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030816.4 -1 validated p.Q176 1.000 113 0% 55 58.2% 11 54.5% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ZRANB2 9406 genome.wustl.edu 37 1 71544139 71544139 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203350.1 -1 validated e3+1 1.000 280 0% 97 32% 0 - - - - - LRRIQ3 127255 genome.wustl.edu 37 1 74648256 74648256 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105659.1 -1 provisional p.R180Q 0.005 135 0% 79 40.5% 0 - possibly_damaging(0.582) tolerated(0.22) neutral(0.242) NULL FPGT 8790 genome.wustl.edu 37 1 74671126 74671126 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003838.2 +1 reviewed p.K465N 0.029 154 0% 92 50% 3 66.6% possibly_damaging(0.861) tolerated(0.2) neutral(0.382) HMMPfam_Fucokinase TNNI3K 51086 genome.wustl.edu 37 1 74835139 74835139 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001112808.1 +1 validated p.L614I 1.000 324 0% 74 44.6% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TNNI3K 51086 genome.wustl.edu 37 1 74836064 74836064 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001112808.1 +1 validated p.R688H 1.000 278 0% 51 31.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TNNI3K 51086 genome.wustl.edu 37 1 74957895 74957895 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001112808.1 +1 validated p.R867C 1.000 342 0% 118 47.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C1orf173 127254 genome.wustl.edu 37 1 75086449 75086449 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002912.4 -1 validated p.L323 0.076 269 0% 95 42.1% 0 - - - - NULL C1orf173 127254 genome.wustl.edu 37 1 75108727 75108727 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002912.4 -1 validated p.R100Q 0.766 306 0% 75 45.3% 0 - benign(0.003) deleterious(0.02) neutral(0.383) NULL C1orf173 127254 genome.wustl.edu 37 1 75112384 75112384 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002912.4 -1 validated p.A70 0.907 204 0% 53 13.2% 0 - - - - NULL TYW3 127253 genome.wustl.edu 37 1 75204397 75204397 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138467.2 +1 validated p.N93 0.000 321 0% 141 46.1% 25 32% - - - HMMPfam_TYW3,superfamily_DUF207 LHX8 431707 genome.wustl.edu 37 1 75626554 75626554 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001933.1 +1 validated p.T349A 1.000 406 0% 109 23.9% 0 - benign(0.051) tolerated(0.43) neutral(0.017) NULL SLC44A5 204962 genome.wustl.edu 37 1 75685512 75685512 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152697.4 -1 validated p.C384Y 1.000 242 0% 69 47.8% 1 100% benign(0.059) deleterious(0) neutral(0.449) HMMPfam_DUF580 ACADM 34 genome.wustl.edu 37 1 76226871 76226871 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127328.1 +1 reviewed p.Y341C 1.000 167 0% 89 37.1% 33 36.3% benign(0.044) tolerated(0.08) neutral(0.302) HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like MSH4 4438 genome.wustl.edu 37 1 76343918 76343918 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002440.2 +1 validated p.Q485H 1.000 227 0% 77 44.2% 0 - benign(0.15) tolerated(0.06) neutral(0.336) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII MSH4 4438 genome.wustl.edu 37 1 76356485 76356485 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002440.2 +1 validated p.V777 1.000 695 0% 248 37.9% 0 - - - - HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 MSH4 4438 genome.wustl.edu 37 1 76363690 76363690 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002440.2 +1 validated p.K818N 0.540 307 0% 77 50.6% 0 - benign(0.005) tolerated(0.25) neutral(0.037) HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 ST6GALNAC3 256435 genome.wustl.edu 37 1 76779542 76779542 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152996.2 +1 validated p.V24A 0.811 255 0% 81 33.3% 1 0% benign(0) tolerated(0.32) neutral(0.024) HMMPfam_Glyco_transf_29 AK5 26289 genome.wustl.edu 37 1 77759542 77759542 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174858.1 +1 reviewed p.F104L 1.000 136 0% 56 30.4% 2 50% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL AK5 26289 genome.wustl.edu 37 1 77984325 77984325 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174858.1 +1 reviewed p.G408 0.020 78 0% 46 56.5% 3 33.3% - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases AK5 26289 genome.wustl.edu 37 1 77987554 77987554 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174858.1 +1 reviewed p.L452F 0.998 40 0% 30 33.3% 8 12.5% possibly_damaging(0.512) tolerated(0.21) neutral(0.216) HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases ZZZ3 26009 genome.wustl.edu 37 1 78098306 78098306 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015534.4 -1 provisional p.T245M 0.599 244 0% 82 43.9% 15 60% benign(0.108) deleterious(0.05) neutral(0.354) NULL USP33 23032 genome.wustl.edu 37 1 78163050 78163050 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015017.3 -1 validated p.D927 0.007 264 0% 91 40.7% 22 50% - - - NULL USP33 23032 genome.wustl.edu 37 1 78180399 78180399 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015017.3 -1 validated p.S736 1.000 467 0% 168 36.9% 32 56.2% - - - HMMSmart_SM00695 USP33 23032 genome.wustl.edu 37 1 78194045 78194045 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015017.3 -1 validated p.I388T 0.046 399 0% 124 42.7% 16 50% benign(0) tolerated(0.31) neutral(0.027) HMMPfam_UCH,superfamily_Cysteine proteinases FAM73A 374986 genome.wustl.edu 37 1 78280802 78280802 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198549.2 +1 predicted p.S261R 1.000 202 0% 104 47.1% 4 25% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMPfam_DUF2217 FAM73A 374986 genome.wustl.edu 37 1 78280910 78280910 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198549.2 +1 predicted p.D297N 1.000 306 0% 156 41.7% 4 25% benign(0.185) tolerated(0.13) neutral(0.270) HMMPfam_DUF2217 FAM73A 374986 genome.wustl.edu 37 1 78338773 78338773 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198549.2 +1 predicted p.N550H 1.000 710 0% 428 45.1% 2 0% possibly_damaging(0.822) tolerated(0.09) deleterious(0.607) HMMPfam_DUF2217 NEXN 91624 genome.wustl.edu 37 1 78407733 78407733 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000342754 +1 known p.Q400* 1.000 103 0% 44 52.3% 3 33.3% benign(0.01) tolerated(0.3) neutral(0.029) NULL GIPC2 54810 genome.wustl.edu 37 1 78585102 78585102 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017655.4 +1 validated p.G211 0.300 158 0% 73 45.2% 0 - - - - superfamily_PDZ IFI44L 10964 genome.wustl.edu 37 1 79102845 79102845 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006820.2 +1 validated p.M335I 0.976 370 0% 114 14.9% 1 0% probably_damaging(0.955) tolerated(0.38) neutral(0.416) superfamily_P-loop containing nucleoside triphosphate hydrolases ELTD1 64123 genome.wustl.edu 37 1 79383686 79383686 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022159.3 -1 validated p.A504D 1.000 135 0% 38 55.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2 DNASE2B 58511 genome.wustl.edu 37 1 84880444 84880444 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021233.2 +1 reviewed p.R327W 1.000 90 0% 45 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNase_II RPF1 80135 genome.wustl.edu 37 1 84956011 84956011 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025065.6 +1 validated p.R158* 0.946 183 0% 80 38.8% 34 20.5% - - - HMMPfam_Brix RPF1 80135 genome.wustl.edu 37 1 84956094 84956094 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025065.6 +1 validated p.P185 0.577 185 0% 73 52.1% 18 72.2% - - - HMMPfam_Brix SPATA1 100505741 genome.wustl.edu 37 1 84991731 84991731 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081472.1 +1 validated p.E195 0.089 87 0% 37 29.7% 0 - - - - NULL SSX2IP 117178 genome.wustl.edu 37 1 85127944 85127944 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014021.3 -1 reviewed p.M288I 1.000 773 0% 223 43.5% 13 30.7% benign(0.058) tolerated(0.1) neutral(0.290) NULL SSX2IP 117178 genome.wustl.edu 37 1 85135515 85135515 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014021.3 -1 reviewed p.R92I 1.000 528 0% 115 40% 12 50% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) NULL MCOLN3 55283 genome.wustl.edu 37 1 85506705 85506705 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018298.9 -1 validated p.F128 0.992 289 0% 147 39.5% 0 - - - - NULL WDR63 126820 genome.wustl.edu 37 1 85547008 85547008 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145172.3 +1 validated p.P65 0.708 289 0% 78 35.9% 0 - - - - NULL WDR63 126820 genome.wustl.edu 37 1 85570251 85570251 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145172.3 +1 validated p.C508 0.974 330 0% 205 43.9% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR63 126820 genome.wustl.edu 37 1 85595745 85595745 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145172.3 +1 validated p.R828C 0.983 146 0% 45 48.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C1orf52 148423 genome.wustl.edu 37 1 85718386 85718386 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198077.3 -1 validated e3-1 1.000 420 0% 210 43.3% 2 50% - - - - DDAH1 23576 genome.wustl.edu 37 1 85787231 85787231 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012137.3 -1 reviewed p.D254 1.000 114 0% 69 40.6% 36 36.1% - - - HMMPfam_Amidinotransf,superfamily_Pentein ZNHIT6 54680 genome.wustl.edu 37 1 86173389 86173389 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017953.3 -1 validated p.I193 0.003 424 0% 275 41.5% 2 0% - - - NULL COL24A1 255631 genome.wustl.edu 37 1 86590893 86590893 + Missense_Mutation SNP T T C rs181596776 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152890.5 -1 validated p.N376D 0.004 312 0.6% 81 48.1% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL ODF2L 57489 genome.wustl.edu 37 1 86836790 86836790 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020729.2 -1 validated p.G323* 0.993 445 0% 139 37.4% 2 0% - - - NULL CLCA2 9635 genome.wustl.edu 37 1 86919124 86919124 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006536.5 +1 reviewed p.R743Q 0.987 97 0% 31 29% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLCA1 1179 genome.wustl.edu 37 1 86961211 86961211 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001285.3 +1 reviewed p.G656S 1.000 181 0% 62 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1973 SH3GLB1 51100 genome.wustl.edu 37 1 87188297 87188297 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016009.3 +1 validated p.A140S 1.000 231 0.4% 71 12.7% 13 7.6% benign(0.047) tolerated(0.69) neutral(0.005) HMMPfam_BAR,HMMSmart_SM00721 PKN2 5586 genome.wustl.edu 37 1 89206678 89206678 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006256.2 +1 validated p.S19F 1.000 123 0% 51 35.3% 2 0% benign(0.054) deleterious(0.04) neutral(0.352) NULL CCBL2 56267 genome.wustl.edu 37 1 89414893 89414893 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000260508 -1 known p.S341F 1.000 251 0% 88 35.2% 18 22.2% possibly_damaging(0.924) deleterious(0.02) deleterious(0.756) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases CCBL2 56267 genome.wustl.edu 37 1 89427770 89427770 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000260508 -1 known p.A171V 0.947 146 0% 53 52.8% 7 28.5% benign(0.005) deleterious(0) neutral(0.445) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases RBMXL1 494115 genome.wustl.edu 37 1 89448637 89448637 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000321792 -1 known p.S291 1.000 141 0% 106 12.3% 21 9.5% - - - NULL RBMXL1 494115 genome.wustl.edu 37 1 89448995 89448995 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000321792 -1 known p.R172H 0.998 206 0% 121 29.8% 10 40% probably_damaging(0.991) tolerated(0.08) deleterious(0.744) NULL RBMXL1 494115 genome.wustl.edu 37 1 89449041 89449041 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000321792 -1 known p.S157R 1.000 181 0.6% 96 45.8% 17 35.2% benign(0.014) tolerated(0.48) neutral(0.011) NULL GBP3 2635 genome.wustl.edu 37 1 89477689 89477689 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018284.2 -1 reviewed p.T297I 0.991 35 0% 18 100% 7 71.4% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_GBP_C,superfamily_GBP GBP3 2635 genome.wustl.edu 37 1 89486297 89486297 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018284.2 -1 reviewed p.Q36 0.996 191 0% 126 42.1% 2 0% - - - superfamily_SSF52540 GBP1 2633 genome.wustl.edu 37 1 89522765 89522765 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002053.2 -1 validated p.L309 0.967 68 0% 43 58.1% 19 15.7% - - - HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain GBP7 388646 genome.wustl.edu 37 1 89613351 89613351 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207398.2 -1 validated p.S422P 0.768 396 0% 129 42.6% 0 - possibly_damaging(0.807) deleterious(0.04) deleterious(0.653) HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain GBP7 388646 genome.wustl.edu 37 1 89616058 89616058 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207398.2 -1 validated p.A276T 0.001 312 0.3% 123 43.1% 0 - benign(0.055) tolerated(0.22) neutral(0.046) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GBP7 388646 genome.wustl.edu 37 1 89637511 89637511 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207398.2 -1 validated p.Q36H 0.028 145 0% 90 51.1% 0 - benign(0.298) deleterious(0) deleterious(0.536) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GBP4 115361 genome.wustl.edu 37 1 89652718 89652718 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052941.4 -1 validated p.D493G 0.980 121 0% 70 14.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GBP_C,superfamily_GBP GBP4 115361 genome.wustl.edu 37 1 89655869 89655869 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052941.4 -1 validated p.S350I 0.009 76 0% 64 18.8% 5 0% possibly_damaging(0.671) deleterious(0.01) deleterious(0.643) HMMPfam_GBP_C,superfamily_GBP GBP5 115362 genome.wustl.edu 37 1 89727932 89727932 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134486.1 -1 validated p.Q540* 0.044 225 0% 155 47.7% 11 0% - - - HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain GBP5 115362 genome.wustl.edu 37 1 89728048 89728048 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134486.1 -1 validated p.A501V 0.003 239 0% 155 45.2% 12 0% benign(0.046) tolerated(0.23) neutral(0.044) HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain LRRC8B 23507 genome.wustl.edu 37 1 90049898 90049898 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134476.1 +1 validated p.L563 1.000 87 0% 32 50% 6 50% - - - superfamily_SSF52058 LRRC8C 84230 genome.wustl.edu 37 1 90179160 90179160 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032270.4 +1 validated p.R344H 1.000 70 2.9% 34 38.2% 4 0% benign(0.43) deleterious(0.04) deleterious(0.489) NULL LRRC8D 55144 genome.wustl.edu 37 1 90399486 90399486 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134479.1 +1 validated p.L287M 1.000 66 0% 39 23.1% 22 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC8D 55144 genome.wustl.edu 37 1 90400620 90400620 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134479.1 +1 validated p.L665V 1.000 140 0% 72 58.3% 18 44.4% possibly_damaging(0.854) deleterious(0) deleterious(0.774) HMMPfam_LRR_1,superfamily_SSF52058 LRRC8D 55144 genome.wustl.edu 37 1 90401182 90401182 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134479.1 +1 validated p.I852S 0.093 22 0% 14 57.1% 27 44.4% benign(0) deleterious(0.02) neutral(0.383) NULL ZNF326 284695 genome.wustl.edu 37 1 90473243 90473243 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182976.2 +1 validated p.S183 1.000 89 0% 43 11.6% 21 14.2% - - - NULL ZNF326 284695 genome.wustl.edu 37 1 90482925 90482925 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182976.2 +1 validated p.D326Y 1.000 333 0% 117 41.9% 19 47.3% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) HMMPfam_AKAP95 BARHL2 343472 genome.wustl.edu 37 1 91182684 91182684 + Silent SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020063.1 -1 validated p.G23 1.000 44 0% 37 27% 0 - - - - NULL ZNF644 84146 genome.wustl.edu 37 1 91406449 91406449 + Silent SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201269.1 -1 validated p.T154 1.000 79 0% 55 54.5% 8 50% - - - NULL HFM1 164045 genome.wustl.edu 37 1 91817109 91817109 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017975.3 -1 validated p.S690N 1.000 378 0% 119 39.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases HFM1 164045 genome.wustl.edu 37 1 91859806 91859806 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017975.3 -1 validated p.D113G 0.176 347 0% 111 31.5% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL TGFBR3 7049 genome.wustl.edu 37 1 92181810 92181810 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003243.3 -1 validated p.G617R 0.998 173 0% 100 41% 1 0% benign(0.045) tolerated(0.69) neutral(0.005) HMMPfam_Zona_pellucida,HMMSmart_ZP BRDT 676 genome.wustl.edu 37 1 92446296 92446296 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001726.3 +1 validated p.E462* 0.011 198 0% 73 41.1% 0 - - - - NULL BRDT 676 genome.wustl.edu 37 1 92479792 92479792 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001726.3 +1 validated p.Q935H 1.000 221 0% 78 37.2% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL EPHX4 253152 genome.wustl.edu 37 1 92518156 92518156 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173567.4 +1 validated p.Y266 1.000 253 0% 88 47.7% 2 0% - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 LOC646817 646817 genome.wustl.edu 37 1 92540629 92540629 + Missense_Mutation SNP C C T rs187962727 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_929774.4 -1 model p.E124K 1.000 58 0% 19 36.8% 0 - - - - HMMPfam_NAP RPAP2 79871 genome.wustl.edu 37 1 92798972 92798972 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000370343 +1 known p.D494N 1.000 362 0% 133 48.1% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GFI1 2672 genome.wustl.edu 37 1 92944259 92944259 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127215.1 -1 reviewed p.T326A 1.000 152 0% 112 46.4% 4 25% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 EVI5 7813 genome.wustl.edu 37 1 92979254 92979254 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005665.4 -1 validated p.R798W 0.068 102 0% 39 33.3% 3 33.3% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL EVI5 7813 genome.wustl.edu 37 1 93159945 93159945 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005665.4 -1 validated p.G348S 1.000 209 0% 62 48.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p FAM69A 388650 genome.wustl.edu 37 1 93309649 93309649 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006605.3 -1 reviewed p.S193L 1.000 64 0% 38 55.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTF2 22823 genome.wustl.edu 37 1 93575797 93575797 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007358.3 +1 validated p.G6W 1.000 135 0% 61 32.8% 6 50% possibly_damaging(0.686) deleterious(0.01) deleterious(0.651) NULL MTF2 22823 genome.wustl.edu 37 1 93594890 93594890 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007358.3 +1 validated p.R349C 1.000 339 0.3% 129 47.3% 9 44.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL BCAR3 8412 genome.wustl.edu 37 1 94027838 94027838 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003567.2 -1 reviewed p.R813H 1.000 213 0% 113 38.1% 7 42.8% probably_damaging(1) tolerated(0.68) deleterious(0.502) HMMSmart_SM00147 DNTTIP2 30836 genome.wustl.edu 37 1 94342395 94342395 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014597.3 -1 provisional p.T366A 0.000 544 0.2% 334 47.3% 24 45.8% possibly_damaging(0.775) deleterious(0.02) deleterious(0.671) NULL DNTTIP2 30836 genome.wustl.edu 37 1 94342500 94342500 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014597.3 -1 provisional p.L331I 0.000 333 0% 188 18.1% 31 32.2% benign(0.002) tolerated(0.47) neutral(0.011) NULL ABCA4 24 genome.wustl.edu 37 1 94528133 94528133 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000350.2 -1 reviewed p.S646F 1.000 35 0% 18 55.6% 0 - benign(0.067) tolerated(0.06) neutral(0.327) NULL ABCA4 24 genome.wustl.edu 37 1 94546152 94546152 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000350.2 -1 reviewed p.P327 0.387 152 0% 81 55.6% 0 - - - - NULL ARHGAP29 9411 genome.wustl.edu 37 1 94650932 94650932 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004815.3 -1 validated p.G629D 1.000 393 0% 191 39.8% 17 52.9% probably_damaging(0.979) tolerated(0.05) deleterious(0.767) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain ABCD3 5825 genome.wustl.edu 37 1 94940703 94940703 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002858.3 +1 reviewed p.S137F 1.000 239 0% 68 30.9% 30 53.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_ABC_membrane_2,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCD3 5825 genome.wustl.edu 37 1 94980727 94980727 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002858.3 +1 reviewed p.S624Y 1.000 621 0% 170 35.9% 33 60.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC44A3 126969 genome.wustl.edu 37 1 95303290 95303290 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114106.1 +1 validated p.R178Q 1.000 400 0% 174 39.1% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC44A3 126969 genome.wustl.edu 37 1 95360465 95360465 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114106.1 +1 validated p.A650V 0.555 120 0% 60 35% 15 53.3% benign(0.014) tolerated(0.06) neutral(0.323) NULL RWDD3 25950 genome.wustl.edu 37 1 95710193 95710193 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015485.4 +1 validated p.R171I 1.000 153 0% 64 39.1% 15 53.3% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL PTBP2 58155 genome.wustl.edu 37 1 97272491 97272491 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021190.2 +1 reviewed p.A383V 1.000 357 0% 158 34.2% 13 38.4% benign(0.004) deleterious(0.01) neutral(0.406) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD DPYD 1806 genome.wustl.edu 37 1 98015165 98015165 + Missense_Mutation SNP G G A rs72549304 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000110.3 -1 reviewed p.S492L 1.000 194 0% 62 40.3% 0 - possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL SNX7 51375 genome.wustl.edu 37 1 99150472 99150472 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015976.3 +1 reviewed p.S71N 1.000 290 0% 98 43.9% 32 53.1% benign(0.019) tolerated(0.24) neutral(0.038) NULL PALMD 54873 genome.wustl.edu 37 1 100155013 100155013 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017734.4 +1 validated p.I399 0.336 38 0% 18 55.6% 18 33.3% - - - NULL AGL 178 genome.wustl.edu 37 1 100316616 100316616 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000028.2 +1 reviewed p.Q6H 1.000 382 0% 232 38.4% 5 20% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL SLC35A3 23443 genome.wustl.edu 37 1 100464841 100464841 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012243.1 +1 provisional p.R71Q 1.000 307 0% 97 38.1% 16 56.2% benign(0.04) tolerated(0.26) neutral(0.037) HMMPfam_Nuc_sug_transp GPR88 54112 genome.wustl.edu 37 1 101004652 101004652 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022049.2 +1 validated p.G44R 1.000 9 0.000 12 0.667 1 0% possibly_damaging(0.85) tolerated(0.1) deleterious(0.613) superfamily_SSF81321 EXTL2 2135 genome.wustl.edu 37 1 101339738 101339738 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033025.1 -1 validated p.I251 0.994 186 0% 35 51.4% 6 50% - - - HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases EXTL2 2135 genome.wustl.edu 37 1 101343236 101343236 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033025.1 -1 validated p.D77Y 1.000 265 0% 65 13.8% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases S1PR1 1901 genome.wustl.edu 37 1 101704859 101704859 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001400.4 +1 reviewed p.A107T 0.993 65 0% 51 39.2% 1 100% benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_7tm_1,superfamily_SSF81321 OLFM3 118427 genome.wustl.edu 37 1 102270432 102270432 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_058170.2 -1 validated p.R247C 1.000 54 0% 18 33.3% 0 - possibly_damaging(0.836) tolerated(0.07) deleterious(0.639) HMMPfam_OLF,HMMSmart_SM00284 COL11A1 1301 genome.wustl.edu 37 1 103381191 103381191 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080629.2 -1 reviewed p.V1283A 0.038 232 0% 85 40% 1 0% unknown(0) tolerated(0.72) - HMMPfam_Collagen COL11A1 1301 genome.wustl.edu 37 1 103484403 103484403 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080629.2 -1 reviewed p.E453K 1.000 102 0% 47 42.6% 0 - unknown(0) deleterious(0.04) - NULL COL11A1 1301 genome.wustl.edu 37 1 103488529 103488529 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080629.2 -1 reviewed p.F350 1.000 315 0% 128 45.3% 0 - - - - NULL COL11A1 1301 genome.wustl.edu 37 1 103548505 103548505 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080629.2 -1 reviewed p.A44T 1.000 380 0.3% 146 40.4% 1 0% unknown(0) tolerated(0.09) - HMMSmart_TSPN AMY2B 280 genome.wustl.edu 37 1 104120220 104120220 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020978.3 +1 reviewed p.R404C 1.000 190 0% 77 40.3% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_(Trans)glycosidases LOC126987 126987 genome.wustl.edu 37 1 106623363 106623363 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342097.1 -1 model p.A232 0.039 9 0.000 15 0.400 0 - - - - NULL NTNG1 22854 genome.wustl.edu 37 1 107867232 107867232 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113226.1 +1 validated p.S192F 1.000 177 0% 63 39.7% 1 0% possibly_damaging(0.942) tolerated(0.16) neutral(0.447) HMMPfam_Laminin_N,HMMSmart_SM00136 NTNG1 22854 genome.wustl.edu 37 1 107937833 107937833 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113226.1 +1 validated p.C315 1.000 96 0% 44 54.5% 2 0% - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_1,superfamily_EGF/Laminin VAV3 10451 genome.wustl.edu 37 1 108291630 108291630 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006113.4 -1 reviewed p.D488Y 1.000 613 0% 163 36.8% 1 100% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like VAV3 10451 genome.wustl.edu 37 1 108303481 108303481 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006113.4 -1 reviewed p.N314K 1.000 145 0% 72 44.4% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) PRPF38B 55119 genome.wustl.edu 37 1 109242235 109242235 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018061.2 +1 validated p.H412Y 1.000 226 0% 112 12.5% 36 8.3% unknown(0) deleterious(0.01) - NULL PRPF38B 55119 genome.wustl.edu 37 1 109242529 109242529 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018061.2 +1 validated p.R510* 1.000 94 0% 37 37.8% 63 41.2% - - - NULL STXBP3 6814 genome.wustl.edu 37 1 109325119 109325119 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007269.2 +1 validated p.R295 1.000 225 0% 78 15.4% 19 31.5% - - - HMMPfam_Sec1,superfamily_Sec1-like WDR47 22911 genome.wustl.edu 37 1 109554195 109554195 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142550.1 -1 validated p.S165I 1.000 182 0% 98 43.9% 9 44.4% possibly_damaging(0.799) tolerated(0.11) deleterious(0.573) NULL KIAA1324 57535 genome.wustl.edu 37 1 109714584 109714584 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020775.3 +1 validated p.T188 0.008 52 0% 38 42.1% 186 38.7% - - - superfamily_Growth factor receptor domain KIAA1324 57535 genome.wustl.edu 37 1 109727694 109727694 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020775.3 +1 validated p.R327H 1.000 54 0% 32 28.1% 103 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Growth factor receptor domain SORT1 6272 genome.wustl.edu 37 1 109870177 109870177 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002959.4 -1 reviewed p.N473S 0.899 93 0% 49 34.7% 18 38.8% benign(0.002) tolerated(0.25) neutral(0.037) HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase PSMA5 5686 genome.wustl.edu 37 1 109953692 109953692 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002790.2 -1 reviewed p.R168* 1.000 95 1.1% 44 45.5% 94 8.5% - - - HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) ATXN7L2 127002 genome.wustl.edu 37 1 110033934 110033934 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153340.4 +1 validated p.R583 1.000 30 0% 29 51.7% 4 25% - - - NULL GSTM5 2949 genome.wustl.edu 37 1 110257949 110257949 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000369813 +1 known p.K177N 0.000 131 0% 104 39.4% 0 - possibly_damaging(0.662) deleterious(0) deleterious(0.678) NULL GSTM3 2947 genome.wustl.edu 37 1 110279761 110279761 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000849.4 -1 reviewed p.S204A 1.000 108 0% 49 38.8% 99 44.4% benign(0.186) deleterious(0.02) neutral(0.401) superfamily_Glutathione S-transferase (GST) C-terminal domain EPS8L3 79574 genome.wustl.edu 37 1 110301960 110301960 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139053.1 -1 reviewed p.A102V 0.027 32 0% 23 56.5% 0 - benign(0) tolerated(1) - HMMPfam_PTB CSF1 1435 genome.wustl.edu 37 1 110466479 110466479 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000757.4 +1 validated p.G412 0.000 19 0% 20 20% 13 46.1% - - - HMMPfam_CSF-1 AHCYL1 10768 genome.wustl.edu 37 1 110559349 110559349 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006621.4 +1 validated p.G320 1.000 689 0% 313 44.7% 58 31% - - - HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,PatternScan_ADOHCYASE_2,superfamily_Formate/glycerate dehydrogenase catalytic domain-like FAM40A 85369 genome.wustl.edu 37 1 110594436 110594436 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033088.2 +1 validated p.S731 1.000 48 0% 39 43.6% 21 66.6% - - - NULL RBM15 64783 genome.wustl.edu 37 1 110884673 110884673 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022768.4 +1 validated p.T882 0.997 62 0% 52 34.6% 8 50% - - - HMMPfam_SPOC,superfamily_SPOC domain-like KCNA10 3744 genome.wustl.edu 37 1 111060094 111060094 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005549.2 -1 reviewed p.T439I 1.000 123 0% 88 42% 0 - benign(0.303) deleterious(0.01) deleterious(0.500) HMMPfam_Ion_trans,superfamily_SSF81324 CHIA 27159 genome.wustl.edu 37 1 111860698 111860698 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000430615 +1 known p.R162Q 0.060 134 0.7% 52 36.5% 0 - - - - HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases RAP1A 5906 genome.wustl.edu 37 1 112238020 112238020 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010935.1 +1 reviewed p.S39P 1.000 274 0% 91 14.3% 43 2.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX20 11218 genome.wustl.edu 37 1 112308892 112308892 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007204.4 +1 reviewed p.Y616H 1.000 129 0% 67 44.8% 15 53.3% probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL SLC16A1 6566 genome.wustl.edu 37 1 113460301 113460301 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003051.3 -1 reviewed p.R243* 0.203 162 0% 106 30.2% 23 21.7% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter LRIG2 9860 genome.wustl.edu 37 1 113636151 113636151 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014813.1 +1 provisional p.K160N 1.000 224 0% 115 41.7% 2 100% probably_damaging(0.995) tolerated(0.23) deleterious(0.499) HMMPfam_LRR_1,superfamily_SSF52047 PHTF1 10745 genome.wustl.edu 37 1 114255905 114255905 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006608.2 -1 validated p.R260H 0.001 461 0.4% 232 40.9% 8 37.5% benign(0.003) tolerated(0.23) neutral(0.042) NULL RSBN1 54665 genome.wustl.edu 37 1 114309073 114309073 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018364.3 -1 validated p.C646 1.000 25 0% 20 40% 10 60% - - - NULL RSBN1 54665 genome.wustl.edu 37 1 114310956 114310956 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018364.3 -1 validated p.E572K 1.000 239 0% 134 47.8% 6 50% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL RSBN1 54665 genome.wustl.edu 37 1 114354442 114354442 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018364.3 -1 validated p.R198H 1.000 52 0% 54 53.7% 9 77.7% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL PTPN22 26191 genome.wustl.edu 37 1 114362221 114362221 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015967.4 -1 reviewed p.N779 0.987 324 0% 176 18.8% 0 - unknown(0) tolerated(0.2) - NULL PTPN22 26191 genome.wustl.edu 37 1 114372234 114372234 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015967.4 -1 reviewed p.K744Q 1.000 480 0% 242 43.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL HIPK1 204851 genome.wustl.edu 37 1 114483988 114483988 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198268.1 +1 reviewed p.R328H 1.000 76 0% 37 35.1% 21 38% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase OLFML3 56944 genome.wustl.edu 37 1 114523233 114523233 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020190.2 +1 validated p.V132M 0.003 85 0% 62 41.9% 2 0% benign(0.013) tolerated(0.12) neutral(0.261) HMMPfam_OLF TRIM33 51592 genome.wustl.edu 37 1 114945409 114945409 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000448034 -1 known p.R716H 0.998 133 0% 81 40.7% 13 53.8% - - - superfamily_Bromodomain TRIM33 51592 genome.wustl.edu 37 1 114964082 114964082 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000448034 -1 known p.R416H 0.185 345 0.3% 186 44.6% 11 36.3% - - - NULL BCAS2 10286 genome.wustl.edu 37 1 115112627 115112627 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005872.2 -1 validated p.R179 1.000 583 0% 229 10.5% 49 10.2% - - - HMMPfam_BCAS2 DENND2C 163259 genome.wustl.edu 37 1 115130550 115130550 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198459.3 -1 validated p.S762P 1.000 57 0% 47 36.2% 1 100% possibly_damaging(0.714) deleterious(0.04) deleterious(0.607) HMMPfam_dDENN,HMMSmart_dDENN DENND2C 163259 genome.wustl.edu 37 1 115144774 115144774 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198459.3 -1 validated p.R513Q 1.000 189 0% 77 32.5% 4 50% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_uDENN,HMMSmart_uDENN DENND2C 163259 genome.wustl.edu 37 1 115147641 115147641 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198459.3 -1 validated p.G466 1.000 344 0% 140 46.4% 1 0% - - - HMMPfam_uDENN,HMMSmart_uDENN DENND2C 163259 genome.wustl.edu 37 1 115168511 115168511 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198459.3 -1 validated p.A32V 0.993 298 0% 135 42.2% 0 - benign(0.001) tolerated(0.07) neutral(0.319) NULL AMPD1 270 genome.wustl.edu 37 1 115220020 115220020 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000036.2 -1 reviewed p.R447H 1.000 75 0% 62 37.1% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMPfam_A_deaminase,superfamily_SSF51556 AMPD1 270 genome.wustl.edu 37 1 115222998 115222998 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000036.2 -1 reviewed p.V217I 0.972 229 0% 121 11.6% 0 - benign(0) tolerated(0.2) neutral(0.049) NULL AMPD1 270 genome.wustl.edu 37 1 115226906 115226906 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000036.2 -1 reviewed p.S154L 1.000 223 0% 118 55.9% 0 - benign(0.004) deleterious(0.02) neutral(0.383) NULL CSDE1 7812 genome.wustl.edu 37 1 115276472 115276472 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130523.1 -1 validated p.E255* 1.000 358 0% 182 39% 84 9.5% - - - HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins CASQ2 845 genome.wustl.edu 37 1 116268160 116268160 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001232.3 -1 reviewed p.R251H 1.000 100 0% 47 21.3% 0 - probably_damaging(0.996) tolerated(0.11) deleterious(0.733) HMMPfam_Calsequestrin,superfamily_Thioredoxin-like SLC22A15 55356 genome.wustl.edu 37 1 116605463 116605463 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018420.2 +1 validated p.V418I 0.742 180 0% 79 46.8% 3 33.3% benign(0.001) tolerated(0.64) neutral(0.003) superfamily_MFS general substrate transporter ATP1A1 476 genome.wustl.edu 37 1 116935566 116935566 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000701.7 +1 reviewed p.A475T 0.013 113 0% 70 42.9% 462 43.5% benign(0) tolerated(0.13) neutral(0.253) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M IGSF3 3321 genome.wustl.edu 37 1 117156428 117156428 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001542.2 -1 validated p.R264Q 0.788 21 0% 25 52% 5 80% possibly_damaging(0.87) tolerated(0.53) neutral(0.346) HMMSmart_IG PTGFRN 5738 genome.wustl.edu 37 1 117491895 117491895 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020440.2 +1 provisional p.R305Q 0.832 13 0% 18 50% 69 44.9% probably_damaging(0.997) tolerated(0.23) deleterious(0.508) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PTGFRN 5738 genome.wustl.edu 37 1 117504095 117504095 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020440.2 +1 provisional p.R482W 0.999 89 0% 59 52.5% 65 53.8% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PTGFRN 5738 genome.wustl.edu 37 1 117527596 117527596 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020440.2 +1 provisional p.V821A 1.000 28 0% 22 40.9% 54 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409 PTGFRN 5738 genome.wustl.edu 37 1 117529454 117529454 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020440.2 +1 provisional p.I835 0.999 41 0% 32 43.8% 52 42.3% - - - NULL TTF2 8458 genome.wustl.edu 37 1 117605062 117605062 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003594.3 +1 reviewed p.G62D 0.999 322 0% 177 39% 7 28.5% probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL TTF2 8458 genome.wustl.edu 37 1 117631517 117631517 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003594.3 +1 reviewed p.A752D 0.999 98 0% 83 47% 13 76.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TTF2 8458 genome.wustl.edu 37 1 117633218 117633218 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003594.3 +1 reviewed p.V854A 0.958 418 0% 251 49% 9 44.4% probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL GDAP2 54834 genome.wustl.edu 37 1 118441777 118441777 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017686.3 -1 validated p.S233L 0.308 173 0% 95 38.9% 9 66.6% benign(0.156) deleterious(0.01) neutral(0.420) NULL WDR3 10885 genome.wustl.edu 37 1 118481174 118481174 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006784.2 +1 reviewed p.R191Q 1.000 285 0% 129 39.5% 17 35.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR3 10885 genome.wustl.edu 37 1 118492693 118492693 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006784.2 +1 reviewed p.K562 0.997 458 0% 190 46.3% 26 38.4% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR3 10885 genome.wustl.edu 37 1 118495253 118495253 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006784.2 +1 reviewed p.E707K 1.000 183 0% 70 35.7% 24 37.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_WD40 repeat-like WARS2 10352 genome.wustl.edu 37 1 119584944 119584944 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015836.3 -1 reviewed p.G153D 0.997 113 0% 69 58% 18 33.3% possibly_damaging(0.948) tolerated(0.22) neutral(0.433) HMMPfam_tRNA-synt_1b,superfamily_Nucleotidylyl transferase PHGDH 26227 genome.wustl.edu 37 1 120269483 120269483 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006623.3 +1 reviewed p.P122 0.998 32 0% 50 12% 231 1.7% - - - HMMPfam_2-Hacid_dh,HMMPfam_2-Hacid_dh_C,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like HMGCS2 3158 genome.wustl.edu 37 1 120298174 120298174 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005518.3 -1 reviewed p.A355T 1.000 304 0% 171 49.1% 2 0% benign(0.308) tolerated(0.5) neutral(0.106) HMMPfam_HMG_CoA_synt_C,superfamily_Thiolase-like NBPF7 343505 genome.wustl.edu 37 1 120379945 120379945 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001047980.1 -1 predicted p.A292 0.000 247 0.4% 143 44.1% 0 - - - - HMMPfam_DUF1220 ADAM30 11085 genome.wustl.edu 37 1 120437857 120437857 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021794.2 -1 reviewed p.T368N 0.000 79 0% 69 47.8% 0 - benign(0.004) deleterious(0.02) neutral(0.383) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" NOTCH2 4853 genome.wustl.edu 37 1 120491059 120491059 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024408.2 -1 reviewed p.E910D 0.991 39 0% 19 42.1% 12 33.3% benign(0.179) tolerated(0.51) neutral(0.026) NULL FAM72B 653820 genome.wustl.edu 37 1 120841983 120841983 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100910.1 +1 predicted p.D54G 1.000 885 0% 544 13.2% 13 23% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL PDE4DIP 9659 genome.wustl.edu 37 1 144854518 144854518 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014644.4 -1 validated p.L2318 0.403 311 0% 171 12.9% 3 0% - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144874794 144874794 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014644.4 -1 validated p.R1605H 0.999 114 0% 88 19.3% 3 0% unknown(0) tolerated(0.11) - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144922254 144922254 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014644.4 -1 validated p.E305A 1.000 510 0% 278 18% 15 0% probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL NOTCH2NL 388677 genome.wustl.edu 37 1 145281661 145281661 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203458.3 +1 validated p.C197 1.000 68 0% 54 13% 27 11.1% - - - HMMSmart_SM00181,superfamily_EGF/Laminin HFE2 148738 genome.wustl.edu 37 1 145416902 145416902 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213653.3 +1 reviewed p.S416Y 0.006 52 0% 57 36.8% 0 - possibly_damaging(0.85) deleterious(0.03) deleterious(0.692) HMMPfam_RGM_C ANKRD34A 284615 genome.wustl.edu 37 1 145473813 145473813 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039888.2 +1 validated p.S162Y 0.998 21 0% 15 40% 0 - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) superfamily_Ankyrin repeat PEX11B 8799 genome.wustl.edu 37 1 145522728 145522728 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003846.2 +1 validated p.L197M 0.969 45 0% 35 37.1% 29 44.8% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_PEX11 ANKRD35 148741 genome.wustl.edu 37 1 145558910 145558910 + Missense_Mutation SNP G G A rs186195553 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144698.3 +1 validated p.A177T 0.984 12 0% 12 33.3% 8 62.5% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK POLR3C 10623 genome.wustl.edu 37 1 145594076 145594076 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006468.6 -1 provisional p.R496C 0.998 255 0% 131 52.7% 29 48.2% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL POLR3C 10623 genome.wustl.edu 37 1 145598276 145598276 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006468.6 -1 provisional p.S326F 1.000 136 0% 67 38.8% 21 66.6% benign(0) tolerated(0.18) neutral(0.056) HMMPfam_RNA_pol_Rpc82 PDZK1 5174 genome.wustl.edu 37 1 145762204 145762204 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002614.3 +1 provisional p.D461N 0.198 350 0% 110 31.8% 0 - benign(0.025) deleterious(0.04) neutral(0.350) superfamily_PDZ BCL9 607 genome.wustl.edu 37 1 147091688 147091688 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004326.2 +1 reviewed p.P576L 1.000 47 0% 33 48.5% 13 61.5% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL ACP6 51205 genome.wustl.edu 37 1 147127350 147127350 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016361.3 -1 validated p.I191 1.000 80 0% 39 38.5% 9 44.4% - - - HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like GJA5 2702 genome.wustl.edu 37 1 147230623 147230623 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005266.5 -1 reviewed p.R242W 0.000 83 0% 69 36.2% 0 - possibly_damaging(0.598) deleterious(0.01) deleterious(0.613) NULL GJA8 2703 genome.wustl.edu 37 1 147380904 147380904 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005267.4 +1 reviewed p.I274 0.992 66 0% 57 22.8% 0 - - - - HMMPfam_Connexin50 NBPF14 25832 genome.wustl.edu 37 1 148025816 148025816 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015383.1 -1 predicted p.R6* 0.001 185 0% 73 19.2% 4 0% - - - NULL HIST2H3PS2 440686 genome.wustl.edu 37 1 149400221 149400221 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000369176 -1 known p.T108P 1.000 16 0% 21 52.4% 0 - possibly_damaging(0.632) - - HMMSmart_H3,HMMPfam_Histone,superfamily_Histone-fold HIST2H3PS2 440686 genome.wustl.edu 37 1 149400415 149400415 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000369176 -1 known p.R43Q 1.000 13 7.7% 13 30.8% 0 - probably_damaging(0.98) - - HMMSmart_H3,superfamily_Histone-fold FAM72C 554282 genome.wustl.edu 37 1 149459508 149459508 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000369175 -1 known p.F14 1.000 667 0% 282 40.1% 0 - possibly_damaging(0.805) deleterious(0.04) deleterious(0.652) NULL FCGR1A 2209 genome.wustl.edu 37 1 149760155 149760155 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000566.3 +1 reviewed p.I181L 0.010 329 0% 208 32.2% 2 0% benign(0.025) tolerated(0.14) neutral(0.251) HMMSmart_SM00409,superfamily_Immunoglobulin HIST2H2BF 440689 genome.wustl.edu 37 1 149783635 149783635 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000427880 -1 known p.A82T 1.000 111 0% 127 38.6% 17 29.4% possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold SV2A 9900 genome.wustl.edu 37 1 149879612 149879612 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014849.3 -1 validated p.G509V 1.000 150 0.7% 96 45.8% 1 0% benign(0.018) tolerated(0.11) neutral(0.272) HMMPfam_MFS_1 SV2A 9900 genome.wustl.edu 37 1 149884793 149884793 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014849.3 -1 validated p.S200 0.582 23 0% 25 56% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SV2A 9900 genome.wustl.edu 37 1 149885386 149885386 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014849.3 -1 validated p.E3* 1.000 22 0% 18 55.6% 0 - - - - NULL MTMR11 10903 genome.wustl.edu 37 1 149903307 149903307 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181873.3 -1 validated p.R307C 1.000 46 0% 33 45.5% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52799 VPS45 11311 genome.wustl.edu 37 1 150044263 150044263 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007259.3 +1 reviewed p.R87* 0.999 659 0.2% 366 39.3% 10 0% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins VPS45 11311 genome.wustl.edu 37 1 150048370 150048370 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007259.3 +1 reviewed p.E117K 1.000 220 0% 126 40.5% 8 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins VPS45 11311 genome.wustl.edu 37 1 150049247 150049247 + Missense_Mutation SNP T T C rs191692092 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007259.3 +1 reviewed p.C172R 1.000 182 0% 89 42.7% 22 4.5% benign(0.004) tolerated(0.79) neutral(0.001) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins CA14 23632 genome.wustl.edu 37 1 150233921 150233921 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012113.1 +1 reviewed p.P47L 1.000 62 0% 44 50% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ENSG00000238526 0 genome.wustl.edu 37 1 150234148 150234148 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000458929 +1 novel NULL 0.001 15 0% 18 50% 0 - - - - - C1orf51 148523 genome.wustl.edu 37 1 150256902 150256902 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144697.2 +1 predicted p.K170M 1.000 234 0% 166 52.4% 21 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RPRD2 23248 genome.wustl.edu 37 1 150443366 150443366 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015203.3 +1 validated p.I648F 0.997 109 0% 72 50% 17 52.9% benign(0.017) deleterious(0.01) neutral(0.406) NULL RPRD2 23248 genome.wustl.edu 37 1 150445232 150445232 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015203.3 +1 validated p.P1270S 1.000 45 0% 39 33.3% 41 36.5% possibly_damaging(0.894) deleterious(0) deleterious(0.796) NULL TARS2 80222 genome.wustl.edu 37 1 150461542 150461542 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025150.3 +1 provisional p.F122 0.952 125 0% 81 34.6% 12 50% - - - superfamily_TGS-like,superfamily_Thr/Ala-tRNA-synth_IIc_edit ENSA 2029 genome.wustl.edu 37 1 150599972 150599972 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207042.1 -1 reviewed p.D52N 1.000 100 0% 90 21.1% 81 9.8% benign(0.033) tolerated(0.05) neutral(0.347) HMMPfam_Endosulfine SETDB1 9869 genome.wustl.edu 37 1 150915098 150915098 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145415.1 +1 reviewed p.R203* 0.993 79 0% 49 46.9% 8 25% - - - NULL ANXA9 8416 genome.wustl.edu 37 1 150960612 150960612 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003568.2 +1 validated p.A248V 0.004 125 0% 99 50.5% 0 - benign(0.061) tolerated(0.14) neutral(0.254) superfamily_Annexin,HMMPfam_Annexin,HMMSmart_ANX PRUNE 58497 genome.wustl.edu 37 1 150998132 150998132 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021222.1 +1 provisional p.A221V 1.000 260 0% 129 43.4% 10 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DHHA2,superfamily_DHH phosphoesterases SCNM1 79005 genome.wustl.edu 37 1 151139599 151139599 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024041.2 +1 validated p.L72V 0.996 256 0% 169 40.2% 64 50% benign(0.099) deleterious(0.03) neutral(0.372) NULL PI4KB 5298 genome.wustl.edu 37 1 151271530 151271530 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002651.1 -1 provisional p.R602Q 1.000 64 0% 34 52.9% 41 17% possibly_damaging(0.827) tolerated(0.36) neutral(0.334) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) PI4KB 5298 genome.wustl.edu 37 1 151288273 151288273 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002651.1 -1 provisional p.R241* 1.000 61 0% 34 47.1% 34 14.7% - - - NULL PI4KB 5298 genome.wustl.edu 37 1 151288385 151288385 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002651.1 -1 provisional p.G203 0.860 40 0% 21 23.8% 35 11.4% - - - NULL RFX5 5993 genome.wustl.edu 37 1 151315145 151315145 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000449.3 -1 reviewed p.E456D 0.734 46 0% 35 31.4% 18 22.2% benign(0.001) tolerated(0.07) neutral(0.319) NULL PSMB4 5692 genome.wustl.edu 37 1 151372945 151372945 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002796.2 +1 reviewed p.G125 0.898 95 0% 75 48% 474 47.6% - - - HMMPfam_Proteasome,superfamily_SSF56235 POGZ 23126 genome.wustl.edu 37 1 151395901 151395901 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015100.2 -1 reviewed p.E550 1.000 159 0% 75 48% 19 52.6% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 POGZ 23126 genome.wustl.edu 37 1 151397476 151397476 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015100.2 -1 reviewed p.C380 1.000 111 0% 47 10.6% 16 6.2% - - - superfamily_C2H2 and C2HC zinc fingers CGN 57530 genome.wustl.edu 37 1 151498226 151498226 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020770.2 +1 validated p.F575L 1.000 88 0% 51 47.1% 10 40% possibly_damaging(0.495) tolerated(0.82) neutral(0.166) NULL CELF3 11189 genome.wustl.edu 37 1 151677565 151677565 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000420342 -1 known p.A451V 1.000 25 0% 25 28% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CELF3 11189 genome.wustl.edu 37 1 151678369 151678369 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007185.4 -1 reviewed p.F400C 1.000 112 0% 95 47.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD OAZ3 51686 genome.wustl.edu 37 1 151739265 151739265 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016178.2 +1 reviewed p.N23T 1.000 158 0% 106 43.4% 0 - possibly_damaging(0.643) deleterious(0) deleterious(0.670) NULL TDRKH 11022 genome.wustl.edu 37 1 151751698 151751698 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083963.1 -1 validated p.R148C 1.000 299 0.3% 157 42% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) LINGO4 339398 genome.wustl.edu 37 1 151773920 151773920 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004432.2 -1 provisional p.R421* 0.967 17 0% 13 38.5% 0 - - - - HMMPfam_I-set,superfamily_SSF48726 LINGO4 339398 genome.wustl.edu 37 1 151774896 151774896 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004432.2 -1 provisional p.Q95 1.000 19 0% 35 40% 2 100% - - - HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 TCHHL1 126637 genome.wustl.edu 37 1 152058065 152058065 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008536.1 -1 provisional p.E698G 0.000 365 0% 206 39.8% 0 - benign(0.04) tolerated(0.08) neutral(0.302) NULL RPTN 126638 genome.wustl.edu 37 1 152127512 152127512 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122965.1 -1 validated p.H688R 0.004 298 0% 197 43.1% 0 - probably_damaging(0.999) tolerated(0.43) deleterious(0.504) NULL HRNR 388697 genome.wustl.edu 37 1 152191188 152191188 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009931.1 -1 validated p.H973Y 0.000 136 0% 119 37% 0 - unknown(0) - - NULL HRNR 388697 genome.wustl.edu 37 1 152192427 152192427 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009931.1 -1 validated p.P560S 0.000 81 0% 87 36.8% 0 - unknown(0) - - NULL HRNR 388697 genome.wustl.edu 37 1 152193103 152193103 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009931.1 -1 validated p.S334 0.000 36 0% 35 45.7% 0 - - - - NULL FLG 2312 genome.wustl.edu 37 1 152275657 152275657 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002016.1 -1 reviewed p.P3902L 0.005 102 0% 63 41.3% 3 66.6% unknown(0) tolerated(0.07) - NULL FLG 2312 genome.wustl.edu 37 1 152275888 152275888 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002016.1 -1 reviewed p.H3825R 0.001 122 0% 94 33% 0 - possibly_damaging(0.873) tolerated(0.09) deleterious(0.635) HMMPfam_Filaggrin FLG 2312 genome.wustl.edu 37 1 152277644 152277644 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002016.1 -1 reviewed p.R3240C 0.001 125 0.8% 103 44.7% 2 0% unknown(0) tolerated(0.14) - NULL FLG 2312 genome.wustl.edu 37 1 152284104 152284104 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002016.1 -1 reviewed p.V1086 0.000 101 0% 99 39.4% 0 - - - - NULL FLG 2312 genome.wustl.edu 37 1 152285087 152285087 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002016.1 -1 reviewed p.T759A 0.000 128 0% 108 40.7% 0 - probably_damaging(0.972) tolerated(0.66) neutral(0.416) NULL FLG 2312 genome.wustl.edu 37 1 152285426 152285426 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002016.1 -1 reviewed p.H646N 0.000 214 0.5% 145 42.8% 1 100% possibly_damaging(0.943) tolerated(0.53) neutral(0.395) NULL FLG2 388698 genome.wustl.edu 37 1 152327668 152327668 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014342.2 -1 provisional p.S865L 0.018 123 0.8% 73 84.9% 0 - unknown(0) tolerated(0.67) - NULL FLG2 388698 genome.wustl.edu 37 1 152327998 152327998 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014342.2 -1 provisional p.S755F 0.002 219 0% 115 42.6% 0 - unknown(0) tolerated(0.06) - NULL FLG2 388698 genome.wustl.edu 37 1 152329039 152329039 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014342.2 -1 provisional p.S408Y 0.005 117 0% 67 50.7% 0 - unknown(0) tolerated(0.15) - NULL LCE3B 353143 genome.wustl.edu 37 1 152586479 152586479 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178433.1 +1 validated p.R65* 0.055 12 0% 22 95.5% 0 - - - - NULL LCE6A 448835 genome.wustl.edu 37 1 152816018 152816018 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128600.1 +1 validated p.S8T 0.001 160 0% 69 44.9% 0 - benign(0.053) - - NULL IVL 3713 genome.wustl.edu 37 1 152883915 152883915 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005547.2 +1 reviewed p.A548T 0.000 48 0% 41 12.2% 1 100% probably_damaging(0.98) deleterious(0.03) deleterious(0.788) NULL SPRR2G 6706 genome.wustl.edu 37 1 153122493 153122493 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014291.3 -1 validated p.C32R 0.004 80 0% 70 48.6% 0 - unknown(0) - - NULL S100A12 6283 genome.wustl.edu 37 1 153346500 153346500 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000368736 -1 known p.K52N 0.000 91 0% 63 38.1% 0 - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) superfamily_SSF47473 S100A5 6276 genome.wustl.edu 37 1 153509849 153509849 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002962.1 -1 reviewed p.D86N 1.000 79 0% 84 45.2% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) PatternScan_S100_CABP,PatternScan_EF_HAND_1,superfamily_SSF47473 S100A3 6274 genome.wustl.edu 37 1 153520312 153520312 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002960.1 -1 reviewed p.R51Q 0.003 98 0% 71 47.9% 6 16.6% possibly_damaging(0.793) tolerated(0.21) neutral(0.342) superfamily_SSF47473 SLC27A3 11000 genome.wustl.edu 37 1 153749015 153749015 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024330.1 +1 provisional p.P277L 0.990 18 0% 29 51.7% 15 66.6% probably_damaging(0.982) deleterious(0.03) deleterious(0.791) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like SLC27A3 11000 genome.wustl.edu 37 1 153750664 153750664 + Missense_Mutation SNP C C T rs148542939 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024330.1 +1 provisional p.R444W 0.999 15 0% 11 63.6% 37 43.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like GATAD2B 57459 genome.wustl.edu 37 1 153789957 153789957 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020699.2 -1 validated p.R264H 1.000 67 0% 60 36.7% 16 37.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ENSG00000234010 0 genome.wustl.edu 37 1 153896130 153896130 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000413970 +1 known NULL 0.001 33 0% 25 52% 1 0% - - - - ENSG00000234010 0 genome.wustl.edu 37 1 153896184 153896184 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000413970 +1 known NULL 0.001 42 0% 32 34.4% 1 100% - - - - DENND4B 9909 genome.wustl.edu 37 1 153903495 153903495 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014856.2 -1 validated p.R1348W 1.000 32 0% 29 55.2% 35 54.2% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) NULL DENND4B 9909 genome.wustl.edu 37 1 153905466 153905466 + Missense_Mutation SNP G G A rs1122186 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014856.2 -1 validated p.S1165L 1.000 22 0% 34 44.1% 24 41.6% probably_damaging(0.957) tolerated(0.22) neutral(0.443) NULL CRTC2 200186 genome.wustl.edu 37 1 153923928 153923928 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181715.1 -1 provisional p.S404 0.290 31 0% 33 30.3% 41 39% - - - NULL CREB3L4 148327 genome.wustl.edu 37 1 153945521 153945521 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130898.2 +1 provisional p.R237L 1.000 74 0% 66 47% 51 47% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BRLZ,superfamily_Euk_transcr_DNA,HMMPfam_bZIP_1 UBAP2L 9898 genome.wustl.edu 37 1 154229706 154229706 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000433615 +1 known p.D106N 0.123 131 0% 81 18.5% 158 8.2% - - - NULL UBAP2L 9898 genome.wustl.edu 37 1 154235616 154235616 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127320.1 +1 provisional p.T980 1.000 240 0% 135 13.3% 33 3% - - - NULL AQP10 89872 genome.wustl.edu 37 1 154295498 154295498 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080429.2 +1 reviewed p.I91 0.827 72 0% 60 48.3% 0 - - - - HMMPfam_MIP,superfamily_Aquaporin-like AQP10 89872 genome.wustl.edu 37 1 154296072 154296072 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080429.2 +1 reviewed p.G166D 1.000 49 0% 41 34.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MIP,superfamily_Aquaporin-like ATP8B2 57198 genome.wustl.edu 37 1 154317883 154317883 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020452.3 +1 reviewed p.F885 1.000 154 0% 105 21% 2 50% - - - superfamily_SSF56784,superfamily_SSF81665 ATP8B2 57198 genome.wustl.edu 37 1 154318754 154318754 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020452.3 +1 reviewed p.P975 0.297 41 0% 35 37.1% 11 27.2% - - - superfamily_SSF81665 TDRD10 126668 genome.wustl.edu 37 1 154479736 154479736 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098475.1 +1 validated p.P8S 0.003 127 0% 78 24.4% 0 - benign(0) - - NULL ADAR 103 genome.wustl.edu 37 1 154574188 154574188 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111.3 -1 reviewed p.V310 0.002 99 0% 83 43.4% 31 35.4% - - - "HMMPfam_z-alpha,HMMSmart_SM00550,superfamily_""Winged helix"" DNA-binding domain" PMVK 10654 genome.wustl.edu 37 1 154897659 154897659 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006556.3 -1 validated p.Q175H 0.031 74 0% 66 48.5% 90 38.8% benign(0) tolerated(0.15) neutral(0.241) superfamily_P-loop containing nucleoside triphosphate hydrolases PBXIP1 57326 genome.wustl.edu 37 1 154918280 154918280 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020524.2 -1 provisional p.A624T 0.967 21 0% 28 46.4% 55 38.1% possibly_damaging(0.433) tolerated(0.26) neutral(0.175) NULL PBXIP1 57326 genome.wustl.edu 37 1 154918947 154918947 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020524.2 -1 provisional p.Q401 1.000 22 0% 33 51.5% 30 56.6% - - - NULL PBXIP1 57326 genome.wustl.edu 37 1 154920468 154920468 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020524.2 -1 provisional p.E219D 0.440 42 0% 37 56.8% 23 56.5% benign(0) tolerated(0.49) neutral(0.011) NULL SHC1 6464 genome.wustl.edu 37 1 154938818 154938818 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130040.1 -1 validated p.P387S 0.715 32 0% 34 38.2% 36 47.2% benign(0) tolerated(0.96) - NULL ZBTB7B 51043 genome.wustl.edu 37 1 154988976 154988976 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015872.2 +1 validated p.A479T 0.586 21 0% 20 25% 46 34.7% benign(0.008) tolerated(0.69) neutral(0.002) NULL DCST1 149095 genome.wustl.edu 37 1 155011963 155011963 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152494.2 +1 validated p.G116D 1.000 42 0% 54 46.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DCST1 149095 genome.wustl.edu 37 1 155020362 155020362 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152494.2 +1 validated p.G571D 0.052 64 0% 78 17.9% 0 - possibly_damaging(0.465) tolerated(0.22) neutral(0.195) HMMPfam_DC_STAMP DCST1 149095 genome.wustl.edu 37 1 155020629 155020629 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152494.2 +1 validated p.R618* 0.000 52 0% 40 52.5% 0 - - - - NULL ADAM15 8751 genome.wustl.edu 37 1 155025094 155025094 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000485346 +1 known NULL 0.004 13 0% 14 71.4% 0 - - - - - THBS3 7059 genome.wustl.edu 37 1 155167413 155167413 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007112.3 -1 reviewed p.T780 0.999 71 0% 45 35.6% 9 11.1% - - - HMMPfam_TSP_C,superfamily_Concanavalin A-like lectins/glucanases THBS3 7059 genome.wustl.edu 37 1 155168004 155168004 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007112.3 -1 reviewed p.G694 0.979 35 0% 42 52.4% 10 40% - - - HMMPfam_TSP_3,superfamily_TSP type-3 repeat GBAP1 2630 genome.wustl.edu 37 1 155186235 155186235 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000368374 -1 known p.H191 0.000 69 0% 46 45.7% 14 21.4% - - - HMMPfam_Glyco_hydro_30,superfamily_(Trans)glycosidases FAM189B 10712 genome.wustl.edu 37 1 155217611 155217611 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006589.2 -1 validated p.L657I 1.000 11 0% 15 33.3% 25 48% possibly_damaging(0.806) deleterious(0) deleterious(0.748) NULL FAM189B 10712 genome.wustl.edu 37 1 155223524 155223524 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006589.2 -1 validated e5-1 1.000 50 0% 41 31.7% 0 - - - - - HCN3 57657 genome.wustl.edu 37 1 155252294 155252294 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020897.1 +1 validated p.P124L 1.000 54 0% 59 50.8% 5 40% benign(0) tolerated(0.72) neutral(0.002) HMMPfam_Ion_trans_N,superfamily_SSF81324 PKLR 5313 genome.wustl.edu 37 1 155263331 155263331 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000392414 -1 known p.A381V 0.538 35 0% 30 43.3% 0 - - - - HMMPfam_PK,superfamily_Phosphoenolpyruvate/pyruvate domain PKLR 5313 genome.wustl.edu 37 1 155271182 155271182 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000298.5 -1 reviewed p.S2L 0.899 99 0% 77 36.4% 0 - benign(0) deleterious(0) neutral(0.445) NULL ASH1L 55870 genome.wustl.edu 37 1 155448093 155448093 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018489.2 -1 reviewed p.A1523V 0.999 200 0% 92 43.5% 6 50% benign(0) tolerated(0.05) neutral(0.345) NULL ASH1L 55870 genome.wustl.edu 37 1 155450448 155450448 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018489.2 -1 reviewed p.R738I 1.000 209 0% 66 39.4% 6 33.3% possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL ASH1L 55870 genome.wustl.edu 37 1 155450884 155450884 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018489.2 -1 reviewed p.E593K 1.000 124 0% 49 46.9% 3 33.3% possibly_damaging(0.647) deleterious(0) deleterious(0.671) NULL ASH1L 55870 genome.wustl.edu 37 1 155451054 155451054 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018489.2 -1 reviewed p.G536D 1.000 272 0% 121 14% 6 16.6% possibly_damaging(0.612) deleterious(0.01) deleterious(0.618) NULL MSTO1 55154 genome.wustl.edu 37 1 155582701 155582701 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018116.2 +1 validated p.R345C 1.000 219 0% 173 49.1% 28 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tubulin nucleotide-binding domain-like YY1AP1 55249 genome.wustl.edu 37 1 155646354 155646354 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139118.1 -1 reviewed p.Q169H 1.000 257 0% 143 33.6% 33 36.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL GON4L 54856 genome.wustl.edu 37 1 155727017 155727017 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037533.1 -1 validated p.M1784T 1.000 71 0% 52 38.5% 15 60% benign(0.27) tolerated(0.1) neutral(0.316) NULL GON4L 54856 genome.wustl.edu 37 1 155742898 155742898 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037533.1 -1 validated p.K818N 0.994 193 0% 103 37.9% 12 41.6% benign(0.019) tolerated(0.61) neutral(0.005) NULL SYT11 23208 genome.wustl.edu 37 1 155838466 155838466 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152280.4 +1 reviewed p.F249V 1.000 47 0% 31 35.5% 2 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB KIAA0907 22889 genome.wustl.edu 37 1 155899515 155899515 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014949.2 -1 predicted p.Q124H 1.000 279 0% 155 43.9% 17 41.1% benign(0.091) tolerated(0.55) neutral(0.013) superfamily_Eukaryotic type KH-domain (KH-domain type I) RXFP4 339403 genome.wustl.edu 37 1 155912034 155912034 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181885.2 +1 validated p.V178 1.000 6 0.000 10 0.400 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ARHGEF2 9181 genome.wustl.edu 37 1 155920230 155920230 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004723.3 -1 validated p.R888H 0.998 24 0% 20 40% 24 50% probably_damaging(0.989) tolerated(0.15) deleterious(0.680) NULL UBQLN4 56893 genome.wustl.edu 37 1 156020912 156020912 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020131.3 -1 provisional p.A156V 0.997 19 0% 22 22.7% 32 21.8% unknown(0) tolerated(0.3) - NULL LMNA 4000 genome.wustl.edu 37 1 156104704 156104704 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170707.2 +1 reviewed p.A250T 1.000 25 0% 24 50% 173 46.2% benign(0.124) tolerated(0.28) neutral(0.042) HMMPfam_Filament BGLAP 632 genome.wustl.edu 37 1 156212601 156212601 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199173.3 +1 validated p.R51H 1.000 52 0% 71 11.3% 13 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00069 C1orf85 112770 genome.wustl.edu 37 1 156263901 156263901 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144580.1 -1 provisional p.L236M 1.000 17 0% 13 38.5% 45 40% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL C1orf85 112770 genome.wustl.edu 37 1 156264638 156264638 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144580.1 -1 provisional p.S97N 0.697 32 0% 17 35.3% 18 55.5% possibly_damaging(0.786) tolerated(0.26) neutral(0.329) NULL IQGAP3 128239 genome.wustl.edu 37 1 156498384 156498384 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178229.4 -1 validated p.K1530N 1.000 96 0% 55 32.7% 20 35% possibly_damaging(0.804) tolerated(0.06) deleterious(0.625) HMMPfam_RasGAP_C IQGAP3 128239 genome.wustl.edu 37 1 156513781 156513781 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178229.4 -1 validated p.R841M 1.000 60 0% 37 32.4% 15 40% possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMPfam_IQ,HMMSmart_IQ IQGAP3 128239 genome.wustl.edu 37 1 156520073 156520073 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178229.4 -1 validated p.D602G 1.000 42 0% 34 44.1% 16 25% possibly_damaging(0.594) tolerated(0.15) neutral(0.446) NULL TTC24 164118 genome.wustl.edu 37 1 156551248 156551248 + Missense_Mutation SNP G G A rs192869620 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000368237 +1 known p.R31Q 0.000 29 0% 25 48% 0 - benign(0.005) tolerated(0.27) neutral(0.034) superfamily_SSF48452 TTC24 164118 genome.wustl.edu 37 1 156551507 156551507 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000368237 +1 known p.G117 0.098 13 0% 10 40% 0 - - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 TTC24 164118 genome.wustl.edu 37 1 156555563 156555563 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000340086 +1 known p.R278H 0.001 66 0% 67 49.3% 0 - - - - NULL APOA1BP 128240 genome.wustl.edu 37 1 156563770 156563770 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144772.2 +1 reviewed p.R254H 1.000 60 0% 53 37.7% 141 34% possibly_damaging(0.672) deleterious(0) deleterious(0.682) superfamily_YjeF N-terminal domain-like BCAN 63827 genome.wustl.edu 37 1 156618552 156618552 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021948.3 +1 validated p.R321H 1.000 9 0.000 20 0.250 0 - possibly_damaging(0.676) deleterious(0.03) deleterious(0.605) HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like NES 10763 genome.wustl.edu 37 1 156639152 156639152 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006617.1 -1 reviewed p.E1610K 0.040 38 0% 25 40% 3 66.6% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL NES 10763 genome.wustl.edu 37 1 156641687 156641687 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006617.1 -1 reviewed p.R765* 0.000 253 0% 149 47.7% 3 0% - - - NULL ISG20L2 81875 genome.wustl.edu 37 1 156697336 156697336 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030980.1 -1 provisional p.R37W 0.987 34 0% 30 40% 22 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL INSRR 3645 genome.wustl.edu 37 1 156812979 156812979 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014215.1 -1 validated p.I981M 0.941 64 0% 54 38.9% 0 - benign(0.002) tolerated(0.49) neutral(0.011) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like NTRK1 4914 genome.wustl.edu 37 1 156834164 156834164 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002529.3 +1 reviewed p.Q77H 0.043 36 0% 43 37.2% 0 - benign(0.037) deleterious(0.02) neutral(0.385) superfamily_L domain-like NTRK1 4914 genome.wustl.edu 37 1 156849886 156849886 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002529.3 +1 reviewed p.G714 0.630 8 0.000 7 0.571 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PEAR1 375033 genome.wustl.edu 37 1 156883505 156883505 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080471.1 +1 provisional p.S889N 0.991 20 0% 30 40% 1 0% benign(0.244) deleterious(0.04) neutral(0.373) NULL LRRC71 149499 genome.wustl.edu 37 1 156899111 156899111 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144702.2 +1 validated p.E346K 0.178 105 0% 88 45.5% 0 - benign(0.071) tolerated(0.15) neutral(0.246) superfamily_RNI-like ARHGEF11 9826 genome.wustl.edu 37 1 156925503 156925503 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198236.1 -1 reviewed p.S587Y 0.998 362 0.3% 230 50.9% 11 45.4% possibly_damaging(0.605) deleterious(0) deleterious(0.654) NULL ARHGEF11 9826 genome.wustl.edu 37 1 156948167 156948167 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198236.1 -1 reviewed p.A113 1.000 97 0% 63 52.4% 15 26.6% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ ETV3L 440695 genome.wustl.edu 37 1 157062754 157062754 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004341.2 -1 validated p.E258G 0.637 12 0% 15 26.7% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL FCRL4 83417 genome.wustl.edu 37 1 157557348 157557348 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031282.2 -1 reviewed p.L189I 0.949 108 0% 38 39.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Immunoglobulin FCRL3 115352 genome.wustl.edu 37 1 157659643 157659643 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052939.3 -1 reviewed p.L585 0.000 82 0% 58 43.1% 0 - - - - NULL CD1D 912 genome.wustl.edu 37 1 158150895 158150895 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001766.3 +1 reviewed p.G2R 0.000 7 0.000 8 0.625 0 - benign(0.052) tolerated(0.89) neutral(0.003) NULL CD1D 912 genome.wustl.edu 37 1 158151449 158151449 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001766.3 +1 reviewed p.R89Q 0.000 17 0% 29 55.2% 1 0% benign(0.071) tolerated(0.47) neutral(0.016) HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog CD1C 911 genome.wustl.edu 37 1 158260938 158260938 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001765.2 +1 reviewed p.V26I 0.000 59 0% 43 44.2% 0 - benign(0.001) tolerated(1) - superfamily_MHC_I/II-like_Ag-recog OR10K2 391107 genome.wustl.edu 37 1 158389825 158389825 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004476.1 -1 provisional p.Y278H 0.626 209 0% 52 50% 0 - benign(0.052) deleterious(0) neutral(0.448) HMMPfam_7tm_1,superfamily_SSF81321 OR6Y1 391112 genome.wustl.edu 37 1 158517052 158517052 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005189.1 -1 provisional p.L282F 0.944 231 0% 87 34.5% 0 - possibly_damaging(0.631) tolerated(0.75) neutral(0.222) HMMPfam_7tm_1,superfamily_SSF81321 OR10Z1 128368 genome.wustl.edu 37 1 158576679 158576679 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004478.1 +1 provisional p.T151A 0.002 143 0% 37 21.6% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158587840 158587840 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003126.2 -1 reviewed p.Y2179 0.997 153 0% 47 44.7% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158590251 158590251 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003126.2 -1 reviewed p.E2042D 1.000 73 0% 30 33.3% 0 - possibly_damaging(0.903) tolerated(0.22) neutral(0.400) superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158631155 158631155 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003126.2 -1 reviewed p.V837F 1.000 392 0.3% 261 39.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR6K6 128371 genome.wustl.edu 37 1 158724754 158724754 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005184.1 +1 provisional p.R50I 0.204 240 0% 130 47.7% 0 - benign(0.008) tolerated(0.1) neutral(0.286) superfamily_Family A G protein-coupled receptor-like OR6N2 81442 genome.wustl.edu 37 1 158747105 158747105 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005278.1 -1 provisional p.L107 0.344 84 0% 55 41.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6N2 81442 genome.wustl.edu 37 1 158747277 158747277 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005278.1 -1 provisional p.R50Q 0.000 42 0% 25 44% 0 - probably_damaging(0.99) tolerated(0.4) neutral(0.458) HMMPfam_7tm_1,superfamily_SSF81321 PYHIN1 149628 genome.wustl.edu 37 1 158908914 158908914 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152501.3 +1 validated p.S152 0.000 97 0% 75 48% 1 0% - - - NULL PYHIN1 149628 genome.wustl.edu 37 1 158911911 158911911 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152501.3 +1 validated p.T242A 1.000 132 0% 57 43.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HIN PYHIN1 149628 genome.wustl.edu 37 1 158911976 158911976 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152501.3 +1 validated p.F263L 0.002 109 0% 45 46.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HIN AIM2 9447 genome.wustl.edu 37 1 159033350 159033350 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004833.1 -1 reviewed p.R311* 0.002 515 0% 285 41.8% 0 - - - - HMMPfam_HIN CADM3 57863 genome.wustl.edu 37 1 159162383 159162383 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021189.3 +1 validated p.R116Q 1.000 123 0% 82 31.7% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 DARC 2532 genome.wustl.edu 37 1 159175324 159175324 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122951.1 +1 reviewed p.V34A 0.000 81 0% 60 45% 1 0% benign(0) tolerated(0.4) neutral(0.016) NULL DARC 2532 genome.wustl.edu 37 1 159175868 159175868 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122951.1 +1 reviewed p.A215 0.387 54 0% 50 20% 6 0% - - - NULL OR10J1 26476 genome.wustl.edu 37 1 159336155 159336155 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000328408 +1 known p.S69P 0.001 14 0% 15 46.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10J1 26476 genome.wustl.edu 37 1 159410073 159410073 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012351.2 +1 validated p.F175 0.043 142 0% 90 42.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like VSIG8 391123 genome.wustl.edu 37 1 159824795 159824795 + Silent SNP C C T rs142265803 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013661.1 -1 provisional p.G331 0.998 3 0.000 11 0.364 0 - - - - NULL CCDC19 25790 genome.wustl.edu 37 1 159846490 159846490 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012337.2 -1 validated p.R403H 1.000 110 0% 77 42.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC19 25790 genome.wustl.edu 37 1 159854247 159854247 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012337.2 -1 validated p.Q292 1.000 196 0% 116 50% 0 - - - - NULL CCDC19 25790 genome.wustl.edu 37 1 159863009 159863009 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012337.2 -1 validated p.V30 0.954 83 0% 50 30% 1 0% - - - NULL CCDC19 25790 genome.wustl.edu 37 1 159863074 159863074 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012337.2 -1 validated p.L9M 0.140 72 0% 52 42.3% 0 - benign(0.174) tolerated(0.41) neutral(0.031) NULL IGSF9 57549 genome.wustl.edu 37 1 159901045 159901045 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135050.1 -1 validated p.S507N 1.000 29 0% 26 46.2% 17 52.9% possibly_damaging(0.94) deleterious(0.02) deleterious(0.768) NULL SLAMF9 89886 genome.wustl.edu 37 1 159923255 159923255 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033438.3 -1 reviewed p.N79D 0.000 142 0% 105 39% 0 - benign(0.044) tolerated(0.75) neutral(0.004) superfamily_Immunoglobulin KCNJ10 3766 genome.wustl.edu 37 1 160011249 160011249 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002241.3 -1 reviewed p.E358D 1.000 88 0% 54 42.6% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_IRK ATP1A2 477 genome.wustl.edu 37 1 160094133 160094133 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000702.3 +1 reviewed p.E181D 1.000 108 0% 65 43.1% 1 0% benign(0.011) tolerated(0.16) neutral(0.060) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 ATP1A2 477 genome.wustl.edu 37 1 160100313 160100313 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000702.3 +1 reviewed p.L585F 1.000 51 0% 47 40.4% 0 - benign(0.291) deleterious(0.02) deleterious(0.473) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP1A4 480 genome.wustl.edu 37 1 160134168 160134168 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144699.3 +1 reviewed p.G334D 1.000 187 0% 139 38.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M CASQ1 844 genome.wustl.edu 37 1 160162630 160162630 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001231.4 +1 reviewed p.F100 0.974 120 0% 87 57.5% 1 0% - - - HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd PEX19 5824 genome.wustl.edu 37 1 160254895 160254895 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002857.3 -1 reviewed p.G7D 0.000 42 0% 33 45.5% 12 41.6% benign(0.001) tolerated(0.77) neutral(0.001) NULL COPA 1314 genome.wustl.edu 37 1 160260410 160260410 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098398.1 -1 reviewed p.H1172Y 1.000 74 0% 67 41.8% 247 40% benign(0.266) tolerated(1) neutral(0.028) HMMPfam_COPI_C COPA 1314 genome.wustl.edu 37 1 160275322 160275322 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098398.1 -1 reviewed p.N532T 1.000 106 0% 74 13.5% 137 10.2% benign(0) tolerated(1) - HMMPfam_Coatomer_WDAD NCSTN 23385 genome.wustl.edu 37 1 160321124 160321124 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015331.2 +1 reviewed p.R232Q 1.000 51 0% 16 43.8% 55 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NHLH1 4807 genome.wustl.edu 37 1 160340807 160340807 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005598.3 +1 validated p.A96T 1.000 31 0% 22 45.5% 0 - probably_damaging(0.965) tolerated(0.23) neutral(0.448) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain LOC100287088 100287088 genome.wustl.edu 37 1 160389262 160389262 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342147.1 -1 model p.R45* 0.257 46 0% 33 36.4% 21 47.6% - - - NULL ITLN2 142683 genome.wustl.edu 37 1 160922440 160922440 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080878.2 -1 validated p.E55* 1.000 230 0% 146 43.8% 0 - - - - superfamily_Fibrinogen C-terminal domain-like USF1 7391 genome.wustl.edu 37 1 161012364 161012364 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007122.3 -1 reviewed p.R52Q 1.000 26 0% 31 41.9% 33 48.4% probably_damaging(0.958) deleterious(0.02) deleterious(0.784) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161022121 161022121 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001025598.1 -1 validated p.A325T 1.000 63 0% 81 40.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161023138 161023138 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001025598.1 -1 validated p.A192S 1.000 48 0% 45 31.1% 3 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMSmart_SM00324,superfamily_GTPase activation domain GAP KLHDC9 126823 genome.wustl.edu 37 1 161069916 161069916 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152366.4 +1 validated p.R318C 0.987 88 0% 73 41.1% 16 50% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_Galactose oxidase central domain DEDD 9191 genome.wustl.edu 37 1 161093690 161093690 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039711.1 -1 reviewed p.R124 1.000 178 0.6% 128 46.1% 25 52% - - - NULL USP21 27005 genome.wustl.edu 37 1 161130906 161130906 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014443.2 +1 reviewed p.R159H 0.999 17 0% 24 58.3% 31 38.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL B4GALT3 8703 genome.wustl.edu 37 1 161141721 161141721 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003779.2 -1 reviewed p.R356H 0.924 68 0% 39 43.6% 50 28% possibly_damaging(0.438) tolerated(0.1) neutral(0.429) NULL B4GALT3 8703 genome.wustl.edu 37 1 161143648 161143648 + Splice_Site SNP C C T rs111476933 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003779.2 -1 reviewed e3+1 1.000 107 0% 78 42.3% 9 100% - - - - ADAMTS4 9507 genome.wustl.edu 37 1 161166070 161166070 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005099.4 -1 reviewed p.C327 0.989 48 0% 55 41.8% 6 0% - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS4 9507 genome.wustl.edu 37 1 161166529 161166529 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005099.4 -1 reviewed p.R259C 1.000 49 0% 43 51.2% 10 0% benign(0.018) deleterious(0.01) neutral(0.406) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" TOMM40L 84134 genome.wustl.edu 37 1 161196690 161196690 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032174.4 +1 validated p.A43V 0.926 213 0% 104 41.3% 5 20% benign(0) tolerated(0.89) - HMMPfam_Porin_3 MPZ 4359 genome.wustl.edu 37 1 161276519 161276519 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000530.6 -1 reviewed p.T153A 1.000 140 0.7% 102 47.1% 1 0% possibly_damaging(0.49) deleterious(0.03) deleterious(0.527) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SDHC 6391 genome.wustl.edu 37 1 161332315 161332315 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035511.1 +1 reviewed p.F146L 0.001 453 0% 227 22.9% 107 44.8% benign(0.017) - - NULL FCGR2A 2212 genome.wustl.edu 37 1 161479740 161479740 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136219.1 +1 reviewed p.F165L 0.005 168 0% 88 51.1% 8 0% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ATF6 22926 genome.wustl.edu 37 1 161761276 161761276 + Missense_Mutation SNP G G T rs2070150 byCluster;byFrequency;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007348.2 +1 validated p.A145S 0.972 450 0.2% 166 45.8% 2 0% benign(0) tolerated(0.19) neutral(0.050) NULL ATF6 22926 genome.wustl.edu 37 1 161771972 161771972 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007348.2 +1 validated p.V273 0.004 100 0% 56 50% 9 11.1% - - - NULL ATF6 22926 genome.wustl.edu 37 1 161789498 161789498 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007348.2 +1 validated p.E329* 1.000 139 0% 59 49.2% 10 0% - - - HMMSmart_BRLZ,HMMPfam_bZIP_1 OLFML2B 25903 genome.wustl.edu 37 1 161989912 161989912 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015441.1 -1 provisional p.C79R 1.000 42 0% 35 34.3% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DDR2 4921 genome.wustl.edu 37 1 162737043 162737043 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014796.1 +1 reviewed p.S396I 1.000 145 0.7% 59 39% 4 0% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL DDR2 4921 genome.wustl.edu 37 1 162740096 162740096 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014796.1 +1 reviewed p.S433Y 1.000 62 0% 44 45.5% 3 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RGS5 8490 genome.wustl.edu 37 1 163131754 163131754 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003617.3 -1 validated p.D56 0.229 66 0% 35 54.3% 38 44.7% - - - superfamily_Regulator of G-protein signaling RGS PBX1 5087 genome.wustl.edu 37 1 164768975 164768975 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002585.2 +1 validated p.R184* 1.000 18 0% 17 47.1% 19 5.2% - - - HMMPfam_PBC PBX1 5087 genome.wustl.edu 37 1 164789393 164789393 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002585.2 +1 validated p.A361V 1.000 101 0% 68 44.1% 9 33.3% benign(0.058) tolerated(0.07) neutral(0.323) NULL RXRG 6258 genome.wustl.edu 37 1 165406407 165406407 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009598.1 -1 reviewed p.L27 0.111 136 0% 81 48.1% 0 - - - - NULL LRRC52 440699 genome.wustl.edu 37 1 165532950 165532950 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005214.3 +1 validated p.R277 0.651 30 0% 21 52.4% 0 - - - - NULL POGK 57645 genome.wustl.edu 37 1 166810319 166810319 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017542.3 +1 reviewed p.G42 0.233 39 0% 42 23.8% 18 11.1% - - - superfamily_KRAB domain (Kruppel-associated box Pfam 01352) POGK 57645 genome.wustl.edu 37 1 166818510 166818510 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017542.3 +1 reviewed p.R232* 0.189 11 0% 18 55.6% 21 47.6% - - - HMMPfam_BrkDBD POGK 57645 genome.wustl.edu 37 1 166819432 166819432 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017542.3 +1 reviewed p.A539V 0.843 27 0% 21 57.1% 38 50% probably_damaging(0.98) tolerated(0.34) neutral(0.447) HMMPfam_DDE MAEL 84944 genome.wustl.edu 37 1 166974629 166974629 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032858.1 +1 validated p.N280 1.000 200 0% 71 35.2% 1 0% - - - NULL DUSP27 92235 genome.wustl.edu 37 1 167064093 167064093 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080426.1 +1 provisional p.T3A 0.971 39 0% 33 36.4% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL DUSP27 92235 genome.wustl.edu 37 1 167095439 167095439 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080426.1 +1 provisional p.G357 0.562 20 0% 28 60.7% 0 - - - - NULL POU2F1 5451 genome.wustl.edu 37 1 167382294 167382294 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002697.2 +1 provisional p.L622M 1.000 80 0% 42 14.3% 5 0% unknown(0) deleterious(0) - NULL RCSD1 92241 genome.wustl.edu 37 1 167663456 167663456 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052862.3 +1 validated p.R131* 0.001 33 0% 26 46.2% 3 0% - - - NULL RCSD1 92241 genome.wustl.edu 37 1 167666876 167666876 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052862.3 +1 validated p.L339M 0.001 30 0% 23 39.1% 2 0% benign(0.057) tolerated(0.13) neutral(0.256) NULL ADCY10 55811 genome.wustl.edu 37 1 167849796 167849796 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018417.4 -1 reviewed p.E358K 0.845 121 0% 62 43.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain TBX19 9095 genome.wustl.edu 37 1 168250431 168250431 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005149.2 +1 reviewed p.D35N 1.000 49 2% 23 39.1% 3 0% possibly_damaging(0.929) deleterious(0.03) deleterious(0.740) NULL TBX19 9095 genome.wustl.edu 37 1 168260493 168260493 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005149.2 +1 reviewed p.R100H 1.000 11 0% 12 33.3% 3 33.3% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd TBX19 9095 genome.wustl.edu 37 1 168260558 168260558 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005149.2 +1 reviewed p.V122I 1.000 18 0% 22 40.9% 8 25% benign(0.018) tolerated(0.1) neutral(0.287) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd TBX19 9095 genome.wustl.edu 37 1 168274422 168274422 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005149.2 +1 reviewed p.H302N 0.998 49 2% 45 53.3% 1 100% possibly_damaging(0.807) tolerated(0.82) neutral(0.304) NULL TBX19 9095 genome.wustl.edu 37 1 168282031 168282031 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005149.2 +1 reviewed p.A380T 0.009 25 0% 26 26.9% 3 0% benign(0) tolerated(0.45) neutral(0.012) NULL XCL1 6375 genome.wustl.edu 37 1 168550443 168550443 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002995.1 +1 provisional p.V110 0.001 317 0% 138 19.6% 6 16.6% - - - superfamily_Chemokine_IL8 SLC19A2 10560 genome.wustl.edu 37 1 169437456 169437456 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006996.2 -1 reviewed p.Y420H 1.000 62 0% 38 39.5% 16 43.7% probably_damaging(1) tolerated(0.15) deleterious(0.741) PatternScan_G_PROTEIN_RECEP_F1_1,HMMPfam_Folate_carrier,superfamily_MFS general substrate transporter F5 2153 genome.wustl.edu 37 1 169484809 169484809 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000130.4 -1 reviewed p.T2134M 0.999 154 0.6% 43 55.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,superfamily_Galactose-binding domain-like C1orf112 55732 genome.wustl.edu 37 1 169775211 169775211 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018186.2 +1 predicted p.T182I 1.000 569 0% 243 44.9% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C1orf112 55732 genome.wustl.edu 37 1 169798423 169798423 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018186.2 +1 predicted p.V383I 0.987 423 0% 143 42% 3 66.6% benign(0) tolerated(0.57) neutral(0.006) NULL C1orf112 55732 genome.wustl.edu 37 1 169818643 169818643 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018186.2 +1 predicted p.D687 0.983 204 0% 96 39.6% 6 33.3% - - - NULL C1orf112 55732 genome.wustl.edu 37 1 169818721 169818721 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018186.2 +1 predicted p.L713F 1.000 215 0% 84 42.9% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIFAP3 22920 genome.wustl.edu 37 1 169961361 169961361 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014970.2 -1 reviewed p.L407I 1.000 389 0% 95 48.4% 23 47.8% possibly_damaging(0.91) deleterious(0.01) deleterious(0.768) HMMSmart_SM00185,HMMPfam_KAP,superfamily_ARM repeat METTL11B 149281 genome.wustl.edu 37 1 170115396 170115396 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136107.1 +1 validated p.P50T 1.000 239 0.4% 104 12.5% 1 0% benign(0.23) deleterious(0.01) neutral(0.429) superfamily_SSF53335 PRRX1 5396 genome.wustl.edu 37 1 170695471 170695471 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022716.2 +1 reviewed p.E176D 1.000 34 0% 25 44% 17 47% probably_damaging(0.971) deleterious(0.03) deleterious(0.777) NULL C1orf129 80133 genome.wustl.edu 37 1 170928657 170928657 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025063.2 +1 validated p.S69 0.744 455 0% 247 45.7% 0 - - - - NULL C1orf129 80133 genome.wustl.edu 37 1 170934338 170934338 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025063.2 +1 validated p.R141I 0.001 199 0% 64 34.4% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL LOC646804 646804 genome.wustl.edu 37 1 171052746 171052746 + Silent SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_929761.3 +1 model p.V38 0.801 108 0% 49 16.3% 0 - - - - NULL FMO2 2327 genome.wustl.edu 37 1 171174718 171174718 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001460.2 +1 reviewed p.G376 0.861 78 0% 19 52.6% 14 85.7% - - - HMMPfam_FMO-like FMO1 2326 genome.wustl.edu 37 1 171250083 171250083 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002021.1 +1 reviewed p.N262 0.998 147 0% 42 42.9% 1 0% - - - HMMPfam_FMO-like,superfamily_NAD(P)-binding Rossmann-fold domains PRRC2C 23215 genome.wustl.edu 37 1 171510660 171510660 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015172.3 +1 validated p.R1350H 1.000 33 0% 20 30% 21 14.2% unknown(0) - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171511177 171511177 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015172.3 +1 validated p.Q1522H 0.918 109 0% 54 44.4% 26 57.6% unknown(0) - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171556853 171556853 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015172.3 +1 validated p.A2677T 0.096 163 0% 85 38.8% 37 32.4% benign(0.031) - - NULL MYOC 4653 genome.wustl.edu 37 1 171605378 171605378 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000261.1 -1 reviewed p.I401T 1.000 114 0% 68 29.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OLF,HMMSmart_SM00284 METTL13 51603 genome.wustl.edu 37 1 171761223 171761223 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015935.4 +1 validated p.H514R 1.000 90 0% 54 40.7% 23 30.4% benign(0.326) tolerated(0.35) neutral(0.122) superfamily_S-adenosyl-L-methionine-dependent methyltransferases PIGC 5279 genome.wustl.edu 37 1 172411180 172411180 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002642.3 -1 reviewed p.R195W 1.000 62 0% 37 45.9% 32 53.1% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMPfam_GPI2 FASLG 356 genome.wustl.edu 37 1 172628574 172628574 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000639.1 +1 reviewed p.S78I 0.524 98 0% 103 14.6% 0 - benign(0.029) deleterious(0) neutral(0.446) NULL SLC9A11 284525 genome.wustl.edu 37 1 173523948 173523948 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178527.3 -1 validated p.I407M 0.291 254 0.4% 87 31% 0 - benign(0.291) tolerated(0.09) neutral(0.386) HMMPfam_Na_H_Exchanger DARS2 55157 genome.wustl.edu 37 1 173803639 173803639 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018122.4 +1 reviewed p.L215 0.956 439 0% 208 20.7% 11 18.1% - - - HMMPfam_tRNA-synt_2,superfamily_SSF55681 SERPINC1 462 genome.wustl.edu 37 1 173883970 173883970 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000488.3 -1 reviewed p.K43N 1.000 49 0% 40 17.5% 0 - unknown(0) deleterious(0) - superfamily_Prot_inh_serpin RC3H1 149041 genome.wustl.edu 37 1 173930905 173930905 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172071.2 -1 validated p.P720 0.999 272 0% 153 11.8% 8 37.5% - - - NULL RC3H1 149041 genome.wustl.edu 37 1 173952657 173952657 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172071.2 -1 validated p.R164Q 1.000 106 0% 71 47.9% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TNN 63923 genome.wustl.edu 37 1 175067519 175067519 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022093.1 +1 validated p.A636D 0.751 83 0% 70 47.1% 0 - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PAPPA2 60676 genome.wustl.edu 37 1 176564029 176564029 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020318.2 +1 validated p.S430L 0.001 39 0% 32 43.8% 1 0% possibly_damaging(0.926) tolerated(0.07) deleterious(0.694) HMMSmart_SM00560,superfamily_Concanavalin A-like lectins/glucanases PAPPA2 60676 genome.wustl.edu 37 1 176708761 176708761 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020318.2 +1 validated e12-1 1.000 103 0% 19 42.1% 0 - - - - - PAPPA2 60676 genome.wustl.edu 37 1 176738812 176738812 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020318.2 +1 validated p.G1465S 0.967 168 0% 78 39.7% 0 - possibly_damaging(0.728) tolerated(0.06) deleterious(0.588) HMMSmart_SM00032,superfamily_Complement control module/SCR domain ASTN1 460 genome.wustl.edu 37 1 176852085 176852085 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004319.1 -1 validated p.S1091F 1.000 108 0% 61 59% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_FN3,superfamily_FN_III-like FAM5B 57795 genome.wustl.edu 37 1 177242630 177242630 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021165.2 +1 provisional p.E226K 1.000 129 0% 42 52.4% 0 - benign(0.032) deleterious(0.02) neutral(0.385) HMMSmart_SM00457 RASAL2 9462 genome.wustl.edu 37 1 178427157 178427157 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000433130 +1 known p.L320I 1.000 69 0% 47 42.6% 7 28.5% - - - NULL RASAL2 9462 genome.wustl.edu 37 1 178442259 178442259 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170692.2 +1 reviewed p.A1232V 1.000 70 0% 62 38.7% 12 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C1orf49 84066 genome.wustl.edu 37 1 178489920 178489920 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032126.4 +1 validated p.A152S 0.000 33 0% 26 34.6% 0 - benign(0.079) tolerated(0.06) neutral(0.328) NULL ANGPTL1 9068 genome.wustl.edu 37 1 178822767 178822767 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004673.3 -1 reviewed p.G327S 1.000 161 0% 69 27.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C ANGPTL1 9068 genome.wustl.edu 37 1 178834562 178834562 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004673.3 -1 reviewed p.K117R 1.000 224 0% 116 50% 0 - probably_damaging(0.999) tolerated(0.46) deleterious(0.502) NULL FAM20B 9917 genome.wustl.edu 37 1 179013026 179013026 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014864.3 +1 validated p.V15A 1.000 153 0% 98 51% 11 81.8% benign(0.079) deleterious(0.03) neutral(0.370) NULL FAM20B 9917 genome.wustl.edu 37 1 179023737 179023737 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014864.3 +1 validated p.A180T 1.000 151 0% 78 14.1% 14 35.7% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL ABL2 27 genome.wustl.edu 37 1 179112088 179112088 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005158.4 -1 reviewed p.S31F 0.000 94 0% 69 55.1% 0 - benign(0.076) deleterious(0) neutral(0.450) NULL AXDND1 126859 genome.wustl.edu 37 1 179460848 179460848 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144696.4 +1 validated p.Y756C 0.006 147 0% 81 33.3% 0 - unknown(0) tolerated(0.19) - NULL TOR1AIP1 26092 genome.wustl.edu 37 1 179886640 179886640 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015602.2 +1 validated p.L340 0.014 190 0% 67 44.8% 16 37.5% - - - HMMPfam_LAP1C CEP350 9857 genome.wustl.edu 37 1 179965735 179965735 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014810.4 +1 reviewed p.S148L 0.998 121 0% 58 50% 1 0% benign(0.002) deleterious(0.03) neutral(0.364) NULL CEP350 9857 genome.wustl.edu 37 1 179981097 179981097 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014810.4 +1 reviewed p.R427Q 1.000 130 0% 61 39.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP350 9857 genome.wustl.edu 37 1 179989939 179989939 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014810.4 +1 reviewed p.E1010D 0.983 88 0% 43 51.2% 1 0% benign(0.418) tolerated(0.4) neutral(0.152) NULL CEP350 9857 genome.wustl.edu 37 1 180010297 180010297 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014810.4 +1 reviewed p.D1379Y 1.000 116 0% 57 31.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LHX4 89884 genome.wustl.edu 37 1 180243631 180243631 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033343.2 +1 reviewed p.S364P 1.000 56 0% 30 53.3% 2 50% possibly_damaging(0.476) tolerated(0.05) deleterious(0.502) NULL XPR1 9213 genome.wustl.edu 37 1 180756935 180756935 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004736.3 +1 validated p.E56D 1.000 342 0% 105 54.3% 32 40.6% possibly_damaging(0.894) deleterious(0) deleterious(0.796) HMMPfam_SPX CACNA1E 777 genome.wustl.edu 37 1 181686301 181686301 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000721.2 +1 reviewed p.R463M 0.999 84 0% 61 45.9% 0 - possibly_damaging(0.806) deleterious(0) deleterious(0.748) superfamily_Voltage-gated potassium channels RNASEL 6041 genome.wustl.edu 37 1 182553226 182553226 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021133.2 -1 reviewed p.R519K 0.000 275 0% 97 34% 1 100% benign(0.002) tolerated(0.42) neutral(0.014) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) NPL 80896 genome.wustl.edu 37 1 182787787 182787787 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030769.1 +1 provisional p.R190H 0.713 90 0% 45 60% 0 - benign(0.003) tolerated(0.14) neutral(0.249) HMMPfam_DHDPS,superfamily_Aldolase NPL 80896 genome.wustl.edu 37 1 182791308 182791308 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030769.1 +1 provisional p.D238N 0.998 540 0% 230 38.7% 0 - possibly_damaging(0.712) tolerated(0.21) neutral(0.301) HMMPfam_DHDPS,superfamily_Aldolase DHX9 1660 genome.wustl.edu 37 1 182821399 182821399 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001357.4 +1 reviewed p.P95H 0.966 115 0% 63 46% 39 35.8% benign(0.11) tolerated(0.16) neutral(0.068) NULL SHCBP1L 81626 genome.wustl.edu 37 1 182908447 182908447 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030933.2 -1 validated p.R314C 1.000 251 0.4% 136 43.4% 0 - probably_damaging(0.999) tolerated(0.15) deleterious(0.732) NULL LAMC1 3915 genome.wustl.edu 37 1 183079782 183079782 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002293.3 +1 reviewed p.E338 0.984 94 0% 63 39.7% 56 8.9% - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_SSF57196 LAMC1 3915 genome.wustl.edu 37 1 183101588 183101588 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002293.3 +1 reviewed p.T1207M 1.000 279 0% 123 45.5% 119 45.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LAMC1 3915 genome.wustl.edu 37 1 183104222 183104222 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002293.3 +1 reviewed p.A1349T 1.000 61 0% 57 56.1% 81 60.4% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL LAMC2 3918 genome.wustl.edu 37 1 183201845 183201845 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005562.2 +1 reviewed p.Y691 0.904 79 0% 38 36.8% 20 50% - - - NULL NMNAT2 23057 genome.wustl.edu 37 1 183261986 183261986 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015039.2 -1 reviewed p.V61M 1.000 21 0% 23 52.2% 2 100% possibly_damaging(0.757) deleterious(0.01) deleterious(0.685) HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase SMG7 9887 genome.wustl.edu 37 1 183514220 183514220 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173156.2 +1 validated p.H715Y 1.000 119 0% 70 38.6% 35 48.5% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SMG7 9887 genome.wustl.edu 37 1 183514352 183514352 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000515829 +1 known p.A461V 0.998 189 0% 89 48.3% 27 33.3% - - - NULL NCF2 4688 genome.wustl.edu 37 1 183534884 183534884 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000433.3 -1 reviewed p.A319S 0.999 40 0% 21 23.8% 3 0% benign(0.309) tolerated(0.7) neutral(0.099) superfamily_SH3 NCF2 4688 genome.wustl.edu 37 1 183543658 183543658 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000433.3 -1 reviewed p.R155 0.994 270 0% 155 47.7% 4 0% - - - superfamily_SSF48452 RGL1 23179 genome.wustl.edu 37 1 183711363 183711363 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015149.3 +1 validated p.S24N 0.560 153 0% 47 38.3% 0 - benign(0) tolerated(0.4) neutral(0.016) NULL FAM129A 116496 genome.wustl.edu 37 1 184772792 184772792 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052966.2 -1 validated p.K494T 0.995 281 0% 148 39.2% 10 10% benign(0.397) deleterious(0.05) deleterious(0.473) NULL TRMT1L 81627 genome.wustl.edu 37 1 185114649 185114649 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030934.4 -1 reviewed p.I193L 1.000 447 0% 151 11.3% 7 14.2% probably_damaging(0.971) deleterious(0) deleterious(0.857) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 IVNS1ABP 10625 genome.wustl.edu 37 1 185267381 185267381 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006469.4 -1 validated p.A572V 1.000 192 0% 57 36.8% 173 41% benign(0.032) tolerated(0.1) neutral(0.288) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain IVNS1ABP 10625 genome.wustl.edu 37 1 185276739 185276739 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006469.4 -1 validated p.R138Q 1.000 216 0% 73 58.9% 60 38.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_BACK HMCN1 83872 genome.wustl.edu 37 1 185976350 185976350 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031935.2 +1 reviewed p.R1522 1.000 198 0% 68 47.1% 1 100% - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185985096 185985096 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031935.2 +1 reviewed p.P1639L 1.000 83 0% 30 53.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_I-set HMCN1 83872 genome.wustl.edu 37 1 185988735 185988735 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031935.2 +1 reviewed p.A1845T 1.000 96 0% 42 47.6% 2 50% benign(0) tolerated(1) - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186017961 186017961 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031935.2 +1 reviewed p.V2189 1.000 265 0% 56 32.1% 1 0% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186037119 186037119 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031935.2 +1 reviewed p.R2620Q 0.024 237 0% 77 44.2% 1 0% benign(0.022) tolerated(0.61) neutral(0.005) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186043908 186043908 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031935.2 +1 reviewed p.A2725 0.978 235 0% 61 41% 3 33.3% - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186089254 186089254 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031935.2 +1 reviewed p.G4069D 1.000 89 0% 38 44.7% 3 33.3% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186114998 186114998 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031935.2 +1 reviewed p.R4851C 0.997 39 0% 18 27.8% 6 16.6% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat TPR 7175 genome.wustl.edu 37 1 186312593 186312593 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003292.2 -1 reviewed p.R1205 1.000 234 0% 106 52.8% 14 35.7% - - - HMMPfam_TPR_MLP1_2 TPR 7175 genome.wustl.edu 37 1 186326532 186326532 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003292.2 -1 reviewed p.S574F 0.998 355 0% 122 36.1% 16 31.2% probably_damaging(0.961) tolerated(0.06) deleterious(0.727) NULL TPR 7175 genome.wustl.edu 37 1 186329129 186329129 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003292.2 -1 reviewed e12-1 1.000 263 0% 101 50.5% 0 - - - - - PTGS2 5743 genome.wustl.edu 37 1 186643703 186643703 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000963.2 -1 reviewed p.P533S 1.000 143 0% 93 41.9% 3 100% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases PLA2G4A 5321 genome.wustl.edu 37 1 186908254 186908254 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024420.2 +1 reviewed p.Q270 1.000 360 0% 140 46.4% 1 0% - - - HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like FAM5C 339479 genome.wustl.edu 37 1 190067703 190067703 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199051.1 -1 provisional p.E582 1.000 117 0% 121 66.1% 0 - - - - NULL RGS18 64407 genome.wustl.edu 37 1 192127819 192127819 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130782.2 +1 reviewed p.E18* 1.000 209 0% 95 34.7% 0 - - - - NULL RGS1 5996 genome.wustl.edu 37 1 192544938 192544938 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002922.3 +1 reviewed p.I6V 0.673 108 0% 42 35.7% 9 0% benign(0.034) deleterious(0) neutral(0.447) NULL RGS13 6003 genome.wustl.edu 37 1 192613507 192613507 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002927.3 +1 reviewed p.E15* 0.037 377 0% 172 30.8% 0 - - - - NULL RGS13 6003 genome.wustl.edu 37 1 192627455 192627455 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002927.3 +1 reviewed p.K84N 1.000 173 0% 82 31.7% 0 - benign(0.09) tolerated(0.13) neutral(0.259) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam UCHL5 51377 genome.wustl.edu 37 1 193018894 193018894 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015984.2 -1 validated p.T76 0.129 107 0.9% 82 26.8% 27 37% - - - HMMPfam_Peptidase_C12,superfamily_Cysteine proteinases B3GALT2 8707 genome.wustl.edu 37 1 193149624 193149624 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003783.3 -1 reviewed p.P357S 1.000 159 0% 101 18.8% 0 - possibly_damaging(0.744) tolerated(0.29) neutral(0.302) HMMPfam_Galactosyl_T KCNT2 343450 genome.wustl.edu 37 1 196459012 196459012 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198503.2 -1 validated p.Y77* 1.000 457 0.4% 180 28.3% 0 - - - - NULL CFH 3075 genome.wustl.edu 37 1 196645184 196645184 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000186.3 +1 reviewed p.P139H 0.979 487 0% 238 28.2% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFH 3075 genome.wustl.edu 37 1 196646629 196646629 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000186.3 +1 reviewed p.A151T 0.003 246 0% 87 28.7% 9 22.2% benign(0.002) tolerated(0.46) neutral(0.012) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFH 3075 genome.wustl.edu 37 1 196712687 196712687 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000186.3 +1 reviewed p.P1080L 0.003 585 0.2% 453 25.4% 8 12.5% benign(0.004) tolerated(0.43) neutral(0.013) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain F13B 2165 genome.wustl.edu 37 1 197009796 197009796 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001994.2 -1 reviewed p.R603I 0.990 330 0% 141 31.9% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197062190 197062190 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018136.4 -1 reviewed p.R3096* 1.000 169 0% 50 14% 7 0% - - - HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197062287 197062287 + Silent SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018136.4 -1 reviewed p.I3063 0.028 181 0% 46 34.8% 15 53.3% - - - HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197071194 197071194 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018136.4 -1 reviewed p.R2396M 0.925 208 0% 52 38.5% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197072058 197072058 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018136.4 -1 reviewed p.R2108K 0.697 201 0.5% 65 12.3% 11 36.3% benign(0.002) tolerated(0.72) neutral(0.002) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197073484 197073484 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018136.4 -1 reviewed p.R1633C 0.129 232 0% 77 13% 4 25% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197086988 197086988 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018136.4 -1 reviewed p.Q1332 0.881 642 0% 216 30.6% 4 50% - - - HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197102522 197102522 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018136.4 -1 reviewed p.R793W 0.533 291 0% 170 52.9% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Calponin-homology domain CH-domain ASPM 259266 genome.wustl.edu 37 1 197111545 197111545 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018136.4 -1 reviewed p.A613T 0.003 622 0% 501 26.1% 5 0% benign(0) tolerated(1) - NULL ASPM 259266 genome.wustl.edu 37 1 197112654 197112654 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018136.4 -1 reviewed p.R243Q 0.000 215 0% 157 34.4% 4 25% benign(0.038) tolerated(0.16) neutral(0.061) NULL ZBTB41 360023 genome.wustl.edu 37 1 197128828 197128828 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194314.2 -1 validated p.T797 0.032 355 0.8% 228 26.8% 5 60% - - - NULL ZBTB41 360023 genome.wustl.edu 37 1 197168985 197168985 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194314.2 -1 validated p.H207N 1.000 145 0% 109 23.9% 2 50% possibly_damaging(0.494) deleterious(0) deleterious(0.609) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CRB1 23418 genome.wustl.edu 37 1 197297597 197297597 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201253.1 +1 reviewed p.C39Y 1.000 188 0% 110 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00181,superfamily_EGF/Laminin CRB1 23418 genome.wustl.edu 37 1 197390141 197390141 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201253.1 +1 reviewed p.E395K 1.000 216 0% 130 26.9% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin CRB1 23418 genome.wustl.edu 37 1 197404469 197404469 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201253.1 +1 reviewed p.S1159N 0.198 121 0% 54 51.9% 0 - benign(0.01) tolerated(1) neutral(0.001) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin DENND1B 163486 genome.wustl.edu 37 1 197643297 197643297 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142795.1 -1 validated p.E43D 1.000 211 0% 78 32.1% 3 100% possibly_damaging(0.919) tolerated(0.15) deleterious(0.611) HMMPfam_uDENN,HMMSmart_SM00800 DENND1B 163486 genome.wustl.edu 37 1 197742058 197742058 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142795.1 -1 validated p.N8H 1.000 247 0% 185 62.7% 1 100% benign(0.322) tolerated(0.09) neutral(0.397) NULL LHX9 56956 genome.wustl.edu 37 1 197890485 197890485 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020204.2 +1 reviewed p.S143 0.004 16 0% 28 25% 2 0% - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PTPRC 5788 genome.wustl.edu 37 1 198691593 198691593 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002838.3 +1 reviewed p.H568N 0.000 476 0% 174 58% 2 0% benign(0.001) tolerated(0.34) neutral(0.023) superfamily_Fibronectin type III PTPRC 5788 genome.wustl.edu 37 1 198721462 198721462 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002838.3 +1 reviewed p.T1096S 0.001 248 0% 71 31% 11 0% benign(0.002) tolerated(0.67) neutral(0.003) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRC 5788 genome.wustl.edu 37 1 198723414 198723414 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002838.3 +1 reviewed p.T1174A 1.000 331 0% 92 35.9% 6 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II NR5A2 2494 genome.wustl.edu 37 1 200014674 200014674 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_205860.1 +1 validated p.R142H 1.000 283 0% 197 27.9% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ZNF281 23528 genome.wustl.edu 37 1 200378251 200378251 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012482.3 -1 provisional p.V195I 0.650 87 0% 91 37.4% 7 42.8% benign(0.038) tolerated(0.15) neutral(0.243) NULL KIF14 9928 genome.wustl.edu 37 1 200573037 200573037 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014875.2 -1 validated p.R598Q 1.000 374 0% 214 58.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SSF52540 KIF14 9928 genome.wustl.edu 37 1 200587073 200587073 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014875.2 -1 validated p.G260E 0.875 526 0% 412 26.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DDX59 83479 genome.wustl.edu 37 1 200618320 200618320 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031725.4 -1 validated p.F450S 1.000 360 0% 262 61.1% 11 72.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX59 83479 genome.wustl.edu 37 1 200635471 200635471 + Missense_Mutation SNP G G A rs186153048 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031725.4 -1 validated p.A133V 1.000 152 0% 104 30.8% 20 15% possibly_damaging(0.932) deleterious(0.01) deleterious(0.784) HMMPfam_zf-HIT,superfamily_P-loop containing nucleoside triphosphate hydrolases CAMSAP2 23271 genome.wustl.edu 37 1 200811203 200811203 + Missense_Mutation SNP C C T rs188044529 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203459.1 +1 validated p.R337C 0.001 648 0% 463 63.9% 21 66.6% possibly_damaging(0.946) deleterious(0.03) deleterious(0.754) NULL C1orf106 55765 genome.wustl.edu 37 1 200860791 200860791 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018265.2 +1 validated p.A41 0.558 9 0.000 26 0.462 2 0% - - - NULL CACNA1S 779 genome.wustl.edu 37 1 201012450 201012450 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000069.2 -1 reviewed p.A1669 0.625 103 0% 126 13.5% 0 - - - - NULL CACNA1S 779 genome.wustl.edu 37 1 201013539 201013539 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000069.2 -1 reviewed p.R1572C 1.000 42 0% 46 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CACNA1S 779 genome.wustl.edu 37 1 201030395 201030395 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000069.2 -1 reviewed p.Q1085 1.000 136 0% 160 25.6% 0 - - - - NULL CACNA1S 779 genome.wustl.edu 37 1 201030577 201030577 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000069.2 -1 reviewed p.D1025Y 1.000 182 0% 185 64.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201058412 201058412 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000069.2 -1 reviewed p.E292K 1.000 22 0% 41 14.6% 0 - possibly_damaging(0.866) deleterious(0) deleterious(0.780) HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201058451 201058451 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000069.2 -1 reviewed p.G279S 1.000 30 0% 50 38% 0 - possibly_damaging(0.927) tolerated(0.4) neutral(0.391) HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201060804 201060804 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000069.2 -1 reviewed p.G220C 1.000 58 0% 69 29% 0 - benign(0.037) tolerated(0.06) neutral(0.325) HMMPfam_Ion_trans,superfamily_SSF81324 IGFN1 91156 genome.wustl.edu 37 1 201174264 201174264 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000451870 +1 known p.G324D 0.000 13 0% 20 45% 0 - benign(0.311) tolerated(0.81) neutral(0.098) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin IGFN1 91156 genome.wustl.edu 37 1 201186579 201186579 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000451870 +1 known p.P797S 0.986 14 0% 26 42.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III IGFN1 91156 genome.wustl.edu 37 1 201193940 201193940 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000451870 +1 known p.T1018N 0.840 45 0% 66 33.3% 0 - probably_damaging(0.974) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PKP1 5317 genome.wustl.edu 37 1 201282591 201282591 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000299.2 +1 reviewed p.R202C 0.825 26 0% 32 43.8% 17 35.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PKP1 5317 genome.wustl.edu 37 1 201285794 201285794 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000299.2 +1 reviewed p.T272I 1.000 29 0% 36 33.3% 29 31% benign(0.174) tolerated(0.16) neutral(0.075) superfamily_ARM repeat TNNT2 7139 genome.wustl.edu 37 1 201331132 201331132 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000364.2 -1 reviewed p.K207E 1.000 29 0% 45 24.4% 2 0% possibly_damaging(0.762) deleterious(0.01) deleterious(0.688) HMMPfam_Troponin LAD1 3898 genome.wustl.edu 37 1 201355856 201355856 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005558.3 -1 reviewed p.K211N 0.000 121 0% 130 32.3% 15 20% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL NAV1 89796 genome.wustl.edu 37 1 201750232 201750232 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000430015 +1 known p.R44* 1.000 142 0% 99 39.4% 1 0% - - - NULL NAV1 89796 genome.wustl.edu 37 1 201752815 201752815 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020443.4 +1 reviewed p.G880D 1.000 36 0% 41 29.3% 4 50% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL IPO9 55705 genome.wustl.edu 37 1 201835970 201835970 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018085.4 +1 validated p.L580F 1.000 95 0% 82 23.2% 56 32.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_ARM repeat IPO9 55705 genome.wustl.edu 37 1 201845174 201845174 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018085.4 +1 validated p.G1040S 1.000 105 1% 88 39.8% 87 24.1% benign(0.024) deleterious(0.04) neutral(0.350) NULL SHISA4 149345 genome.wustl.edu 37 1 201860588 201860588 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198149.2 +1 validated p.P147S 1.000 55 0% 85 29.4% 36 22.2% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL RNPEP 6051 genome.wustl.edu 37 1 201958566 201958566 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020216.3 +1 validated p.P215Q 0.052 187 0% 163 31.9% 30 0% benign(0.273) tolerated(0.27) neutral(0.062) HMMPfam_Peptidase_M1,superfamily_SSF63737 RNPEP 6051 genome.wustl.edu 37 1 201965369 201965369 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020216.3 +1 validated p.F278V 1.000 434 0% 324 11.1% 58 3.4% benign(0.418) tolerated(1) neutral(0.136) HMMPfam_Peptidase_M1,superfamily_SSF55486 RNPEP 6051 genome.wustl.edu 37 1 201966519 201966519 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020216.3 +1 validated p.T309 0.849 45 0% 77 11.7% 66 25.7% - - - HMMPfam_Peptidase_M1,superfamily_SSF55486 RNPEP 6051 genome.wustl.edu 37 1 201972379 201972379 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020216.3 +1 validated p.R481* 0.694 43 0% 62 21% 39 0% - - - superfamily_SSF55486 GPR37L1 9283 genome.wustl.edu 37 1 202097062 202097062 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004767.3 +1 validated p.E275A 1.000 13 0% 28 35.7% 1 100% benign(0.01) tolerated(0.14) neutral(0.250) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR37L1 9283 genome.wustl.edu 37 1 202097160 202097160 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004767.3 +1 validated p.A308T 1.000 27 0% 40 32.5% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LGR6 59352 genome.wustl.edu 37 1 202279404 202279404 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017403.1 +1 reviewed p.E496* 0.994 44 0% 37 21.6% 6 0% - - - superfamily_RNI-like LGR6 59352 genome.wustl.edu 37 1 202287843 202287843 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017403.1 +1 reviewed p.T804 0.993 21 0% 40 42.5% 27 59.2% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPP1R12B 4660 genome.wustl.edu 37 1 202399930 202399930 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032105.2 +1 reviewed p.F331L 1.000 320 0% 248 28.6% 1 0% benign(0) tolerated(0.73) neutral(0.002) NULL PPP1R12B 4660 genome.wustl.edu 37 1 202409887 202409887 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032105.2 +1 reviewed p.S504 0.704 297 0% 245 31.4% 2 0% - - - NULL KDM5B 10765 genome.wustl.edu 37 1 202698925 202698925 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006618.3 -1 validated p.P1469 1.000 218 0% 168 11.9% 140 12.1% - - - NULL KDM5B 10765 genome.wustl.edu 37 1 202701051 202701051 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006618.3 -1 validated p.G1309D 0.983 191 0% 116 31% 171 30.4% benign(0.431) tolerated(0.15) neutral(0.382) NULL KDM5B 10765 genome.wustl.edu 37 1 202702732 202702732 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006618.3 -1 validated p.L1236F 1.000 61 0% 51 29.4% 94 26.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FYVE/PHD zinc finger KDM5B 10765 genome.wustl.edu 37 1 202710847 202710847 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006618.3 -1 validated p.L865I 1.000 67 0% 47 34% 101 36.6% probably_damaging(0.999) tolerated(0.31) deleterious(0.517) HMMPfam_PLU-1 KDM5B 10765 genome.wustl.edu 37 1 202722096 202722096 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006618.3 -1 validated p.P546 0.000 178 0% 110 34.5% 55 40% - - - HMMSmart_SM00558,HMMPfam_JmjC KDM5B 10765 genome.wustl.edu 37 1 202736068 202736068 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006618.3 -1 validated p.R233C 1.000 218 0% 154 27.9% 40 22.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDM5B 10765 genome.wustl.edu 37 1 202746214 202746214 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006618.3 -1 validated p.Q71 1.000 240 0% 168 35.1% 35 37.1% - - - HMMSmart_SM00545 ADIPOR1 51094 genome.wustl.edu 37 1 202915676 202915676 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127687.1 -1 validated p.N107 0.990 97 0% 114 33.3% 179 25.6% - - - NULL ADIPOR1 51094 genome.wustl.edu 37 1 202915727 202915727 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127687.1 -1 validated p.G90 0.098 75 1.3% 82 35.4% 144 30.5% - - - NULL PPFIA4 8497 genome.wustl.edu 37 1 203013082 203013082 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000367238 +1 known p.C120 1.000 6 0.000 7 0.571 6 33.3% - - - NULL PPFIA4 8497 genome.wustl.edu 37 1 203033112 203033112 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015053.1 +1 validated p.M505L 1.000 16 0% 17 29.4% 9 11.1% benign(0.109) deleterious(0.01) neutral(0.414) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain LOC100289552 100289552 genome.wustl.edu 37 1 203098119 203098119 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342158.1 -1 model p.R241* 0.026 21 0% 35 40% 1 0% - - - NULL CHIT1 1118 genome.wustl.edu 37 1 203186879 203186879 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003465.2 -1 reviewed p.R382W 0.009 45 0% 64 21.9% 1 0% possibly_damaging(0.925) deleterious(0) deleterious(0.818) superfamily_(Trans)glycosidases ATP2B4 493 genome.wustl.edu 37 1 203667386 203667386 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001684.3 +1 reviewed p.E99* 1.000 158 0% 108 27.8% 40 2.5% - - - HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M ATP2B4 493 genome.wustl.edu 37 1 203678544 203678544 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001684.3 +1 reviewed p.P558H 1.000 33 0% 37 35.1% 52 38.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP2B4 493 genome.wustl.edu 37 1 203690443 203690443 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001684.3 +1 reviewed p.G906V 1.000 104 0% 82 18.3% 65 52.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M REN 5972 genome.wustl.edu 37 1 204130473 204130473 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000537.3 -1 reviewed p.S107L 1.000 33 0% 40 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Asp,PatternScan_ASP_PROTEASE,superfamily_Acid proteases PPP1R15B 84919 genome.wustl.edu 37 1 204375384 204375384 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032833.3 -1 validated p.G660R 1.000 241 0% 214 25.7% 48 35.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PP1c_bdg NFASC 23114 genome.wustl.edu 37 1 204937425 204937425 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015090.3 +1 reviewed p.T263I 0.243 46 0% 58 22.4% 1 0% benign(0.321) deleterious(0.05) neutral(0.446) HMMPfam_I-set,superfamily_SSF48726 CNTN2 6900 genome.wustl.edu 37 1 205030460 205030460 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005076.2 +1 reviewed p.S295 0.745 26 0% 26 53.8% 0 - - - - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 CNTN2 6900 genome.wustl.edu 37 1 205039655 205039655 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005076.2 +1 reviewed p.L845 1.000 28 0% 29 58.6% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like RBBP5 5929 genome.wustl.edu 37 1 205057915 205057915 + Nonstop_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005057.2 -1 reviewed p.*539C 1.000 227 0% 125 16% 13 7.6% - - - NULL RBBP5 5929 genome.wustl.edu 37 1 205073134 205073134 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005057.2 -1 reviewed p.V125M 1.000 132 0% 88 29.5% 27 25.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_WD40 repeat-like TMCC2 9911 genome.wustl.edu 37 1 205241027 205241027 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014858.3 +1 validated p.E635 1.000 14 0% 24 41.7% 1 0% - - - HMMPfam_Tmemb_cc2 TMCC2 9911 genome.wustl.edu 37 1 205241065 205241065 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014858.3 +1 validated p.N648S 1.000 28 0% 25 20% 0 - probably_damaging(0.969) deleterious(0.01) deleterious(0.817) HMMPfam_Tmemb_cc2 CDK18 5129 genome.wustl.edu 37 1 205493455 205493455 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000437052 +1 known p.A144T 0.143 23 0% 26 23.1% 31 35.4% - - - NULL CDK18 5129 genome.wustl.edu 37 1 205499800 205499800 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_212503.2 +1 validated p.P483T 1.000 38 0% 60 11.7% 55 5.4% benign(0.103) deleterious(0.02) neutral(0.391) superfamily_Kinase_like MFSD4 148808 genome.wustl.edu 37 1 205553091 205553091 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181644.4 +1 validated p.V233 1.000 24 0% 31 22.6% 16 43.7% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC45A3 85414 genome.wustl.edu 37 1 205628362 205628362 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033102.2 -1 validated p.*554 0.007 13 0% 13 46.2% 0 - - - - NULL SLC45A3 85414 genome.wustl.edu 37 1 205628566 205628566 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033102.2 -1 validated p.R486 0.999 11 0% 20 40% 2 0% - - - NULL SLC45A3 85414 genome.wustl.edu 37 1 205632052 205632052 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033102.2 -1 validated p.T289 0.796 14 0% 13 30.8% 7 57.1% - - - superfamily_MFS general substrate transporter SLC26A9 115019 genome.wustl.edu 37 1 205889332 205889332 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_134325.2 -1 reviewed p.G694 0.018 307 0.3% 291 14.1% 0 - - - - HMMPfam_STAS,superfamily_STAS AVPR1B 553 genome.wustl.edu 37 1 206224656 206224656 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000707.3 +1 reviewed p.F72 1.000 9 0.000 20 0.550 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like C1orf186 440712 genome.wustl.edu 37 1 206243161 206243161 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000331555 -1 known p.S34N 0.996 45 0% 43 20.9% 67 26.8% benign(0.34) tolerated(0.22) neutral(0.149) NULL CTSE 1510 genome.wustl.edu 37 1 206318357 206318357 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001910.2 +1 reviewed p.R39W 0.000 52 0% 52 28.8% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_Pept_Aspartic,HMMPfam_A1_Propeptide SRGAP2 23380 genome.wustl.edu 37 1 206557431 206557431 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015326.2 +1 validated p.R77Q 1.000 244 0% 159 15.7% 13 7.6% - - - NULL SRGAP2 23380 genome.wustl.edu 37 1 206566908 206566908 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015326.2 +1 validated p.K151N 1.000 141 0% 100 21% 18 22.2% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL SRGAP2 23380 genome.wustl.edu 37 1 206567013 206567013 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000414359 +1 known p.L195I 1.000 176 0% 114 20.2% 24 8.3% probably_damaging(0.974) tolerated(0.21) neutral(0.460) NULL SRGAP2 23380 genome.wustl.edu 37 1 206574930 206574930 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000414359 +1 known p.R251C 1.000 177 0% 150 13.3% 24 8.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PIGR 5284 genome.wustl.edu 37 1 207104894 207104894 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002644.3 -1 reviewed p.V716A 0.000 458 0% 493 32% 61 26.2% benign(0.003) tolerated(0.62) neutral(0.004) NULL PIGR 5284 genome.wustl.edu 37 1 207105846 207105846 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002644.3 -1 reviewed p.A655S 0.004 18 0% 28 25% 69 33.3% possibly_damaging(0.907) deleterious(0.02) deleterious(0.744) NULL PIGR 5284 genome.wustl.edu 37 1 207112735 207112735 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002644.3 -1 reviewed p.T39 0.123 69 0% 93 37.6% 56 30.3% - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 FCAMR 83953 genome.wustl.edu 37 1 207133945 207133945 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000324852 -1 known p.W426R 0.665 68 0% 80 18.8% 0 - possibly_damaging(0.649) deleterious(0) deleterious(0.672) NULL FCAMR 83953 genome.wustl.edu 37 1 207139063 207139063 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122979.2 -1 validated p.A104T 0.000 20 0% 25 36% 0 - possibly_damaging(0.677) tolerated(0.15) deleterious(0.482) NULL C1orf116 79098 genome.wustl.edu 37 1 207196104 207196104 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023938.5 -1 validated p.L335 0.000 58 0% 85 24.7% 4 25% - - - NULL C4BPA 722 genome.wustl.edu 37 1 207287557 207287557 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000715.3 +1 reviewed p.Y85 0.011 112 0% 63 22.2% 1 100% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain C4BPA 722 genome.wustl.edu 37 1 207314569 207314569 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000715.3 +1 reviewed p.A464 0.000 176 0.6% 115 59.1% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR2 1380 genome.wustl.edu 37 1 207648363 207648363 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006658.2 +1 reviewed p.R840* 0.001 116 0% 75 14.7% 2 0% - - - NULL CR1 1378 genome.wustl.edu 37 1 207793410 207793410 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000651.4 +1 reviewed p.R2418C 0.011 114 0% 82 28% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CR1 1378 genome.wustl.edu 37 1 207796352 207796352 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000651.4 +1 reviewed p.T2431A 0.000 952 0.1% 491 26.1% 1 0% benign(0.013) tolerated(0.66) neutral(0.003) NULL CR1L 1379 genome.wustl.edu 37 1 207857226 207857226 + Silent SNP C C A rs183127040 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175710.1 +1 validated p.L129 0.590 565 0.2% 270 33.7% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain LOC100286909 100286909 genome.wustl.edu 37 1 207975364 207975364 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342181.1 -1 model p.S69L 0.000 9 0.000 13 0.308 1 0% - - - NULL CD34 947 genome.wustl.edu 37 1 208072456 208072456 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001025109.1 -1 validated p.N126 0.000 240 0% 220 32.7% 13 0% - - - NULL PLXNA2 5362 genome.wustl.edu 37 1 208212212 208212212 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025179.3 -1 reviewed p.V1540M 1.000 107 0% 109 29.4% 21 28.5% benign(0.003) tolerated(0.13) neutral(0.253) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA2 5362 genome.wustl.edu 37 1 208212233 208212233 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025179.3 -1 reviewed p.L1533I 1.000 129 0% 121 36.4% 20 40% probably_damaging(0.972) deleterious(0) deleterious(0.859) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA2 5362 genome.wustl.edu 37 1 208212321 208212321 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025179.3 -1 reviewed p.N1503 1.000 152 0% 164 28% 21 9.5% - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl CAMK1G 57172 genome.wustl.edu 37 1 209786159 209786159 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020439.2 +1 reviewed p.V457G 0.086 125 0% 129 14% 0 - benign(0) deleterious(0) neutral(0.445) NULL C1orf74 148304 genome.wustl.edu 37 1 209956503 209956503 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152485.2 -1 predicted p.Y159 0.008 54 0% 49 40.8% 6 33.3% - - - NULL IRF6 3664 genome.wustl.edu 37 1 209964014 209964014 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006147.2 -1 reviewed p.D296N 1.000 33 0% 39 12.8% 69 13% benign(0.119) tolerated(0.24) neutral(0.047) superfamily_SMAD_FHA,HMMPfam_IRF-3 IRF6 3664 genome.wustl.edu 37 1 209969892 209969892 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006147.2 -1 reviewed p.W60* 1.000 43 0% 44 40.9% 42 11.9% - - - HMMPfam_IRF,HMMSmart_IRF,PatternScan_IRF,superfamily_SSF46785 IRF6 3664 genome.wustl.edu 37 1 209974655 209974655 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006147.2 -1 reviewed p.R35H 1.000 75 0% 57 31.6% 33 30.3% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_IRF,HMMSmart_IRF,PatternScan_IRF,superfamily_SSF46785 DIEXF 27042 genome.wustl.edu 37 1 210014329 210014329 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014388.5 +1 validated p.L472M 0.932 211 0% 118 29.7% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1253 SYT14 255928 genome.wustl.edu 37 1 210273474 210273474 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153262.2 +1 validated p.L278M 0.903 108 0% 68 25% 0 - possibly_damaging(0.822) tolerated(0.08) deleterious(0.611) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYT14 255928 genome.wustl.edu 37 1 210273662 210273662 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153262.2 +1 validated p.N340 1.000 139 0% 80 22.5% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYT14 255928 genome.wustl.edu 37 1 210329068 210329068 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153262.2 +1 validated p.G389 1.000 184 0% 138 32.6% 3 0% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYT14 255928 genome.wustl.edu 37 1 210329119 210329119 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153262.2 +1 validated p.S406 1.000 234 0% 172 29.7% 1 0% - - - NULL HHAT 55733 genome.wustl.edu 37 1 210522330 210522330 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122834.2 +1 validated p.R4Q 0.392 115 0% 91 63.7% 0 - benign(0.014) tolerated(0.41) neutral(0.015) NULL HHAT 55733 genome.wustl.edu 37 1 210560817 210560817 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122834.2 +1 validated p.A55 0.003 135 0% 114 33.3% 4 25% - - - NULL KCNH1 3756 genome.wustl.edu 37 1 210857110 210857110 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172362.2 -1 reviewed p.G828E 0.053 17 0% 23 30.4% 1 0% benign(0) tolerated(0.77) neutral(0.001) NULL KCNH1 3756 genome.wustl.edu 37 1 210977367 210977367 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172362.2 -1 reviewed p.R535Q 1.000 159 0% 102 24.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_cAMP-binding domain-like RCOR3 55758 genome.wustl.edu 37 1 211444586 211444586 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136223.1 +1 validated p.Y79C 1.000 321 0% 236 25.8% 14 7.1% benign(0.001) tolerated(0.07) neutral(0.319) HMMPfam_ELM2 TRAF5 7188 genome.wustl.edu 37 1 211544692 211544692 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033910.2 +1 reviewed p.H327Y 0.008 268 0% 124 19.4% 10 40% benign(0.277) deleterious(0.03) neutral(0.394) NULL NEK2 4751 genome.wustl.edu 37 1 211843721 211843721 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002497.2 -1 validated p.E223K 1.000 293 0% 173 27.7% 25 28% benign(0.342) deleterious(0.03) deleterious(0.472) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PPP2R5A 5525 genome.wustl.edu 37 1 212502578 212502578 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006243.2 +1 reviewed p.E95* 1.000 381 0% 249 58.6% 15 40% - - - HMMPfam_B56,superfamily_ARM repeat PPP2R5A 5525 genome.wustl.edu 37 1 212506920 212506920 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006243.2 +1 reviewed p.A154S 1.000 200 0% 139 15.1% 16 25% benign(0.158) tolerated(0.28) neutral(0.045) HMMPfam_B56,superfamily_ARM repeat TMEM206 55248 genome.wustl.edu 37 1 212558681 212558681 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018252.2 -1 validated p.P144S 1.000 83 0% 76 36.8% 9 33.3% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL TATDN3 128387 genome.wustl.edu 37 1 212981113 212981113 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042552.2 +1 validated p.R175W 0.998 270 0% 278 33.8% 4 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_TatD_DNase,superfamily_Metallo-dependent hydrolases FLVCR1 28982 genome.wustl.edu 37 1 213032341 213032341 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014053.2 +1 validated p.L183I 1.000 6 0.000 19 0.368 8 37.5% benign(0.155) tolerated(0.33) neutral(0.037) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RPS6KC1 26750 genome.wustl.edu 37 1 213415118 213415118 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012424.3 +1 validated p.H767N 0.102 97 0% 61 11.5% 8 0% benign(0) tolerated(0.27) neutral(0.034) NULL PTPN14 5784 genome.wustl.edu 37 1 214549707 214549707 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005401.4 -1 reviewed p.A921V 0.993 403 0.2% 342 30.1% 8 50% benign(0) tolerated(0.27) neutral(0.034) HMMSmart_PTPc,superfamily_SSF52799 PTPN14 5784 genome.wustl.edu 37 1 214557518 214557518 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005401.4 -1 reviewed p.K560N 1.000 24 0% 34 70.6% 8 62.5% probably_damaging(0.988) tolerated(0.07) deleterious(0.756) NULL CENPF 1063 genome.wustl.edu 37 1 214787225 214787225 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016343.3 +1 reviewed p.S43I 0.800 100 0% 64 28.1% 5 0% benign(0.071) deleterious(0) neutral(0.450) HMMPfam_Cenp-F_N CENPF 1063 genome.wustl.edu 37 1 214818434 214818434 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016343.3 +1 reviewed p.D1841Y 0.027 86 0% 46 34.8% 16 31.2% possibly_damaging(0.945) deleterious(0.04) deleterious(0.738) NULL CENPF 1063 genome.wustl.edu 37 1 214818809 214818809 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016343.3 +1 reviewed p.E1966* 1.000 94 0% 53 34% 22 9% - - - NULL CENPF 1063 genome.wustl.edu 37 1 214819993 214819993 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016343.3 +1 reviewed p.E2360D 0.956 30 0% 16 37.5% 31 9.6% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_Cenp-F_leu_zip KCTD3 51133 genome.wustl.edu 37 1 215792564 215792564 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016121.3 +1 validated p.C606Y 1.000 169 0% 112 40.2% 42 40.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL USH2A 7399 genome.wustl.edu 37 1 215848694 215848694 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206933.2 -1 reviewed p.R4187C 0.986 122 0.8% 84 28.6% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215853667 215853667 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206933.2 -1 reviewed p.R4040C 0.940 228 0% 98 60.2% 0 - benign(0.339) tolerated(0.08) neutral(0.407) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215940126 215940126 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206933.2 -1 reviewed p.L3648 1.000 117 0% 89 28.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216073529 216073529 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206933.2 -1 reviewed p.S2494 0.004 176 0% 93 39.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216243491 216243491 + Missense_Mutation SNP G G A rs141539554 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206933.2 -1 reviewed p.R2001C 0.000 145 0% 65 36.9% 0 - possibly_damaging(0.506) tolerated(0.07) deleterious(0.489) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216251691 216251691 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206933.2 -1 reviewed p.S1771N 0.984 73 0% 25 32% 0 - benign(0.001) tolerated(0.37) neutral(0.019) HMMSmart_SM00282,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 USH2A 7399 genome.wustl.edu 37 1 216373338 216373338 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206933.2 -1 reviewed p.P1148S 0.995 92 0% 59 32.2% 0 - possibly_damaging(0.617) tolerated(0.32) neutral(0.238) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases USH2A 7399 genome.wustl.edu 37 1 216420087 216420087 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206933.2 -1 reviewed p.E883D 0.999 200 0% 113 30.1% 0 - benign(0.033) tolerated(0.36) neutral(0.022) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin USH2A 7399 genome.wustl.edu 37 1 216498707 216498707 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206933.2 -1 reviewed p.N361 0.500 168 0% 95 29.5% 0 - - - - HMMPfam_Laminin_N,HMMSmart_SM00136 SPATA17 128153 genome.wustl.edu 37 1 217824462 217824462 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138796.2 +1 provisional p.I61S 0.739 372 0% 193 30.1% 6 66.6% benign(0) tolerated(0.18) neutral(0.056) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases SPATA17 128153 genome.wustl.edu 37 1 217915437 217915437 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138796.2 +1 provisional p.K172 1.000 164 0% 122 40.2% 7 85.7% - - - NULL TGFB2 7042 genome.wustl.edu 37 1 218607530 218607530 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135599.1 +1 validated p.A234D 1.000 154 0% 83 26.5% 5 40% possibly_damaging(0.745) deleterious(0) deleterious(0.718) HMMPfam_TGFb_propeptide SLC30A10 55532 genome.wustl.edu 37 1 220089055 220089055 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018713.2 -1 validated p.L398F 0.000 80 0% 55 27.3% 0 - possibly_damaging(0.81) deleterious(0.02) deleterious(0.688) NULL SLC30A10 55532 genome.wustl.edu 37 1 220091629 220091629 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018713.2 -1 validated p.M309T 1.000 96 0% 83 60.2% 0 - probably_damaging(0.995) tolerated(1) neutral(0.458) HMMPfam_Cation_efflux EPRS 2058 genome.wustl.edu 37 1 220151968 220151968 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004446.2 -1 reviewed p.L1335I 0.997 252 0% 111 35.1% 126 36.5% benign(0.004) tolerated(0.19) neutral(0.050) HMMPfam_HGTP_anticodon,superfamily_Anticodon_bd EPRS 2058 genome.wustl.edu 37 1 220178625 220178625 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004446.2 -1 reviewed p.G676 0.008 420 0% 181 33.7% 53 28.3% - - - superfamily_Ribosomal_L25rel,HMMPfam_tRNA-synt_1c_C EPRS 2058 genome.wustl.edu 37 1 220193518 220193518 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004446.2 -1 reviewed p.I387 1.000 302 0.3% 190 28.4% 59 27.1% - - - HMMPfam_tRNA-synt_1c,superfamily_SSF52374 BPNT1 10380 genome.wustl.edu 37 1 220240733 220240733 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006085.4 -1 validated p.L129I 1.000 340 0.3% 151 22.5% 27 25.9% benign(0.158) tolerated(0.11) neutral(0.286) HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase IARS2 55699 genome.wustl.edu 37 1 220311314 220311314 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018060.3 +1 validated p.D702N 1.000 102 0% 104 14.4% 150 8.6% benign(0) tolerated(0.07) neutral(0.319) HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase IARS2 55699 genome.wustl.edu 37 1 220316345 220316345 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018060.3 +1 validated p.G874R 1.000 380 0.3% 287 28.2% 115 38.2% possibly_damaging(0.855) tolerated(0.31) neutral(0.357) superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 IARS2 55699 genome.wustl.edu 37 1 220316379 220316379 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018060.3 +1 validated p.M885T 1.000 319 0% 250 34.8% 134 29.8% benign(0.085) deleterious(0.01) neutral(0.412) superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 RAB3GAP2 25782 genome.wustl.edu 37 1 220330696 220330696 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012414.3 -1 reviewed p.H1157 1.000 100 0% 70 41.4% 27 22.2% - - - NULL RAB3GAP2 25782 genome.wustl.edu 37 1 220383822 220383822 + Missense_Mutation SNP G G T rs143415462 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012414.3 -1 reviewed p.L174I 0.998 95 0% 60 10% 24 4.1% probably_damaging(0.993) tolerated(0.18) deleterious(0.506) NULL MARK1 4139 genome.wustl.edu 37 1 220809308 220809308 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018650.3 +1 validated p.S470 0.078 105 0% 66 27.3% 2 100% - - - NULL MARK1 4139 genome.wustl.edu 37 1 220826573 220826573 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018650.3 +1 validated p.R623C 0.997 27 0% 28 28.6% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MARC1 64757 genome.wustl.edu 37 1 220978576 220978576 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022746.3 +1 validated p.G283S 0.729 144 0% 185 10.3% 31 19.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MOSC,superfamily_PK beta-barrel domain-like HLX 3142 genome.wustl.edu 37 1 221057749 221057749 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021958.3 +1 validated p.D390 1.000 10 0% 17 35.3% 6 16.6% - - - NULL DUSP10 11221 genome.wustl.edu 37 1 221879663 221879663 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007207.3 -1 reviewed p.N319 0.712 58 0% 46 26.1% 16 18.7% - - - superfamily_(Phosphotyrosine protein) phosphatases II DUSP10 11221 genome.wustl.edu 37 1 221912556 221912556 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007207.3 -1 reviewed p.C177 1.000 77 0% 112 41.1% 27 40.7% - - - HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase HHIPL2 79802 genome.wustl.edu 37 1 222716993 222716993 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024746.3 -1 validated p.R287H 1.000 68 0% 78 35.9% 0 - benign(0.028) tolerated(0.1) neutral(0.288) superfamily_Quino_gluc_DH TAF1A 9015 genome.wustl.edu 37 1 222750851 222750851 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005681.2 -1 reviewed p.Q180H 1.000 374 0% 194 22.7% 4 50% benign(0.001) tolerated(0.38) neutral(0.018) NULL TAF1A 9015 genome.wustl.edu 37 1 222761825 222761825 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005681.2 -1 reviewed p.G27 0.997 284 0% 236 30.1% 6 33.3% - - - NULL MIA3 375056 genome.wustl.edu 37 1 222827811 222827811 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000354906 +1 known p.*1010Q 0.915 319 0% 226 32.7% 73 41% - - - NULL MIA3 375056 genome.wustl.edu 37 1 222832108 222832108 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198551.2 +1 validated p.R1551M 1.000 137 0% 121 41.3% 85 38.8% benign(0.183) tolerated(0.07) neutral(0.336) NULL MIA3 375056 genome.wustl.edu 37 1 222832970 222832970 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198551.2 +1 validated p.T1593A 0.003 366 0% 198 29.8% 63 25.3% benign(0.003) tolerated(0.79) neutral(0.001) NULL DISP1 84976 genome.wustl.edu 37 1 223164932 223164932 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032890.2 +1 reviewed p.G245E 1.000 437 0% 204 26.5% 0 - probably_damaging(0.965) tolerated(0.22) neutral(0.449) NULL DISP1 84976 genome.wustl.edu 37 1 223176630 223176630 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032890.2 +1 reviewed p.R631* 0.935 82 0% 82 22% 2 0% - - - HMMPfam_Patched,superfamily_SSF82866 DISP1 84976 genome.wustl.edu 37 1 223176822 223176822 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032890.2 +1 reviewed p.L695F 0.028 140 0% 120 16.7% 2 0% benign(0.019) tolerated(0.26) neutral(0.035) HMMPfam_Patched TLR5 7100 genome.wustl.edu 37 1 223283950 223283950 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003268.5 -1 reviewed p.G808 0.006 117 0% 103 26.2% 4 25% - - - HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR TLR5 7100 genome.wustl.edu 37 1 223285107 223285107 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003268.5 -1 reviewed p.L423I 0.000 193 0% 130 33.8% 1 0% benign(0.003) tolerated(0.43) neutral(0.013) superfamily_SSF52058 SUSD4 55061 genome.wustl.edu 37 1 223401026 223401026 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017982.3 -1 validated p.A324V 1.000 30 3.3% 44 27.3% 12 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C1orf65 164127 genome.wustl.edu 37 1 223568688 223568688 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152610.2 +1 validated p.*624 1.000 44 0% 35 25.7% 0 - - - - NULL CAPN8 388743 genome.wustl.edu 37 1 223803731 223803731 + Missense_Mutation SNP G G A rs192136287 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143962.1 -1 validated p.R418C 0.920 30 0% 38 13.2% 4 75% benign(0.074) deleterious(0) neutral(0.450) HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III) TP53BP2 7159 genome.wustl.edu 37 1 223983821 223983821 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031685.2 -1 reviewed p.V807A 0.000 215 0% 137 25.5% 21 38% benign(0.001) tolerated(0.72) neutral(0.002) NULL WDR26 80232 genome.wustl.edu 37 1 224581616 224581616 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025160.6 -1 reviewed p.I478S 1.000 75 0% 65 33.8% 73 17.8% benign(0.001) tolerated(0.39) neutral(0.016) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR26 80232 genome.wustl.edu 37 1 224599232 224599232 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025160.6 -1 reviewed p.T205M 1.000 291 0% 176 25% 62 43.5% possibly_damaging(0.71) deleterious(0.03) deleterious(0.621) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR26 80232 genome.wustl.edu 37 1 224605963 224605963 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025160.6 -1 reviewed p.R193G 1.000 99 0% 63 49.2% 70 47.1% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) superfamily_WD40 repeat-like CNIH3 149111 genome.wustl.edu 37 1 224922410 224922410 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152495.1 +1 provisional e5+2 1.000 182 0% 138 60.9% 0 - - - - - DNAH14 127602 genome.wustl.edu 37 1 225147866 225147866 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001373.1 +1 validated p.E77* 0.008 373 0% 108 56.5% 3 33.3% - - - NULL DNAH14 127602 genome.wustl.edu 37 1 225211557 225211557 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001373.1 +1 validated p.N450H 0.085 190 0% 79 63.3% 0 - benign(0.001) deleterious(0.04) neutral(0.349) NULL DNAH14 127602 genome.wustl.edu 37 1 225231461 225231461 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001373.1 +1 validated p.T595N 0.000 278 0% 135 24.4% 0 - possibly_damaging(0.607) tolerated(0.08) deleterious(0.510) NULL DNAH14 127602 genome.wustl.edu 37 1 225273484 225273484 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001373.1 +1 validated p.P1189L 1.000 158 0% 119 29.4% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_DHC_N2 DNAH14 127602 genome.wustl.edu 37 1 225380527 225380527 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001373.1 +1 validated p.R1912* 0.996 303 0% 106 18.9% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225428345 225428345 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001373.1 +1 validated p.I2168S 0.025 176 0% 108 25.9% 0 - benign(0.085) tolerated(0.19) neutral(0.056) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225534296 225534296 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001373.1 +1 validated p.F3653V 1.000 201 0% 94 34% 0 - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL DNAH14 127602 genome.wustl.edu 37 1 225586863 225586863 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000428003 +1 known p.R184W 0.001 247 0% 197 30.5% 0 - - - - HMMPfam_Dynein_heavy ENAH 55740 genome.wustl.edu 37 1 225705130 225705130 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000284563 -1 known p.P474 0.993 48 0% 31 19.4% 13 46.1% - - - NULL EPHX1 2052 genome.wustl.edu 37 1 226030147 226030147 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000120.3 +1 reviewed p.R338* 0.838 123 0% 124 33.1% 325 3.3% - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 LOC100288204 100288204 genome.wustl.edu 37 1 226074426 226074426 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342171.1 +1 model p.R41 0.062 11 0% 16 25% 143 32.1% - - - NULL ACBD3 64746 genome.wustl.edu 37 1 226340267 226340267 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022735.3 -1 reviewed p.D382Y 1.000 69 0% 60 31.7% 65 32.3% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL ACBD3 64746 genome.wustl.edu 37 1 226342430 226342430 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022735.3 -1 reviewed p.G336 1.000 373 0% 244 55.3% 75 68% - - - NULL ACBD3 64746 genome.wustl.edu 37 1 226346969 226346969 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022735.3 -1 reviewed p.Q273H 1.000 128 0% 104 34.6% 52 21.1% possibly_damaging(0.702) deleterious(0) deleterious(0.697) NULL PARP1 142 genome.wustl.edu 37 1 226564862 226564862 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001618.3 -1 reviewed p.N630H 1.000 164 0% 140 35.7% 125 32.8% benign(0.235) tolerated(0.15) neutral(0.265) HMMPfam_WGR,HMMSmart_SM00773 PARP1 142 genome.wustl.edu 37 1 226564979 226564979 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001618.3 -1 reviewed p.R591S 1.000 106 0% 86 31.4% 162 38.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WGR,HMMSmart_SM00773 PARP1 142 genome.wustl.edu 37 1 226574028 226574028 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001618.3 -1 reviewed p.A278V 0.997 105 0% 111 27% 172 29.6% benign(0.389) tolerated(0.14) neutral(0.374) NULL CDC42BPA 8476 genome.wustl.edu 37 1 227218145 227218145 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003607.3 -1 reviewed p.E1233K 1.000 302 0.3% 133 50.4% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CNH,HMMSmart_CNH ENSG00000221080 0 genome.wustl.edu 37 1 227695181 227695181 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000408153 -1 novel NULL 1.000 31 0% 21 61.9% 0 - - - - - ZNF678 339500 genome.wustl.edu 37 1 227842805 227842805 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178549.3 +1 validated p.R285I 0.992 93 0% 35 25.7% 4 25% benign(0.342) tolerated(0.29) neutral(0.137) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 JMJD4 65094 genome.wustl.edu 37 1 227920302 227920302 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023007.2 -1 validated p.L395F 1.000 39 0% 52 26.9% 53 33.9% possibly_damaging(0.935) deleterious(0.01) deleterious(0.786) NULL PRSS38 339501 genome.wustl.edu 37 1 228033774 228033774 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183062.2 +1 validated p.S282 0.225 73 0% 77 36.4% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys PRSS38 339501 genome.wustl.edu 37 1 228033885 228033885 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183062.2 +1 validated p.M319I 0.000 36 0% 48 29.2% 0 - benign(0.301) tolerated(1) neutral(0.093) NULL MRPL55 128308 genome.wustl.edu 37 1 228294562 228294562 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181462.2 -1 reviewed p.R132C 0.088 21 0% 30 33.3% 258 27.5% possibly_damaging(0.807) tolerated(0.08) deleterious(0.604) HMMPfam_Mitoc_L55 GUK1 2987 genome.wustl.edu 37 1 228335356 228335356 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000858.5 +1 validated p.S144I 1.000 11 0% 20 40% 585 31.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases IBA57 200205 genome.wustl.edu 37 1 228362897 228362897 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010867.2 +1 validated p.G252S 0.999 6 0.000 17 0.471 10 40% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SSF103025 OBSCN 84033 genome.wustl.edu 37 1 228433284 228433284 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.G1218S 0.999 60 0% 75 34.7% 5 20% probably_damaging(1) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228434398 228434398 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.A1309 0.016 45 0% 64 35.9% 2 0% - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228462045 228462045 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.P1861 0.000 8 0.000 14 0.357 6 16.6% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228464948 228464948 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.A2230T 0.440 25 0% 58 24.1% 7 42.8% benign(0.012) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228466617 228466617 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.A2363T 1.000 17 0% 20 30% 9 11.1% probably_damaging(1) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228468015 228468015 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.D2600A 1.000 12 0% 29 17.2% 6 16.6% possibly_damaging(0.812) deleterious(0.04) deleterious(0.654) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228473991 228473991 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.S3073P 0.996 7 0.000 10 0.400 6 16.6% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228476352 228476352 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.L3368 0.475 34 0% 55 36.4% 12 41.6% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228482619 228482619 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.R3845I 0.961 54 0% 42 28.6% 5 60% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228523935 228523935 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.T5501A 0.000 96 0% 136 35.3% 7 14.2% benign(0.125) tolerated(0.79) neutral(0.011) NULL OBSCN 84033 genome.wustl.edu 37 1 228547370 228547370 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052843.2 +1 reviewed p.R6259 0.192 7 0.000 20 0.350 33 30.3% - - - NULL OBSCN 84033 genome.wustl.edu 37 1 228563447 228563447 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098623.1 +1 reviewed p.A7570T 0.000 24 0% 60 18.3% 7 14.2% benign(0.355) tolerated(0.07) neutral(0.431) HMMSmart_SM00060,superfamily_Fibronectin type III OBSCN 84033 genome.wustl.edu 37 1 228565334 228565334 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441106 +1 known p.G2425R 0.084 48 0% 54 25.9% 7 0% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TRIM17 51127 genome.wustl.edu 37 1 228602645 228602645 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024940.2 -1 reviewed p.S43R 0.780 6 0.000 8 0.500 2 0% possibly_damaging(0.921) tolerated(0.39) neutral(0.387) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 HIST3H3 8290 genome.wustl.edu 37 1 228612870 228612870 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003493.2 -1 reviewed p.R53C 1.000 10 0% 19 36.8% 1 0% probably_damaging(1) - - HMMSmart_SM00428,superfamily_Histone-fold RNF187 149603 genome.wustl.edu 37 1 228680921 228680921 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010858.2 +1 validated p.A108 0.000 18 0% 25 40% 283 26.5% - - - NULL RAB4A 5867 genome.wustl.edu 37 1 229438700 229438700 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004578.2 +1 provisional p.P211 0.050 32 0% 27 37% 85 43.5% - - - HMMSmart_SM00176 ABCB10 23456 genome.wustl.edu 37 1 229653988 229653988 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012089.2 -1 reviewed p.L719F 1.000 411 0% 287 13.2% 8 37.5% possibly_damaging(0.78) tolerated(0.11) deleterious(0.563) superfamily_SSF52540 TAF5L 27097 genome.wustl.edu 37 1 229730571 229730571 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014409.3 -1 reviewed p.R415W 1.000 23 0% 41 31.7% 16 43.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00320,superfamily_WD40 repeat-like URB2 9816 genome.wustl.edu 37 1 229795002 229795002 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014777.2 +1 provisional p.Y1511* 1.000 84 0% 57 42.1% 9 33.3% - - - HMMPfam_Urb2 GALNT2 2590 genome.wustl.edu 37 1 230381858 230381858 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004481.3 +1 reviewed p.N260T 1.000 175 0.6% 142 29.6% 37 24.3% benign(0) tolerated(1) - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT2 2590 genome.wustl.edu 37 1 230386269 230386269 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004481.3 +1 reviewed p.Y324 0.901 392 0% 342 33.3% 29 20.6% - - - superfamily_Nucleotide-diphospho-sugar transferases COG2 22796 genome.wustl.edu 37 1 230820885 230820885 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007357.2 +1 reviewed p.R428M 0.060 305 0.3% 228 30.3% 36 30.5% possibly_damaging(0.717) deleterious(0) deleterious(0.704) NULL CAPN9 10753 genome.wustl.edu 37 1 230903323 230903323 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006615.2 +1 reviewed p.S191 1.000 61 0% 85 40% 0 - - - - HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases TTC13 79573 genome.wustl.edu 37 1 231067050 231067050 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024525.4 -1 validated p.L432I 0.998 135 0% 107 35.5% 13 38.4% benign(0.111) tolerated(0.15) neutral(0.249) NULL ARV1 64801 genome.wustl.edu 37 1 231125922 231125922 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022786.1 +1 provisional p.D121Y 1.000 292 0.3% 254 27.6% 18 16.6% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_Arv1 TRIM67 440730 genome.wustl.edu 37 1 231333127 231333127 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004342.3 +1 validated p.S352F 1.000 347 0% 260 25.8% 0 - benign(0.044) deleterious(0) neutral(0.447) HMMSmart_SM00502 TRIM67 440730 genome.wustl.edu 37 1 231344927 231344927 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004342.3 +1 validated p.D685G 1.000 35 0% 58 29.3% 0 - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_SPRY,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00449 GNPAT 8443 genome.wustl.edu 37 1 231386713 231386713 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014236.3 +1 reviewed p.L29F 1.000 330 0% 300 13.7% 26 19.2% benign(0.383) deleterious(0.04) deleterious(0.471) NULL GNPAT 8443 genome.wustl.edu 37 1 231408094 231408094 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014236.3 +1 reviewed p.V520A 0.996 442 0% 305 14.1% 88 11.3% possibly_damaging(0.795) deleterious(0.02) deleterious(0.681) NULL EXOC8 149371 genome.wustl.edu 37 1 231472608 231472608 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175876.3 -1 validated p.A295V 0.977 100 0% 95 16.8% 9 22.2% benign(0.001) tolerated(0.31) neutral(0.027) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232564275 232564275 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020808.3 -1 validated p.T1431I 0.000 86 0% 65 33.8% 42 19% benign(0.001) tolerated(0.36) neutral(0.020) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232596890 232596890 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020808.3 -1 validated p.C946 0.637 22 0% 23 34.8% 22 27.2% - - - superfamily_PDZ domain-like SIPA1L2 57568 genome.wustl.edu 37 1 232629350 232629350 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020808.3 -1 validated p.R514W 1.000 359 0% 250 26.8% 26 19.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Rap/Ran-GAP (Pfam 02145) SIPA1L2 57568 genome.wustl.edu 37 1 232649717 232649717 + Missense_Mutation SNP C C T rs186463568 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020808.3 -1 validated p.V457I 0.998 138 0% 105 26.7% 27 25.9% probably_damaging(0.993) tolerated(0.12) deleterious(0.711) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232650416 232650416 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020808.3 -1 validated p.A224T 0.311 106 0% 80 28.7% 12 33.3% benign(0) tolerated(0.27) neutral(0.034) NULL KIAA1383 54627 genome.wustl.edu 37 1 232943331 232943331 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019090.2 +1 validated p.D854E 0.990 106 0% 82 29.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PCNXL2 80003 genome.wustl.edu 37 1 233152685 233152685 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000429988 -1 known p.C408R 0.992 105 0% 127 26.8% 8 12.5% - - - NULL PCNXL2 80003 genome.wustl.edu 37 1 233394133 233394133 + Missense_Mutation SNP G G A rs181942130 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014801.3 -1 provisional p.S492L 0.000 84 0% 53 35.8% 6 66.6% benign(0.014) tolerated(0.06) neutral(0.323) NULL KIAA1804 84451 genome.wustl.edu 37 1 233514873 233514873 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032435.2 +1 validated p.T707 0.021 60 0% 64 35.9% 5 0% - - - NULL KIAA1804 84451 genome.wustl.edu 37 1 233518203 233518203 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032435.2 +1 validated p.R953C 0.299 41 0% 43 20.9% 35 40% probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL LOC100288820 100288820 genome.wustl.edu 37 1 233972015 233972015 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342176.1 -1 model p.S71 1.000 115 0% 51 13.7% 0 - - - - HMMPfam_LMWPc,HMMSmart_SM00226,superfamily_Phosphotyrosine protein phosphatases I TARBP1 6894 genome.wustl.edu 37 1 234556530 234556530 + Missense_Mutation SNP C C T rs183482799 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005646.3 -1 reviewed p.R1158H 0.842 368 0% 239 34.7% 8 62.5% possibly_damaging(0.855) deleterious(0) deleterious(0.774) superfamily_ARM-type_fold IRF2BP2 359948 genome.wustl.edu 37 1 234743164 234743164 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182972.2 -1 reviewed p.D495N 1.000 33 0% 37 37.8% 352 23.2% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL ARID4B 51742 genome.wustl.edu 37 1 235335969 235335969 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016374.5 -1 reviewed p.R1259W 1.000 335 0% 205 32.2% 19 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARID4B 51742 genome.wustl.edu 37 1 235377221 235377221 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016374.5 -1 reviewed p.C568* 1.000 397 0% 310 33.9% 4 25% - - - HMMSmart_SM00333 ARID4B 51742 genome.wustl.edu 37 1 235383712 235383712 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016374.5 -1 reviewed p.E438* 0.997 1006 0% 476 56.9% 1 0% - - - NULL ARID4B 51742 genome.wustl.edu 37 1 235403670 235403670 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016374.5 -1 reviewed p.Y181 0.038 337 0% 189 27% 10 50% - - - HMMPfam_RBB1NT GGPS1 9453 genome.wustl.edu 37 1 235505756 235505756 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037277.1 +1 reviewed p.A191D 1.000 278 0% 195 22.6% 28 21.4% possibly_damaging(0.872) tolerated(0.19) neutral(0.389) HMMPfam_polyprenyl_synt,PatternScan_POLYPRENYL_SYNTHET_2,superfamily_Terpenoid_synth GNG4 2786 genome.wustl.edu 37 1 235715474 235715474 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098721.1 -1 validated p.I55V 1.000 68 0% 74 33.8% 12 41.6% benign(0.001) tolerated(0.42) neutral(0.014) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain LYST 1130 genome.wustl.edu 37 1 235827794 235827794 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000081.2 -1 reviewed p.I3722 1.000 165 0.6% 69 56.5% 6 50% - - - superfamily_WD40 repeat-like LYST 1130 genome.wustl.edu 37 1 235840918 235840918 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000081.2 -1 reviewed p.P3601L 1.000 271 0.7% 149 14.8% 7 0% probably_damaging(1) - - superfamily_WD40 repeat-like LYST 1130 genome.wustl.edu 37 1 235918923 235918923 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000081.2 -1 reviewed p.A2362T 1.000 205 0% 78 33.3% 1 0% probably_damaging(1) - - NULL LYST 1130 genome.wustl.edu 37 1 235945322 235945322 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000081.2 -1 reviewed p.K1643T 1.000 290 0% 122 26.2% 4 0% probably_damaging(0.996) - - NULL LYST 1130 genome.wustl.edu 37 1 235956838 235956838 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000081.2 -1 reviewed p.L1361I 1.000 294 0% 142 27.5% 1 0% probably_damaging(0.996) tolerated(0.14) deleterious(0.711) NULL LYST 1130 genome.wustl.edu 37 1 235969067 235969067 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000081.2 -1 reviewed p.K1123 0.990 135 0% 61 27.9% 0 - - - - NULL LYST 1130 genome.wustl.edu 37 1 235969712 235969712 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000081.2 -1 reviewed p.C908 0.798 102 0% 75 22.7% 3 33.3% - - - NULL LYST 1130 genome.wustl.edu 37 1 235973498 235973498 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000081.2 -1 reviewed p.R207H 0.000 437 0% 261 24.1% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL NID1 4811 genome.wustl.edu 37 1 236142340 236142340 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002508.2 -1 reviewed p.T1193A 1.000 46 0% 64 23.4% 13 0% benign(0.003) tolerated(0.05) neutral(0.345) superfamily_YWTD domain NID1 4811 genome.wustl.edu 37 1 236208824 236208824 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002508.2 -1 reviewed p.L229V 0.000 199 0% 124 28.2% 4 25% benign(0.059) tolerated(0.19) neutral(0.054) HMMPfam_NIDO,HMMSmart_SM00539 ERO1LB 56605 genome.wustl.edu 37 1 236389600 236389600 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019891.3 -1 validated p.T341P 0.642 173 0% 110 35.5% 35 31.4% benign(0.008) tolerated(0.26) neutral(0.034) HMMPfam_ERO1,superfamily_ERO1 ERO1LB 56605 genome.wustl.edu 37 1 236389764 236389764 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019891.3 -1 validated p.R286H 1.000 269 0.4% 163 31.3% 42 19% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ERO1,superfamily_ERO1 ERO1LB 56605 genome.wustl.edu 37 1 236416757 236416757 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019891.3 -1 validated p.S91P 1.000 211 0% 116 29.3% 23 43.4% possibly_damaging(0.703) tolerated(0.23) neutral(0.294) HMMPfam_ERO1,superfamily_ERO1 ACTN2 88 genome.wustl.edu 37 1 236912544 236912544 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001103.2 +1 reviewed p.H546N 1.000 174 0% 118 35.6% 0 - benign(0.009) tolerated(0.42) neutral(0.015) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ACTN2 88 genome.wustl.edu 37 1 236920862 236920862 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001103.2 +1 reviewed p.T744M 1.000 76 0% 75 29.3% 0 - benign(0.297) tolerated(0.08) neutral(0.392) superfamily_Spectrin repeat RYR2 6262 genome.wustl.edu 37 1 237494288 237494288 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000360064 +1 known p.V77A 1.000 92 0% 78 32.1% 0 - - - - HMMPfam_Ins145_P3_rec RYR2 6262 genome.wustl.edu 37 1 237550612 237550612 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.V203G 1.000 53 0% 40 27.5% 0 - probably_damaging(0.991) - - HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 RYR2 6262 genome.wustl.edu 37 1 237711861 237711861 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.R1013W 0.998 54 0% 49 32.7% 0 - probably_damaging(0.994) - - HMMPfam_RyR RYR2 6262 genome.wustl.edu 37 1 237729889 237729889 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.S1079 0.846 42 0% 28 17.9% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237755073 237755073 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.T1399A 0.995 218 0% 147 34% 0 - benign(0.006) - - NULL RYR2 6262 genome.wustl.edu 37 1 237774264 237774264 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.S1629Y 1.000 55 0% 61 18% 0 - benign(0.208) - - NULL RYR2 6262 genome.wustl.edu 37 1 237780625 237780625 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.R1919W 1.000 105 1% 62 30.6% 0 - probably_damaging(1) - - NULL RYR2 6262 genome.wustl.edu 37 1 237791106 237791106 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed e41-1 1.000 36 0% 26 30.8% 0 - - - - - RYR2 6262 genome.wustl.edu 37 1 237802448 237802448 + Silent SNP C C T rs182038403 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.A2354 0.040 152 0% 126 11.9% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237823299 237823299 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.W2741* 1.000 520 0% 218 28.4% 0 - - - - HMMPfam_RyR RYR2 6262 genome.wustl.edu 37 1 237838107 237838107 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.R2931C 0.875 268 0% 168 28% 0 - probably_damaging(0.993) - - NULL RYR2 6262 genome.wustl.edu 37 1 237880534 237880534 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.R3454C 1.000 103 0% 94 37.2% 0 - probably_damaging(1) - - NULL RYR2 6262 genome.wustl.edu 37 1 237947752 237947752 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.A4247V 0.290 76 0% 60 21.7% 0 - possibly_damaging(0.919) - - NULL RYR2 6262 genome.wustl.edu 37 1 237949301 237949301 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035.2 +1 reviewed p.E4431D 0.993 415 0% 199 62.8% 0 - benign(0.126) - - HMMPfam_RR_TM4-6 ZP4 57829 genome.wustl.edu 37 1 238048083 238048083 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021186.2 -1 reviewed p.C459Y 0.922 58 0% 29 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Zona_pellucida,HMMSmart_SM00241 FMN2 56776 genome.wustl.edu 37 1 240370636 240370636 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020066.4 +1 validated p.E842K 0.881 129 0% 122 21.3% 13 38.4% unknown(0) tolerated(0.24) - HMMSmart_FH2,HMMPfam_Drf_FH1 FMN2 56776 genome.wustl.edu 37 1 240492733 240492733 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020066.4 +1 validated p.R1468C 1.000 381 0% 181 28.2% 15 26.6% benign(0.016) tolerated(0.22) neutral(0.043) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd FH 2271 genome.wustl.edu 37 1 241676992 241676992 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000143.2 -1 reviewed p.G97S 1.000 149 0% 113 23% 126 33.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Lyase_1,superfamily_L-aspartase-like KMO 8564 genome.wustl.edu 37 1 241755337 241755337 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003679.3 +1 validated p.R448Q 0.001 161 0% 79 36.7% 2 0% benign(0.011) tolerated(0.24) neutral(0.038) NULL CHML 1122 genome.wustl.edu 37 1 241797646 241797646 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001821.3 -1 reviewed p.S475P 1.000 127 0% 96 38.5% 14 35.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain CHML 1122 genome.wustl.edu 37 1 241797851 241797851 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001821.3 -1 reviewed p.V406 0.872 200 0% 124 16.1% 2 0% - - - HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain WDR64 128025 genome.wustl.edu 37 1 241901768 241901768 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144625.4 +1 validated p.A143V 0.211 193 0% 79 15.2% 0 - possibly_damaging(0.647) tolerated(0.3) neutral(0.256) superfamily_WD40 repeat-like MAP1LC3C 440738 genome.wustl.edu 37 1 242159664 242159664 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004343.2 -1 validated p.T82M 0.035 69 0% 69 20.3% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_MAP1_LC3,superfamily_SSF54236 PLD5 200150 genome.wustl.edu 37 1 242383317 242383317 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152666.1 -1 provisional p.A144 0.019 45 0% 28 42.9% 0 - - - - HMMPfam_PLDc,HMMSmart_PLDc,superfamily_SSF56024 CEP170 9859 genome.wustl.edu 37 1 243303405 243303405 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014812.2 -1 reviewed p.V1355G 1.000 178 0% 164 12.8% 24 12.5% probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL CEP170 9859 genome.wustl.edu 37 1 243328495 243328495 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014812.2 -1 reviewed p.Y923H 1.000 370 0% 186 33.3% 9 33.3% probably_damaging(0.996) tolerated(0.19) deleterious(0.511) NULL CEP170 9859 genome.wustl.edu 37 1 243328537 243328537 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014812.2 -1 reviewed p.R909C 0.995 324 0% 180 30.6% 8 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL CEP170 9859 genome.wustl.edu 37 1 243329212 243329212 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014812.2 -1 reviewed p.T684A 0.101 718 0% 421 13.3% 17 11.7% benign(0.004) tolerated(0.65) neutral(0.003) NULL SDCCAG8 10806 genome.wustl.edu 37 1 243581338 243581338 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006642.2 +1 validated p.T605A 0.030 282 0.4% 127 33.1% 6 33.3% benign(0.003) tolerated(0.85) neutral(0.001) NULL AKT3 10000 genome.wustl.edu 37 1 243675724 243675724 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005465.3 -1 reviewed p.V419A 1.000 507 0% 354 28.2% 0 - benign(0.003) tolerated(0.72) neutral(0.002) HMMSmart_SM00133,superfamily_Protein kinase-like (PK-like) AKT3 10000 genome.wustl.edu 37 1 243727136 243727136 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005465.3 -1 reviewed p.M278I 1.000 375 0% 206 29.6% 1 0% benign(0.204) deleterious(0) neutral(0.464) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C1orf100 200159 genome.wustl.edu 37 1 244528037 244528037 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012970.1 +1 predicted p.R12H 0.216 236 0% 215 33% 0 - benign(0.008) tolerated(0.23) neutral(0.042) NULL HNRNPU 3192 genome.wustl.edu 37 1 245022044 245022044 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031844.2 -1 reviewed p.I406S 1.000 565 0% 327 29.1% 162 0.6% possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMPfam_SPRY,HMMSmart_SM00449 KIF26B 55083 genome.wustl.edu 37 1 245766019 245766019 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018012.3 +1 provisional p.K497N 0.953 125 0% 106 55.7% 11 63.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases SMYD3 64754 genome.wustl.edu 37 1 246078830 246078830 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022743.2 -1 validated e7+2 0.998 85 0% 60 23.3% 1 100% - - - - AHCTF1 25909 genome.wustl.edu 37 1 247025374 247025374 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015446.4 -1 validated p.R1208* 1.000 288 0% 237 30.4% 8 12.5% - - - NULL AHCTF1 25909 genome.wustl.edu 37 1 247048970 247048970 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015446.4 -1 validated p.L829I 1.000 144 0% 86 22.1% 8 37.5% probably_damaging(0.991) tolerated(0.26) deleterious(0.478) NULL ZNF670 93474 genome.wustl.edu 37 1 247201026 247201026 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033213.2 -1 validated p.H299N 0.960 342 0% 243 32.1% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF124 7678 genome.wustl.edu 37 1 247320039 247320039 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003431.2 -1 provisional p.C233W 1.000 305 0% 246 29.3% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF496 84838 genome.wustl.edu 37 1 247492651 247492651 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032752.1 -1 provisional p.T77N 1.000 11 0% 23 26.1% 20 45% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) HMMPfam_SCAN,HMMSmart_SCAN NLRP3 114548 genome.wustl.edu 37 1 247588377 247588377 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079821.2 +1 reviewed p.T544 0.000 76 0% 84 32.1% 0 - - - - NULL NLRP3 114548 genome.wustl.edu 37 1 247597434 247597434 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079821.2 +1 reviewed p.C786Y 0.998 32 0% 36 33.3% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_SSF52047 OR2B11 127623 genome.wustl.edu 37 1 247615086 247615086 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004492.1 -1 provisional p.L67F 1.000 104 0% 118 26.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_SSF81321 OR2W5 441932 genome.wustl.edu 37 1 247655129 247655129 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004698.2 +1 validated p.A234T 0.001 34 0% 31 29% 0 - - - - HMMPfam_7tm_1 OR2C3 81472 genome.wustl.edu 37 1 247695078 247695078 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198074.4 -1 validated p.V246M 0.189 38 0% 50 28% 0 - possibly_damaging(0.814) deleterious(0.04) deleterious(0.656) HMMPfam_7tm_1,superfamily_SSF81321 OR2C3 81472 genome.wustl.edu 37 1 247695556 247695556 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198074.4 -1 validated p.L86 0.409 106 0% 114 31.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6F1 343169 genome.wustl.edu 37 1 247875185 247875185 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005286.1 -1 provisional p.T291 0.007 145 0% 95 34.7% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR6F1 343169 genome.wustl.edu 37 1 247875696 247875696 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005286.1 -1 provisional p.D121G 1.000 42 0% 58 12.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR14K1 343170 genome.wustl.edu 37 1 247902553 247902553 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000283225 +1 known p.V213I 0.000 543 0% 272 32% 0 - benign(0.076) tolerated(0.43) neutral(0.019) HMMPfam_7tm_1,superfamily_SSF81321 TRIM58 25893 genome.wustl.edu 37 1 248039417 248039417 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015431.3 +1 validated p.C363R 0.576 109 0% 86 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SPRY,HMMSmart_SPRY TRIM58 25893 genome.wustl.edu 37 1 248039559 248039559 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015431.3 +1 validated p.C410Y 0.002 138 0% 112 9.8% 0 - benign(0.413) tolerated(0.07) neutral(0.453) HMMPfam_SPRY,HMMSmart_SPRY OR2L8 391190 genome.wustl.edu 37 1 248112953 248112953 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001963.1 +1 provisional p.R265Q 0.001 114 0% 79 94.9% 0 - benign(0.253) deleterious(0.04) neutral(0.375) HMMPfam_7tm_1,superfamily_SSF81321 OR2AK2 391191 genome.wustl.edu 37 1 248129081 248129081 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004491.1 +1 provisional p.L150F 0.010 221 0% 164 14.6% 0 - benign(0.109) tolerated(0.13) neutral(0.261) HMMPfam_7tm_1,superfamily_SSF81321 OR2L5 81466 genome.wustl.edu 37 1 248185490 248185490 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000355281 +1 known p.A81T 0.000 241 0% 121 38% 0 - benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_SSF81321 OR2L13 284521 genome.wustl.edu 37 1 248263345 248263345 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175911.2 +1 provisional p.A223V 0.350 341 0% 229 31% 0 - benign(0.036) tolerated(0.22) neutral(0.044) HMMPfam_7tm_1,superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248343415 248343415 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004688.1 +1 provisional p.S43Y 0.000 428 0% 274 28.1% 0 - possibly_damaging(0.818) deleterious(0.04) deleterious(0.658) HMMPfam_7tm_1,superfamily_SSF81321 OR2M3 127062 genome.wustl.edu 37 1 248367069 248367069 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004689.1 +1 provisional p.R234C 0.001 356 0% 164 61% 0 - benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2M4 26245 genome.wustl.edu 37 1 248402644 248402644 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017504.1 +1 provisional p.P138 0.000 166 0% 120 62.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2T12 127064 genome.wustl.edu 37 1 248458522 248458522 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004692.1 -1 provisional p.R120H 1.000 52 0% 74 48.6% 0 - benign(0.426) deleterious(0.01) deleterious(0.544) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR2M7 391196 genome.wustl.edu 37 1 248487607 248487607 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004691.1 -1 provisional p.G88 0.000 294 0% 174 29.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512590 248512590 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001918.1 +1 provisional p.I172V 0.000 133 0% 74 32.4% 0 - benign(0.002) tolerated(0.5) neutral(0.010) HMMPfam_7tm_1,superfamily_SSF81321 OR2T6 254879 genome.wustl.edu 37 1 248551705 248551705 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005471.1 +1 provisional p.H266Y 0.952 192 0% 103 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR2T1 26696 genome.wustl.edu 37 1 248570192 248570192 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030904.1 +1 provisional p.S299 0.047 136 0% 86 36% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SH3BP5L 80851 genome.wustl.edu 37 1 249118950 249118950 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030645.1 -1 provisional e1+2 1.000 139 0% 185 33% 4 100% - - - - ZNF672 79894 genome.wustl.edu 37 1 249142234 249142234 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024836.1 +1 provisional p.P254L 0.993 4 0.000 6 0.667 64 26.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_C2H2 and C2HC zinc fingers TPO 7173 genome.wustl.edu 37 2 1499963 1499963 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000547.5 +1 reviewed p.P737T 0.124 23 0% 22 50% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL TPO 7173 genome.wustl.edu 37 2 1500507 1500507 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000547.5 +1 reviewed p.G786* 0.630 61 0% 50 38% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain LOC100288793 100288793 genome.wustl.edu 37 2 1653212 1653212 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342190.1 +1 model p.M114I 0.026 10 0% 13 46.2% 5 0% - - - NULL PXDN 7837 genome.wustl.edu 37 2 1657489 1657489 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012293.1 -1 validated p.Q672R 1.000 64 0% 44 43.2% 5 0% benign(0.127) deleterious(0.03) neutral(0.375) NULL MYT1L 23040 genome.wustl.edu 37 2 1795710 1795710 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015025.2 -1 validated p.R1162C 1.000 470 0.2% 235 42.6% 0 - probably_damaging(0.999) tolerated(0.26) deleterious(0.524) NULL MYT1L 23040 genome.wustl.edu 37 2 1893171 1893171 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015025.2 -1 validated p.P786S 1.000 29 0% 39 53.8% 0 - benign(0.005) tolerated(0.17) neutral(0.059) HMMPfam_MYT1 ENSG00000252531 0 genome.wustl.edu 37 2 3628192 3628192 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000516722 +1 novel NULL 0.054 89 0% 72 47.2% 4 25% - - - - CMPK2 129607 genome.wustl.edu 37 2 6991642 6991642 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207315.2 -1 validated p.R389W 0.999 95 0% 67 46.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Thymidylate_kin,superfamily_P-loop containing nucleoside triphosphate hydrolases RSAD2 91543 genome.wustl.edu 37 2 7018219 7018219 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080657.4 +1 validated p.T96 0.236 99 0% 44 40.9% 2 0% - - - HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 RSAD2 91543 genome.wustl.edu 37 2 7036009 7036009 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080657.4 +1 validated p.K341M 0.994 123 0% 57 15.8% 0 - benign(0.018) tolerated(0.05) neutral(0.346) NULL KIDINS220 57498 genome.wustl.edu 37 2 8890323 8890323 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020738.2 -1 validated p.F1111 0.008 28 0% 28 53.6% 32 50% - - - NULL KIDINS220 57498 genome.wustl.edu 37 2 8910838 8910838 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020738.2 -1 validated p.G991 0.914 256 0% 90 38.9% 19 52.6% - - - NULL MBOAT2 129642 genome.wustl.edu 37 2 9028161 9028161 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138799.2 -1 validated p.C146 0.206 96 0% 60 41.7% 15 33.3% - - - HMMPfam_MBOAT CPSF3 51692 genome.wustl.edu 37 2 9571001 9571001 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016207.2 +1 provisional p.V111 1.000 356 0% 160 11.9% 22 9% - - - HMMPfam_Lactamase_B,superfamily_Metallo-hydrolase/oxidoreductase CPSF3 51692 genome.wustl.edu 37 2 9581974 9581974 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016207.2 +1 provisional p.P322S 1.000 143 0% 87 41.4% 67 47.7% probably_damaging(0.993) tolerated(0.09) deleterious(0.746) NULL ADAM17 6868 genome.wustl.edu 37 2 9650168 9650168 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003183.4 -1 reviewed p.D428 0.998 202 0% 85 48.2% 21 47.6% - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM17 6868 genome.wustl.edu 37 2 9658057 9658057 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003183.4 -1 reviewed p.K388N 1.000 174 1.1% 59 47.5% 14 28.5% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" GRHL1 29841 genome.wustl.edu 37 2 10095163 10095163 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000324907 +1 known p.A47V 1.000 57 0% 34 17.6% 11 9% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GRHL1 29841 genome.wustl.edu 37 2 10098922 10098922 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000324907 +1 known p.R72K 0.996 142 0% 64 45.3% 10 30% possibly_damaging(0.946) tolerated(0.86) neutral(0.391) NULL CYS1 192668 genome.wustl.edu 37 2 10199050 10199050 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037160.2 -1 validated p.P136L 0.011 9 0.000 13 0.385 1 0% probably_damaging(0.994) - - NULL HPCAL1 3241 genome.wustl.edu 37 2 10560040 10560040 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002149.2 +1 reviewed p.A53T 1.000 22 0% 14 50% 70 41.4% benign(0.133) tolerated(0.31) neutral(0.038) superfamily_EF-hand ATP6V1C2 245973 genome.wustl.edu 37 2 10911983 10911983 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039362.1 +1 reviewed p.R163 1.000 60 0% 47 44.7% 1 0% - - - HMMPfam_V-ATPase_C PDIA6 10130 genome.wustl.edu 37 2 10927442 10927442 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005742.2 -1 validated p.G374 0.161 131 0% 82 15.9% 531 12% - - - superfamily_Thioredoxin-like ROCK2 9475 genome.wustl.edu 37 2 11354966 11354966 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004850.3 -1 reviewed p.G646S 1.000 159 0.6% 91 36.3% 0 - benign(0.009) tolerated(0.57) neutral(0.007) NULL GREB1 9687 genome.wustl.edu 37 2 11770212 11770212 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014668.3 +1 reviewed p.R1530* 1.000 64 0% 38 47.4% 1 0% - - - NULL LPIN1 23175 genome.wustl.edu 37 2 11911614 11911614 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145693.1 +1 reviewed p.T135 0.000 71 0% 79 41.8% 7 71.4% - - - NULL LPIN1 23175 genome.wustl.edu 37 2 11919713 11919713 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145693.1 +1 reviewed p.T264I 0.002 162 0% 121 35.5% 3 33.3% benign(0.043) tolerated(0.19) neutral(0.052) NULL LPIN1 23175 genome.wustl.edu 37 2 11931903 11931903 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000425416 +1 known p.A34T 0.000 70 0% 39 43.6% 0 - benign(0.29) tolerated(0.25) neutral(0.127) NULL LPIN1 23175 genome.wustl.edu 37 2 11960600 11960600 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145693.1 +1 reviewed p.G825* 1.000 307 0% 123 23.6% 11 36.3% - - - HMMPfam_LNS2,HMMSmart_LNS2 TRIB2 28951 genome.wustl.edu 37 2 12880717 12880717 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021643.3 +1 reviewed p.L277 1.000 50 0% 33 45.5% 3 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DDX1 1653 genome.wustl.edu 37 2 15743376 15743376 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004939.1 +1 reviewed p.T151I 1.000 134 0% 111 45% 47 38.2% possibly_damaging(0.692) deleterious(0.01) deleterious(0.653) HMMPfam_SPRY,HMMPfam_DEAD,HMMSmart_SM00487,HMMSmart_SM00449,superfamily_P-loop containing nucleoside triphosphate hydrolases MYCN 4613 genome.wustl.edu 37 2 16085786 16085786 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005378.4 +1 reviewed p.K321R 0.998 36 0% 26 15.4% 21 19% benign(0.122) deleterious(0.04) neutral(0.359) HMMPfam_Myc_N SMC6 79677 genome.wustl.edu 37 2 17877661 17877661 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142286.1 -1 validated p.D809 1.000 861 0% 263 42.2% 11 72.7% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC6 79677 genome.wustl.edu 37 2 17919558 17919558 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142286.1 -1 validated p.G92S 1.000 261 0% 78 34.6% 13 46.1% possibly_damaging(0.928) deleterious(0.04) deleterious(0.724) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases GEN1 348654 genome.wustl.edu 37 2 17962005 17962005 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130009.1 +1 validated p.S509L 0.000 209 0% 78 46.2% 3 33.3% benign(0) tolerated(0.21) neutral(0.044) NULL MSGN1 343930 genome.wustl.edu 37 2 17998000 17998000 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105569.1 +1 provisional p.G72D 0.001 14 0% 13 53.8% 0 - possibly_damaging(0.612) tolerated(0.78) neutral(0.213) NULL KCNS3 3790 genome.wustl.edu 37 2 18113251 18113251 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002252.3 +1 reviewed p.L326F 1.000 100 0% 63 44.4% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ion_trans,superfamily_SSF81324 OSR1 130497 genome.wustl.edu 37 2 19552098 19552098 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145260.2 -1 validated p.A247T 1.000 182 0% 154 35.7% 1 0% probably_damaging(0.987) tolerated(0.17) deleterious(0.495) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OSR1 130497 genome.wustl.edu 37 2 19553070 19553070 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145260.2 -1 validated p.R166H 1.000 71 0% 60 51.7% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL WDR35 57539 genome.wustl.edu 37 2 20133189 20133189 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006657.1 -1 reviewed p.A888 0.006 243 0% 104 41.3% 5 60% - - - NULL MATN3 4148 genome.wustl.edu 37 2 20205647 20205647 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002381.4 -1 reviewed p.E216D 1.000 14 0% 21 38.1% 1 100% possibly_damaging(0.825) tolerated(0.17) neutral(0.371) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PUM2 23369 genome.wustl.edu 37 2 20511295 20511295 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015317.1 -1 provisional p.G160S 1.000 376 0% 152 44.1% 7 57.1% possibly_damaging(0.892) tolerated(0.2) neutral(0.400) NULL APOB 338 genome.wustl.edu 37 2 21225916 21225916 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000384.2 -1 reviewed p.I4126 0.000 132 0% 59 35.6% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21229372 21229372 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000384.2 -1 reviewed p.S3456 0.543 177 0% 53 34% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21231210 21231210 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000384.2 -1 reviewed p.L2844M 0.000 212 0% 74 52.7% 0 - possibly_damaging(0.905) - - NULL APOB 338 genome.wustl.edu 37 2 21234696 21234696 + Missense_Mutation SNP T T C rs140858817 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000384.2 -1 reviewed p.M1682V 0.000 144 0% 61 45.9% 0 - benign(0) - - NULL APOB 338 genome.wustl.edu 37 2 21238244 21238244 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000384.2 -1 reviewed p.Y1169C 0.419 105 0% 54 46.3% 0 - probably_damaging(0.999) - - NULL APOB 338 genome.wustl.edu 37 2 21247954 21247954 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000384.2 -1 reviewed p.K763E 1.000 131 0% 58 53.4% 0 - probably_damaging(0.999) - - HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions C2orf44 80304 genome.wustl.edu 37 2 24261758 24261758 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025203.2 -1 validated p.D203Y 1.000 31 0% 23 26.1% 6 66.6% probably_damaging(0.973) deleterious(0.05) deleterious(0.760) NULL TP53I3 9540 genome.wustl.edu 37 2 24302475 24302475 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004881.2 -1 reviewed p.G219R 0.333 124 0.8% 114 43% 7 0% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains C2orf84 653140 genome.wustl.edu 37 2 24362273 24362273 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000454150 +1 known p.E132* 1.000 554 0% 228 38.2% 0 - - - - NULL ITSN2 50618 genome.wustl.edu 37 2 24443926 24443926 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006277.2 -1 reviewed p.D1196G 1.000 100 0% 69 39.1% 9 55.5% probably_damaging(1) tolerated(0.05) deleterious(0.845) superfamily_DBL homology domain (DH-domain),superfamily_SH3-domain ADCY3 109 genome.wustl.edu 37 2 25046101 25046101 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004036.3 -1 reviewed p.E954* 1.000 64 0% 60 45% 17 11.7% - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ADCY3 109 genome.wustl.edu 37 2 25057421 25057421 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004036.3 -1 reviewed p.A634T 1.000 20 0% 18 50% 14 42.8% benign(0.096) tolerated(0.17) neutral(0.066) NULL DNMT3A 1788 genome.wustl.edu 37 2 25470575 25470575 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022552.3 -1 reviewed p.L300P 1.000 52 0% 52 42.3% 8 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT ASXL2 55252 genome.wustl.edu 37 2 25982440 25982440 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018263.4 -1 validated p.R284* 0.937 201 0.5% 127 40.9% 6 33.3% - - - NULL EPT1 85465 genome.wustl.edu 37 2 26597921 26597921 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000407686 +1 known p.V196A 1.000 432 0% 232 41.4% 3 66.6% benign(0.378) deleterious(0.03) deleterious(0.485) HMMPfam_CDP-OH_P_transf CCDC164 92749 genome.wustl.edu 37 2 26667219 26667219 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145038.2 +1 validated p.A386 1.000 136 0% 81 48.1% 1 100% - - - NULL OTOF 9381 genome.wustl.edu 37 2 26706431 26706431 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194248.2 -1 reviewed p.R431C 0.999 45 0% 42 42.9% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) OTOF 9381 genome.wustl.edu 37 2 26741909 26741909 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194248.2 -1 reviewed p.T99M 0.998 57 0% 50 34% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) C2orf18 54978 genome.wustl.edu 37 2 26997938 26997938 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017877.3 +1 validated p.F59L 1.000 43 0% 40 45% 39 69.2% benign(0.002) tolerated(1) - superfamily_SSF103481 TMEM214 54867 genome.wustl.edu 37 2 27258519 27258519 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017727.4 +1 validated p.A187V 0.724 68 1.5% 82 48.8% 68 35.2% benign(0.036) tolerated(0.29) neutral(0.031) NULL TMEM214 54867 genome.wustl.edu 37 2 27260561 27260561 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017727.4 +1 validated p.M381I 1.000 121 0% 92 37% 86 44.1% possibly_damaging(0.496) tolerated(0.06) deleterious(0.488) HMMPfam_DUF2359 AGBL5 60509 genome.wustl.edu 37 2 27277663 27277663 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021831.5 +1 validated p.F239 0.996 85 0% 100 51% 26 38.4% - - - superfamily_Zn-dependent exopeptidases EMILIN1 11117 genome.wustl.edu 37 2 27303043 27303043 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007046.3 +1 reviewed p.T65 0.201 97 0% 107 51.4% 7 0% - - - HMMPfam_EMI SLC5A6 8884 genome.wustl.edu 37 2 27423973 27423973 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021095.2 -1 validated p.R553* 1.000 26 0% 32 25% 20 30% - - - NULL CAD 790 genome.wustl.edu 37 2 27447966 27447966 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004341.3 +1 reviewed p.G492V 0.992 75 0% 63 28.6% 6 33.3% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like CAD 790 genome.wustl.edu 37 2 27459283 27459283 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000458503 +1 known p.A47V 0.994 43 0% 31 48.4% 14 78.5% - - - HMMPfam_MGS CAD 790 genome.wustl.edu 37 2 27463934 27463934 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004341.3 +1 reviewed p.G1883R 0.976 69 0% 56 25% 26 23% benign(0.234) tolerated(0.4) neutral(0.040) NULL GTF3C2 2976 genome.wustl.edu 37 2 27549522 27549522 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000431028 -1 known p.P77H 0.643 29 0% 34 44.1% 66 37.8% - - - NULL GTF3C2 2976 genome.wustl.edu 37 2 27549629 27549629 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000454704 -1 known p.P392L 1.000 59 0% 47 29.8% 85 10.5% - - - NULL GTF3C2 2976 genome.wustl.edu 37 2 27564948 27564948 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035521.1 -1 validated p.G241D 0.000 52 0% 42 52.4% 21 38% benign(0) tolerated(0.25) neutral(0.037) NULL GTF3C2 2976 genome.wustl.edu 37 2 27565835 27565835 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035521.1 -1 validated p.R143* 1.000 104 0% 84 15.5% 13 0% - - - NULL GTF3C2 2976 genome.wustl.edu 37 2 27565940 27565940 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035521.1 -1 validated p.R108* 1.000 133 0% 90 37.8% 17 29.4% - - - NULL ZNF513 130557 genome.wustl.edu 37 2 27601107 27601107 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144631.4 -1 validated p.L311 1.000 21 0% 27 70.4% 20 40% - - - NULL NRBP1 29959 genome.wustl.edu 37 2 27663717 27663717 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013392.2 +1 validated p.Q413H 1.000 64 0% 50 54% 157 46.4% benign(0.005) tolerated(0.18) neutral(0.056) NULL C2orf16 84226 genome.wustl.edu 37 2 27800908 27800908 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032266.3 +1 validated p.R490K 0.085 103 0% 42 54.8% 0 - benign(0.001) tolerated(0.9) - NULL C2orf16 84226 genome.wustl.edu 37 2 27802756 27802756 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032266.3 +1 validated p.V1106A 0.174 67 0% 36 52.8% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL ZNF512 84450 genome.wustl.edu 37 2 27823625 27823625 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032434.2 +1 validated p.Q175H 1.000 253 0% 133 48.1% 13 38.4% possibly_damaging(0.931) tolerated(0.08) deleterious(0.677) NULL CCDC121 79635 genome.wustl.edu 37 2 27851539 27851539 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142683.2 -1 validated p.G31E 0.000 34 0% 30 46.7% 0 - probably_damaging(0.998) - - NULL SUPT7L 9913 genome.wustl.edu 37 2 27878392 27878392 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014860.1 -1 provisional p.K274 1.000 104 0% 59 52.5% 28 39.2% - - - NULL SLC4A1AP 22950 genome.wustl.edu 37 2 27892160 27892160 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018158.2 +1 validated p.A417 0.996 135 0% 102 38.2% 14 50% - - - HMMPfam_dsrm,HMMSmart_DSRM RBKS 64080 genome.wustl.edu 37 2 28050438 28050438 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022128.1 -1 reviewed p.T264I 1.000 118 0% 48 43.8% 14 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) PatternScan_PFKB_KINASES_2,HMMPfam_PfkB,superfamily_SSF53613 RBKS 64080 genome.wustl.edu 37 2 28050542 28050542 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000458185 -1 known p.P90S 0.999 88 0% 40 42.5% 15 40% - - - HMMPfam_PfkB,superfamily_Ribokinase-like BRE 9577 genome.wustl.edu 37 2 28152701 28152701 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004899.3 +1 validated p.C44Y 1.000 102 0% 53 49.1% 31 54.8% possibly_damaging(0.918) tolerated(0.06) deleterious(0.691) HMMPfam_BRE PLB1 151056 genome.wustl.edu 37 2 28865911 28865911 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153021.4 +1 validated p.R1454H 0.000 22 0% 27 22.2% 0 - possibly_damaging(0.593) tolerated(0.17) neutral(0.264) NULL PPP1CB 5500 genome.wustl.edu 37 2 28999739 28999739 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002709.2 +1 reviewed p.K25N 1.000 202 0.5% 110 45.5% 107 48.5% possibly_damaging(0.742) deleterious(0) deleterious(0.717) superfamily_Metallo-dependent phosphatases PPP1CB 5500 genome.wustl.edu 37 2 29001725 29001725 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002709.2 +1 reviewed p.G79C 1.000 481 0.2% 225 43.1% 89 39.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases PPP1CB 5500 genome.wustl.edu 37 2 29011567 29011567 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002709.2 +1 reviewed p.V212 0.908 578 0% 306 47.1% 135 42.9% - - - HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases SPDYA 245711 genome.wustl.edu 37 2 29041919 29041919 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142634.1 +1 validated p.D81N 0.993 312 0% 117 41% 0 - benign(0.108) tolerated(0.2) neutral(0.058) NULL WDR43 23160 genome.wustl.edu 37 2 29152559 29152559 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015131.1 +1 validated p.D474N 1.000 289 0% 114 45.6% 17 47% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like ALK 238 genome.wustl.edu 37 2 29462582 29462582 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004304.3 -1 reviewed p.I773 1.000 24 0% 15 40% 0 - - - - NULL LBH 81606 genome.wustl.edu 37 2 30480383 30480383 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030915.3 +1 validated p.E72K 1.000 30 0% 24 45.8% 24 33.3% possibly_damaging(0.818) deleterious(0.03) deleterious(0.673) NULL GALNT14 79623 genome.wustl.edu 37 2 31147025 31147025 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024572.2 -1 validated p.S447N 0.234 463 0% 301 39.2% 0 - benign(0) tolerated(0.13) neutral(0.253) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins GALNT14 79623 genome.wustl.edu 37 2 31147045 31147045 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024572.2 -1 validated p.E440D 0.569 516 0.2% 318 46.9% 1 100% benign(0) tolerated(0.52) neutral(0.009) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins GALNT14 79623 genome.wustl.edu 37 2 31215834 31215834 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024572.2 -1 validated p.D57N 1.000 43 0% 21 33.3% 1 100% unknown(0) tolerated(0.32) - NULL CAPN14 440854 genome.wustl.edu 37 2 31399904 31399904 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145122.1 -1 validated p.E654* 0.974 17 0% 12 58.3% 0 - - - - superfamily_EF-hand CAPN14 440854 genome.wustl.edu 37 2 31412301 31412301 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145122.1 -1 validated p.R444I 0.000 72 0% 57 50.9% 0 - possibly_damaging(0.76) tolerated(0.28) neutral(0.312) HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III) CAPN14 440854 genome.wustl.edu 37 2 31423486 31423486 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145122.1 -1 validated p.S186Y 0.010 61 0% 44 31.8% 0 - benign(0.004) deleterious(0) neutral(0.445) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases EHD3 30845 genome.wustl.edu 37 2 31483516 31483516 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014600.2 +1 validated p.R215* 0.997 46 0% 43 44.2% 2 0% - - - HMMPfam_Dynamin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases XDH 7498 genome.wustl.edu 37 2 31590879 31590879 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000379.3 -1 reviewed p.I715 0.003 335 0% 158 50% 3 33.3% - - - HMMPfam_Ald_Xan_dh_C2,superfamily_Ald_xan_DH_mo_bd NLRC4 58484 genome.wustl.edu 37 2 32475483 32475483 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000360906 -1 known p.T484A 0.986 70 0% 55 40% 1 0% possibly_damaging(0.892) tolerated(0.09) deleterious(0.648) NULL NLRC4 58484 genome.wustl.edu 37 2 32475610 32475610 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000360906 -1 known p.F441L 1.000 91 0% 44 47.7% 0 - possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL BIRC6 57448 genome.wustl.edu 37 2 32620642 32620642 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016252.3 +1 reviewed p.E339K 1.000 279 0% 146 18.5% 10 50% possibly_damaging(0.882) deleterious(0) deleterious(0.789) HMMPfam_BIR,HMMSmart_SM00238,superfamily_Inhibitor of apoptosis (IAP) repeat BIRC6 57448 genome.wustl.edu 37 2 32725073 32725073 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016252.3 +1 reviewed p.S2976 0.723 71 0% 39 43.6% 10 30% - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32768495 32768495 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016252.3 +1 reviewed p.A4160V 1.000 172 0% 84 45.2% 27 48.1% benign(0.002) deleterious(0) neutral(0.445) NULL BIRC6 57448 genome.wustl.edu 37 2 32819113 32819113 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016252.3 +1 reviewed p.R4496Q 1.000 92 0% 39 61.5% 24 45.8% benign(0.417) tolerated(0.58) neutral(0.140) NULL LTBP1 4052 genome.wustl.edu 37 2 33411959 33411959 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206943.2 +1 reviewed p.C413F 1.000 185 0% 76 17.1% 12 16.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin LTBP1 4052 genome.wustl.edu 37 2 33468748 33468748 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206943.2 +1 reviewed p.L632 1.000 282 0% 136 46.3% 16 43.7% - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin LTBP1 4052 genome.wustl.edu 37 2 33526656 33526656 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000415140 +1 known p.F104S 1.000 147 0% 96 54.2% 35 37.1% - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin RASGRP3 25780 genome.wustl.edu 37 2 33783819 33783819 + Missense_Mutation SNP G G A rs75531739 byCluster;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001139488.1 +1 validated p.G596S 1.000 71 0% 63 39.7% 8 37.5% probably_damaging(0.999) tolerated(0.54) deleterious(0.498) NULL FAM98A 25940 genome.wustl.edu 37 2 33810141 33810141 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015475.3 -1 validated p.G420V 1.000 169 0% 129 45% 41 14.6% unknown(0) deleterious(0) - NULL FAM98A 25940 genome.wustl.edu 37 2 33810289 33810289 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015475.3 -1 validated p.R371* 1.000 182 0% 153 48.4% 34 8.8% - - - NULL CRIM1 51232 genome.wustl.edu 37 2 36749262 36749262 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016441.1 +1 provisional p.R745H 0.918 177 0% 73 42.5% 10 0% benign(0) tolerated(0.23) neutral(0.042) NULL CRIM1 51232 genome.wustl.edu 37 2 36771569 36771569 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016441.1 +1 provisional p.R892* 0.788 193 0.5% 79 51.9% 8 0% - - - NULL FEZ2 9637 genome.wustl.edu 37 2 36805806 36805806 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441005 -1 known p.E81* 1.000 263 0% 141 48.2% 11 27.2% possibly_damaging(0.919) tolerated(0.06) deleterious(0.692) HMMPfam_FEZ VIT 5212 genome.wustl.edu 37 2 37014328 37014328 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053276.3 +1 validated p.R323* 1.000 156 0% 73 58.9% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 VIT 5212 genome.wustl.edu 37 2 37041471 37041471 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053276.3 +1 validated p.I683M 1.000 68 0% 48 43.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53300 STRN 6801 genome.wustl.edu 37 2 37096755 37096755 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003162.2 -1 validated p.A481S 1.000 173 0% 78 56.4% 10 40% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 STRN 6801 genome.wustl.edu 37 2 37126772 37126772 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003162.2 -1 validated p.V230A 1.000 211 0% 113 45.1% 7 71.4% benign(0.005) tolerated(0.06) neutral(0.323) NULL HEATR5B 54497 genome.wustl.edu 37 2 37265159 37265159 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019024.1 -1 validated p.A1019T 1.000 120 0% 68 36.8% 9 0% benign(0.001) tolerated(0.62) neutral(0.004) superfamily_ARM repeat HEATR5B 54497 genome.wustl.edu 37 2 37268295 37268295 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019024.1 -1 validated p.G946V 0.998 136 0% 79 48.1% 9 66.6% benign(0.011) tolerated(0.06) neutral(0.323) superfamily_ARM repeat HEATR5B 54497 genome.wustl.edu 37 2 37268422 37268422 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019024.1 -1 validated p.R904* 1.000 175 0% 78 52.6% 5 60% - - - superfamily_ARM repeat CEBPZ 10153 genome.wustl.edu 37 2 37450367 37450367 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005760.2 -1 validated p.V609 0.999 351 0% 171 48% 29 37.9% - - - HMMPfam_CBF,superfamily_ARM repeat CEBPZ 10153 genome.wustl.edu 37 2 37455186 37455186 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005760.2 -1 validated p.L384I 1.000 177 0% 86 50% 23 47.8% probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_ARM repeat CEBPZ 10153 genome.wustl.edu 37 2 37458681 37458681 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005760.2 -1 validated p.F10 0.671 13 0% 21 33.3% 6 50% - - - NULL PRKD3 23683 genome.wustl.edu 37 2 37487527 37487527 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005813.3 -1 reviewed p.N629H 1.000 279 0% 109 45.9% 11 45.4% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase QPCT 25797 genome.wustl.edu 37 2 37594509 37594509 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012413.3 +1 reviewed p.P227 0.003 118 0% 46 60.9% 2 0% - - - HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases CDC42EP3 10602 genome.wustl.edu 37 2 37873616 37873616 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006449.3 -1 reviewed p.R39C 1.000 244 0% 162 37.7% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PBD,HMMSmart_SM00285 LOC344382 344382 genome.wustl.edu 37 2 38044772 38044772 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_293026.6 +1 model p.A239T 1.000 281 0.4% 139 46% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like CYP1B1-AS1 285154 genome.wustl.edu 37 2 38407739 38407739 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_027252.1 +1 predicted NULL 0.001 111 0% 47 27.7% 0 - - - - - CYP1B1-AS1 285154 genome.wustl.edu 37 2 38407882 38407882 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_027252.1 +1 predicted NULL 0.003 348 0% 146 39.7% 0 - - - - - DHX57 90957 genome.wustl.edu 37 2 39083596 39083596 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198963.1 -1 provisional p.R532K 1.000 116 0% 63 38.1% 7 42.8% probably_damaging(1) tolerated(0.5) deleterious(0.510) NULL DHX57 90957 genome.wustl.edu 37 2 39095404 39095404 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198963.1 -1 provisional p.G48 0.975 101 0% 55 43.6% 3 33.3% - - - NULL DHX57 90957 genome.wustl.edu 37 2 39095540 39095540 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198963.1 -1 provisional p.S3Y 0.999 170 0% 78 30.8% 2 0% unknown(0) - - NULL SOS1 6654 genome.wustl.edu 37 2 39222289 39222289 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005633.3 -1 reviewed p.S1107 0.067 114 0% 41 43.9% 25 52% - - - NULL THUMPD2 80745 genome.wustl.edu 37 2 39995616 39995616 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025264.4 -1 validated p.A203V 1.000 471 0% 206 38.8% 11 54.5% possibly_damaging(0.94) tolerated(0.09) deleterious(0.681) HMMPfam_THUMP THUMPD2 80745 genome.wustl.edu 37 2 39996895 39996895 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025264.4 -1 validated p.V179 0.811 205 0% 142 47.2% 9 44.4% - - - HMMPfam_THUMP SLC8A1 6546 genome.wustl.edu 37 2 40656679 40656679 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021097.2 -1 validated p.F248L 1.000 54 0% 20 40% 1 100% benign(0) tolerated(0.74) neutral(0.002) HMMPfam_Na_Ca_ex SLC8A1 6546 genome.wustl.edu 37 2 40656844 40656844 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021097.2 -1 validated p.G193R 1.000 81 0% 35 17.1% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_Ca_ex EML4 27436 genome.wustl.edu 37 2 42556101 42556101 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019063.3 +1 validated p.V806A 0.994 149 0% 74 41.9% 31 54.8% benign(0.003) tolerated(0.25) neutral(0.037) superfamily_WD40 repeat-like EML4 27436 genome.wustl.edu 37 2 42557090 42557090 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019063.3 +1 validated p.T897A 0.026 153 0% 96 40.6% 18 55.5% benign(0.001) deleterious(0.02) neutral(0.383) NULL HAAO 23498 genome.wustl.edu 37 2 43010935 43010935 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012205.2 -1 reviewed p.R78W 0.991 40 0% 39 48.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_3-HAO,superfamily_RmlC-like cupins THADA 63892 genome.wustl.edu 37 2 43458097 43458097 + Missense_Mutation SNP G G A rs114015985 byCluster;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083953.1 -1 validated p.A1951V 0.000 68 0% 63 42.9% 33 48.4% benign(0.102) deleterious(0.01) neutral(0.414) NULL THADA 63892 genome.wustl.edu 37 2 43799987 43799987 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083953.1 -1 validated p.R625I 0.130 119 0% 60 36.7% 9 66.6% benign(0.146) tolerated(0.35) neutral(0.033) superfamily_ARM repeat PLEKHH2 130271 genome.wustl.edu 37 2 43871859 43871859 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172069.3 +1 validated p.R16Q 1.000 173 0% 76 48.7% 1 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL PLEKHH2 130271 genome.wustl.edu 37 2 43919680 43919680 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172069.3 +1 validated p.A72T 1.000 155 0% 78 37.2% 1 100% probably_damaging(0.98) tolerated(0.52) neutral(0.432) NULL DYNC2LI1 51626 genome.wustl.edu 37 2 44016823 44016823 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016008.2 +1 validated p.D95N 1.000 210 0% 86 37.2% 19 31.5% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DYNC2LI1 51626 genome.wustl.edu 37 2 44032311 44032311 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016008.2 +1 validated p.D307Y 0.902 191 0.5% 91 40.7% 20 50% benign(0.397) deleterious(0.05) deleterious(0.473) NULL ABCG8 64241 genome.wustl.edu 37 2 44102302 44102302 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022437.2 +1 reviewed p.P502 0.001 37 0% 27 37% 0 - - - - HMMPfam_ABC2_membrane ABCG8 64241 genome.wustl.edu 37 2 44104795 44104795 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022437.2 +1 reviewed p.G618R 0.787 73 0% 60 50% 0 - possibly_damaging(0.787) tolerated(0.07) deleterious(0.613) NULL LRPPRC 10128 genome.wustl.edu 37 2 44209551 44209551 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133259.3 -1 reviewed p.L58 0.111 108 0% 54 33.3% 7 57.1% - - - NULL PREPL 9581 genome.wustl.edu 37 2 44586653 44586653 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006036.4 -1 reviewed p.R68W 1.000 289 0% 131 44.3% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Peptidase_S9_N CAMKMT 79823 genome.wustl.edu 37 2 44981211 44981211 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024766.3 +1 validated p.Y239C 1.000 379 0% 154 32.5% 10 40% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases SRBD1 55133 genome.wustl.edu 37 2 45773945 45773945 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018079.4 -1 validated p.A600 1.000 260 0% 155 35.5% 6 50% - - - HMMSmart_SM00732 SRBD1 55133 genome.wustl.edu 37 2 45807063 45807063 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018079.4 -1 validated p.E341 0.992 155 0% 50 44% 4 75% - - - HMMPfam_Tex_N PRKCE 5581 genome.wustl.edu 37 2 46070178 46070178 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005400.2 +1 reviewed p.D130N 1.000 215 0% 124 48.4% 5 20% possibly_damaging(0.818) deleterious(0.01) deleterious(0.715) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PRKCE 5581 genome.wustl.edu 37 2 46411911 46411911 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005400.2 +1 reviewed p.F702C 1.000 132 0% 80 51.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00133,HMMPfam_Pkinase_C EPAS1 2034 genome.wustl.edu 37 2 46583907 46583907 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001430.4 +1 reviewed p.C138 0.981 242 0% 124 39.5% 30 26.6% - - - HMMSmart_PAS,superfamily_SSF55785 MCFD2 90411 genome.wustl.edu 37 2 47136209 47136209 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139279.4 -1 reviewed p.S34 0.086 26 0% 18 44.4% 47 31.9% - - - NULL C2orf61 285051 genome.wustl.edu 37 2 47317419 47317419 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000449846 -1 known p.P85S 0.921 137 0% 99 42.4% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL MSH6 2956 genome.wustl.edu 37 2 48027370 48027370 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000179.2 +1 reviewed p.T750P 1.000 103 0% 34 14.7% 12 8.3% benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_MutS_III,superfamily_DNA repair protein MutS domain III MSH6 2956 genome.wustl.edu 37 2 48028049 48028049 + Missense_Mutation SNP G G A rs63751113 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000179.2 +1 reviewed p.R976H 1.000 65 0% 34 38.2% 21 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III,HMMPfam_MutS_IV MSH6 2956 genome.wustl.edu 37 2 48028263 48028263 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000179.2 +1 reviewed p.W1047* 1.000 87 0% 51 54.9% 36 16.6% - - - HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III MSH6 2956 genome.wustl.edu 37 2 48032786 48032786 + Nonsense_Mutation SNP G G T rs75095286 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000179.2 +1 reviewed p.E1196* 1.000 65 0% 25 44% 38 18.4% - - - HMMPfam_MutS_V,HMMSmart_SM00534,superfamily_P-loop containing nucleoside triphosphate hydrolases FBXO11 80204 genome.wustl.edu 37 2 48060162 48060162 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025133.3 -1 reviewed p.S244A 1.000 299 0% 124 31.5% 24 50% benign(0.012) tolerated(0.25) neutral(0.037) superfamily_Pectin_lyas_like,superfamily_SSF81383 LHCGR 3973 genome.wustl.edu 37 2 48925868 48925868 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000233.3 -1 reviewed p.T251K 0.088 241 0% 123 42.3% 0 - benign(0) tolerated(0.4) neutral(0.016) superfamily_L domain-like LHCGR 3973 genome.wustl.edu 37 2 48950762 48950762 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000233.3 -1 reviewed p.L153 1.000 278 0% 89 49.4% 0 - - - - superfamily_L domain-like NRXN1 9378 genome.wustl.edu 37 2 50149134 50149134 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000412315 -1 known p.R194* 1.000 444 0% 199 40.2% 0 - benign(0) tolerated(0.39) neutral(0.016) NULL NRXN1 9378 genome.wustl.edu 37 2 50282157 50282157 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135659.1 -1 reviewed p.A1288 1.000 128 0.8% 35 45.7% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN1 9378 genome.wustl.edu 37 2 50779939 50779939 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135659.1 -1 reviewed p.G555 1.000 311 0% 156 43.6% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN1 9378 genome.wustl.edu 37 2 50780043 50780043 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135659.1 -1 reviewed p.P521S 1.000 287 0% 120 43.3% 0 - possibly_damaging(0.72) deleterious(0) deleterious(0.706) superfamily_ConA_like_lec_gl CHAC2 494143 genome.wustl.edu 37 2 54001347 54001347 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008708.2 +1 provisional p.D80 1.000 414 0% 197 46.7% 6 33.3% - - - HMMPfam_ChaC,superfamily_SSF110857 SPTBN1 6711 genome.wustl.edu 37 2 54856408 54856408 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003128.2 +1 reviewed p.E713K 0.984 10 0% 14 28.6% 28 82.1% benign(0.023) tolerated(0.53) neutral(0.009) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN1 6711 genome.wustl.edu 37 2 54858080 54858080 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003128.2 +1 reviewed p.E966* 1.000 17 0% 10 60% 39 7.6% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat EML6 400954 genome.wustl.edu 37 2 55056530 55056530 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039753.2 +1 validated p.R255* 0.982 270 0% 116 42.2% 1 0% - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 EML6 400954 genome.wustl.edu 37 2 55122123 55122123 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039753.2 +1 validated p.T938 0.663 184 0% 92 40.2% 1 100% - - - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase EML6 400954 genome.wustl.edu 37 2 55191240 55191240 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039753.2 +1 validated p.S1759N 1.000 152 0% 116 37.1% 2 0% probably_damaging(0.99) tolerated(0.37) neutral(0.461) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase RTN4 57142 genome.wustl.edu 37 2 55214811 55214811 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020532.4 -1 reviewed p.D1013Y 1.000 82 0% 53 18.9% 50 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Reticulon RTN4 57142 genome.wustl.edu 37 2 55253638 55253638 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020532.4 -1 reviewed p.D533N 0.902 377 0% 118 55.1% 2 50% benign(0.167) tolerated(0.36) neutral(0.035) NULL C2orf63 130162 genome.wustl.edu 37 2 55439918 55439918 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152385.2 -1 validated p.S130 0.197 408 0% 179 39.7% 0 - - - - NULL CCDC88A 55704 genome.wustl.edu 37 2 55555503 55555503 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135597.1 -1 validated p.K974T 1.000 328 0% 104 42.3% 0 - probably_damaging(1) tolerated(0.29) deleterious(0.529) NULL CCDC88A 55704 genome.wustl.edu 37 2 55573445 55573445 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135597.1 -1 validated p.R303C 1.000 276 0% 163 43.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC104 112942 genome.wustl.edu 37 2 55747601 55747601 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000339012 +1 known p.A59V 0.001 180 0% 111 55% 0 - benign(0) tolerated(0.71) neutral(0.002) NULL EFEMP1 2202 genome.wustl.edu 37 2 56098039 56098039 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039348.1 -1 reviewed p.C379Y 1.000 219 0% 71 50.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC85A 114800 genome.wustl.edu 37 2 56420033 56420033 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080433.1 +1 provisional p.S233I 1.000 6 0.000 14 0.286 1 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL CCDC85A 114800 genome.wustl.edu 37 2 56602982 56602982 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080433.1 +1 provisional p.G495E 1.000 298 0.3% 112 43.8% 0 - probably_damaging(0.998) tolerated(0.45) deleterious(0.486) NULL CCDC85A 114800 genome.wustl.edu 37 2 56611400 56611400 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080433.1 +1 provisional e6-1 1.000 118 0% 29 55.2% 0 - - - - - PAPOLG 64895 genome.wustl.edu 37 2 60998754 60998754 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022894.2 +1 reviewed p.R198H 1.000 120 0% 63 46% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAP_central,superfamily_Nucleotidyltransferase KIAA1841 84542 genome.wustl.edu 37 2 61319611 61319611 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001129993.1 +1 validated p.W367* 1.000 286 0% 88 52.3% 0 - - - - NULL USP34 9736 genome.wustl.edu 37 2 61417789 61417789 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014709.3 -1 validated p.A3198V 0.621 178 0% 92 45.7% 38 55.2% possibly_damaging(0.83) tolerated(0.22) neutral(0.357) NULL USP34 9736 genome.wustl.edu 37 2 61433186 61433186 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014709.3 -1 validated p.S3040 1.000 389 0% 138 18.1% 25 8% - - - NULL USP34 9736 genome.wustl.edu 37 2 61528259 61528259 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014709.3 -1 validated p.R1319W 1.000 118 0% 70 40% 16 25% probably_damaging(0.999) - - NULL USP34 9736 genome.wustl.edu 37 2 61566564 61566564 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014709.3 -1 validated p.S889L 1.000 461 0.2% 152 42.8% 9 44.4% possibly_damaging(0.937) - - NULL USP34 9736 genome.wustl.edu 37 2 61575161 61575161 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014709.3 -1 validated p.N710T 0.997 140 0% 80 32.5% 9 66.6% benign(0) - - NULL USP34 9736 genome.wustl.edu 37 2 61622010 61622010 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014709.3 -1 validated p.A244V 1.000 265 0.4% 150 39.3% 5 0% probably_damaging(0.98) - - NULL XPO1 7514 genome.wustl.edu 37 2 61717834 61717834 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003400.3 -1 reviewed p.E655D 1.000 473 0% 188 38.3% 89 39.3% benign(0.001) tolerated(0.21) neutral(0.044) superfamily_ARM-type_fold FAM161A 84140 genome.wustl.edu 37 2 62066790 62066790 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032180.2 -1 validated p.L450R 0.045 292 0% 165 15.2% 2 50% possibly_damaging(0.706) tolerated(0.35) neutral(0.275) HMMPfam_UPF0564 FAM161A 84140 genome.wustl.edu 37 2 62067335 62067335 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418113 -1 known p.R264H 0.976 754 0.1% 344 45.6% 1 100% - - - HMMPfam_UPF0564 FAM161A 84140 genome.wustl.edu 37 2 62067353 62067353 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418113 -1 known p.S258L 0.000 779 0% 372 40.6% 2 0% - - - HMMPfam_UPF0564 CCT4 10575 genome.wustl.edu 37 2 62096601 62096601 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006430.2 -1 validated p.R527W 1.000 253 0.4% 126 38.1% 276 46.3% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase B3GNT2 10678 genome.wustl.edu 37 2 62449643 62449643 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006577.5 +1 reviewed p.C96 0.996 69 0% 55 40% 17 23.5% - - - NULL TMEM17 200728 genome.wustl.edu 37 2 62729641 62729641 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198276.2 -1 validated p.V83 0.424 281 0% 168 11.3% 1 0% - - - HMMPfam_Transmemb_17 EHBP1 23301 genome.wustl.edu 37 2 63053398 63053398 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015252.3 +1 reviewed p.K163N 1.000 335 0% 127 43.3% 4 75% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL EHBP1 23301 genome.wustl.edu 37 2 63092096 63092096 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015252.3 +1 reviewed p.E365* 1.000 51 0% 24 45.8% 4 0% - - - NULL WDPCP 51057 genome.wustl.edu 37 2 63631410 63631410 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015910.4 -1 validated p.I403S 1.000 95 0% 32 31.2% 2 50% benign(0.382) tolerated(0.28) neutral(0.153) NULL WDPCP 51057 genome.wustl.edu 37 2 63661008 63661008 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015910.4 -1 validated p.N232K 0.032 120 0% 40 37.5% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MDH1 4190 genome.wustl.edu 37 2 63824540 63824540 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000421012 +1 known p.S55L 0.981 78 0% 47 53.2% 162 45.6% unknown(0) deleterious(0.04) - NULL VPS54 51542 genome.wustl.edu 37 2 64120624 64120624 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016516.2 -1 reviewed p.A958 1.000 250 0.4% 93 20.4% 30 23.3% - - - NULL SERTAD2 9792 genome.wustl.edu 37 2 64863595 64863595 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014755.2 -1 validated p.E137 1.000 38 0% 30 50% 17 58.8% - - - NULL SERTAD2 9792 genome.wustl.edu 37 2 64863862 64863862 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014755.2 -1 validated p.L48 1.000 191 0% 109 45% 11 27.2% - - - HMMPfam_SERTA CEP68 23177 genome.wustl.edu 37 2 65299443 65299443 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015147.2 +1 validated p.G405C 0.092 21 0% 20 40% 23 43.4% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL CEP68 23177 genome.wustl.edu 37 2 65299736 65299736 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015147.2 +1 validated p.I502M 0.000 54 0% 34 41.2% 14 42.8% possibly_damaging(0.701) tolerated(0.11) deleterious(0.524) NULL RAB1A 5861 genome.wustl.edu 37 2 65316076 65316076 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004161.4 -1 reviewed p.A139 0.997 282 0% 120 43.3% 243 45.2% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ACTR2 10097 genome.wustl.edu 37 2 65473737 65473737 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005386.2 +1 reviewed p.R85Q 1.000 320 0% 138 35.5% 106 27.3% probably_damaging(1) tolerated(0.49) deleterious(0.510) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ETAA1 54465 genome.wustl.edu 37 2 67630723 67630723 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019002.3 +1 validated p.E303D 0.127 127 0% 50 22% 6 0% benign(0.001) tolerated(1) - NULL ETAA1 54465 genome.wustl.edu 37 2 67631290 67631290 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019002.3 +1 validated p.D492 0.004 84 0% 23 52.2% 3 33.3% - - - NULL ETAA1 54465 genome.wustl.edu 37 2 67632308 67632308 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019002.3 +1 validated p.L832I 0.002 233 0% 69 52.2% 4 25% possibly_damaging(0.667) tolerated(0.24) neutral(0.273) NULL FBXO48 554251 genome.wustl.edu 37 2 68692206 68692206 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024680.1 -1 provisional p.E24D 0.002 432 0% 233 25.8% 0 - benign(0) tolerated(0.35) neutral(0.021) NULL APLF 200558 genome.wustl.edu 37 2 68765185 68765185 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173545.2 +1 validated p.S329L 0.000 123 0% 56 41.1% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL APLF 200558 genome.wustl.edu 37 2 68765266 68765266 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173545.2 +1 validated p.T356I 0.007 88 0% 44 38.6% 8 50% benign(0.026) tolerated(0.53) neutral(0.009) NULL ARHGAP25 9938 genome.wustl.edu 37 2 69002506 69002506 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007231.2 +1 validated p.A72V 0.687 48 0% 51 35.3% 1 0% benign(0.43) deleterious(0.04) deleterious(0.489) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARHGAP25 9938 genome.wustl.edu 37 2 69049843 69049843 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000497259 +1 known p.P383H 0.660 49 0% 29 41.4% 4 0% - - - NULL BMP10 27302 genome.wustl.edu 37 2 69092901 69092901 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014482.1 -1 reviewed p.K379N 1.000 221 0% 101 36.6% 0 - possibly_damaging(0.68) tolerated(0.1) deleterious(0.529) HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 ANTXR1 84168 genome.wustl.edu 37 2 69330036 69330036 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032208.2 +1 reviewed p.L256I 1.000 84 0% 47 46.8% 30 43.3% probably_damaging(0.999) tolerated(0.5) deleterious(0.500) HMMPfam_Anth_Ig ENSG00000188971 0 genome.wustl.edu 37 2 69692701 69692701 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000339092 -1 known p.A308 1.000 222 0% 115 46.1% 6 83.3% - - - NULL AAK1 22848 genome.wustl.edu 37 2 69723128 69723128 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014911.3 -1 reviewed p.P785H 1.000 65 0% 47 42.6% 2 50% probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL ANXA4 307 genome.wustl.edu 37 2 70031670 70031670 + Missense_Mutation SNP G G A rs34807725 byCluster;byFrequency;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001153.3 +1 reviewed p.D35N 0.986 19 0% 21 38.1% 73 53.4% benign(0.025) tolerated(0.15) neutral(0.242) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_ANX ANXA4 307 genome.wustl.edu 37 2 70035105 70035105 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001153.3 +1 reviewed p.R125H 0.192 25 4% 19 57.9% 71 46.4% benign(0.001) tolerated(0.1) neutral(0.286) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_ANX SNRNP27 11017 genome.wustl.edu 37 2 70122274 70122274 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006857.1 +1 provisional p.R28Q 1.000 20 0% 31 38.7% 40 42.5% unknown(0) tolerated(0.28) - HMMPfam_DUF1777 MXD1 4084 genome.wustl.edu 37 2 70165236 70165236 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002357.2 +1 reviewed p.I162 0.713 72 0% 43 51.2% 11 54.5% - - - NULL C2orf42 54980 genome.wustl.edu 37 2 70392705 70392705 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017880.1 -1 predicted p.I403L 1.000 232 0% 112 36.6% 4 75% benign(0.006) tolerated(0.29) neutral(0.029) NULL PCYOX1 51449 genome.wustl.edu 37 2 70486605 70486605 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016297.3 +1 validated p.A76T 1.000 204 0% 140 46.4% 8 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_FAD/NAD(P)-binding domain ADD2 119 genome.wustl.edu 37 2 70903901 70903901 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017482.3 -1 reviewed p.G540 0.441 18 0% 21 47.6% 0 - - - - NULL ADD2 119 genome.wustl.edu 37 2 70922899 70922899 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001617.3 -1 reviewed p.I170T 0.998 48 0% 18 44.4% 0 - benign(0) deleterious(0) neutral(0.445) HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase ATP6V1B1 525 genome.wustl.edu 37 2 71170791 71170791 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001692.3 +1 reviewed p.Y41C 1.000 18 0% 27 55.6% 4 50% probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL ANKRD53 79998 genome.wustl.edu 37 2 71212348 71212348 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001115116.1 +1 validated p.D504G 0.994 16 0.000 7 0.571 1 100% possibly_damaging(0.786) deleterious(0) deleterious(0.739) NULL PAIP2B 400961 genome.wustl.edu 37 2 71429712 71429712 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020459.1 -1 validated p.G3E 1.000 300 0% 179 44.1% 24 54.1% probably_damaging(0.996) tolerated(0.18) deleterious(0.518) NULL ZNF638 27332 genome.wustl.edu 37 2 71576137 71576137 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014972.1 +1 reviewed p.R18Q 1.000 48 0% 28 46.4% 12 58.3% benign(0.142) - - NULL ZNF638 27332 genome.wustl.edu 37 2 71650038 71650038 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014972.1 +1 reviewed p.T1132A 0.002 138 0% 65 41.5% 14 78.5% benign(0.117) tolerated(0.08) neutral(0.309) NULL ZNF638 27332 genome.wustl.edu 37 2 71653995 71653995 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014972.1 +1 reviewed p.L1666 0.996 77 0% 67 32.8% 27 48.1% - - - NULL ZNF638 27332 genome.wustl.edu 37 2 71653998 71653998 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014972.1 +1 reviewed p.S1667P 1.000 79 0% 68 57.4% 25 44% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL ZNF638 27332 genome.wustl.edu 37 2 71655769 71655769 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014972.1 +1 reviewed p.Q1880* 0.821 177 0% 82 47.6% 28 21.4% - - - NULL DYSF 8291 genome.wustl.edu 37 2 71744141 71744141 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130987.1 +1 reviewed p.R325K 1.000 195 0% 119 42.9% 1 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB DYSF 8291 genome.wustl.edu 37 2 71762178 71762178 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130987.1 +1 reviewed p.A470T 1.000 53 0% 74 44.6% 2 0% probably_damaging(0.986) tolerated(0.1) deleterious(0.721) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SFXN5 94097 genome.wustl.edu 37 2 73268002 73268002 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144579.2 -1 validated p.P77L 0.925 33 0% 33 39.4% 2 50% benign(0.284) tolerated(0.06) neutral(0.409) HMMPfam_Mtc NOTO 344022 genome.wustl.edu 37 2 73435661 73435661 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134462.1 +1 provisional p.E172D 1.000 147 0% 99 51.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like CCT7 10574 genome.wustl.edu 37 2 73475003 73475003 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006429.3 +1 reviewed p.L244 0.670 146 0% 72 38.9% 260 47.3% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like ALMS1 7840 genome.wustl.edu 37 2 73676390 73676390 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015120.4 +1 reviewed p.E911 0.004 54 0% 27 44.4% 5 60% - - - NULL ALMS1 7840 genome.wustl.edu 37 2 73677946 73677946 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015120.4 +1 reviewed p.H1430R 0.000 99 0% 39 30.8% 5 80% benign(0.235) tolerated(0.92) neutral(0.024) NULL ALMS1 7840 genome.wustl.edu 37 2 73680358 73680358 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015120.4 +1 reviewed p.K2234T 0.596 92 0% 35 48.6% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ALMS1 7840 genome.wustl.edu 37 2 73800074 73800074 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015120.4 +1 reviewed p.G3689 0.020 92 0% 23 56.5% 3 0% - - - NULL C2orf78 388960 genome.wustl.edu 37 2 74042888 74042888 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080474.1 +1 predicted p.A513D 0.000 124 0% 119 45.4% 0 - probably_damaging(0.974) tolerated(0.17) deleterious(0.475) NULL TET3 200424 genome.wustl.edu 37 2 74320740 74320740 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144993.1 +1 provisional p.F937V 1.000 16 0% 21 23.8% 8 12.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SLC4A5 57835 genome.wustl.edu 37 2 74452100 74452100 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021196.3 -1 reviewed p.R1054Q 1.000 184 0.5% 145 44.1% 0 - possibly_damaging(0.881) tolerated(0.13) deleterious(0.596) NULL SLC4A5 57835 genome.wustl.edu 37 2 74474251 74474251 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021196.3 -1 reviewed p.I657 0.137 134 0% 98 45.9% 0 - - - - HMMPfam_HCO3_cotransp SLC4A5 57835 genome.wustl.edu 37 2 74479458 74479458 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021196.3 -1 reviewed p.G442 0.544 22 0% 24 50% 0 - - - - NULL DCTN1 1639 genome.wustl.edu 37 2 74590476 74590476 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004082.3 -1 reviewed p.I1097S 1.000 6 0.000 11 0.455 150 46% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL DCTN1 1639 genome.wustl.edu 37 2 74590744 74590744 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004082.3 -1 reviewed p.R1070* 1.000 74 0% 67 43.3% 0 - - - - NULL DCTN1 1639 genome.wustl.edu 37 2 74596614 74596614 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004082.3 -1 reviewed p.A466V 0.998 44 0% 49 38.8% 106 43.3% probably_damaging(0.956) deleterious(0.01) deleterious(0.805) NULL WDR54 84058 genome.wustl.edu 37 2 74652205 74652205 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032118.2 +1 provisional p.V213 0.437 61 0% 47 36.2% 115 40% - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase PCGF1 84759 genome.wustl.edu 37 2 74732873 74732873 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032673.2 -1 validated p.S185 0.241 76 0% 51 39.2% 46 34.7% - - - NULL DQX1 165545 genome.wustl.edu 37 2 74746272 74746272 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133637.2 -1 validated p.R631Q 0.114 85 0% 61 47.5% 2 0% probably_damaging(0.986) tolerated(0.62) neutral(0.439) HMMPfam_DUF1605 DQX1 165545 genome.wustl.edu 37 2 74750060 74750060 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133637.2 -1 validated p.N409S 1.000 98 0% 58 12.1% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_P-loop containing nucleoside triphosphate hydrolases AUP1 550 genome.wustl.edu 37 2 74754170 74754170 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181575.3 -1 reviewed p.P365L 0.994 37 2.7% 39 43.6% 355 45% benign(0.002) tolerated(0.45) neutral(0.012) NULL HTRA2 27429 genome.wustl.edu 37 2 74759015 74759015 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013247.4 +1 reviewed p.R360C 1.000 63 0% 43 44.2% 50 46% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PDZ domain-like SEMA4F 10505 genome.wustl.edu 37 2 74902959 74902959 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004263.3 +1 provisional p.C522 1.000 43 0% 33 18.2% 14 21.4% - - - HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat REG3G 130120 genome.wustl.edu 37 2 79253241 79253241 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008387.1 +1 validated p.P8S 0.000 125 0% 74 54.1% 0 - benign(0.008) tolerated(0.69) neutral(0.002) NULL SUCLG1 8802 genome.wustl.edu 37 2 84676834 84676834 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003849.3 -1 reviewed p.R47Q 1.000 73 0% 25 40% 37 18.9% possibly_damaging(0.922) deleterious(0) deleterious(0.816) superfamily_NAD(P)-bd DNAH6 1768 genome.wustl.edu 37 2 84752746 84752746 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001370.1 +1 validated p.R95* 0.992 193 0% 40 12.5% 1 0% - - - NULL C2orf89 129293 genome.wustl.edu 37 2 85059231 85059231 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080824.1 -1 predicted p.R295W 0.222 58 0% 47 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C2orf89 129293 genome.wustl.edu 37 2 85097862 85097862 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080824.1 -1 predicted p.P52 0.025 19 0% 11 36.4% 0 - - - - NULL KCMF1 56888 genome.wustl.edu 37 2 85273245 85273245 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020122.4 +1 validated p.R149* 1.000 303 0% 148 45.3% 49 10.2% - - - NULL GGCX 2677 genome.wustl.edu 37 2 85777681 85777681 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000821.4 -1 reviewed p.R694H 1.000 68 0% 37 35.1% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RNF181 51255 genome.wustl.edu 37 2 85824199 85824199 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000456023 +1 known p.K96N 0.021 169 0.6% 160 42.5% 6 33.3% unknown(0) - - NULL USP39 10713 genome.wustl.edu 37 2 85863249 85863249 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006590.2 +1 validated p.K341N 1.000 189 0% 89 10.1% 46 23.9% benign(0.004) tolerated(0.94) - HMMPfam_UCH,superfamily_Cysteine proteinases ST3GAL5 8869 genome.wustl.edu 37 2 86067286 86067286 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003896.3 -1 reviewed p.G413D 1.000 175 0% 95 43.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_29 POLR1A 25885 genome.wustl.edu 37 2 86258456 86258456 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015425.3 -1 validated p.C1525 0.962 20 0% 17 23.5% 15 46.6% - - - HMMPfam_RNA_pol_Rpb1_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase KDM3A 55818 genome.wustl.edu 37 2 86705034 86705034 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018433.5 +1 reviewed p.V658 0.994 161 0% 88 40.9% 64 51.5% - - - NULL PLGLB1 5343 genome.wustl.edu 37 2 87243504 87243504 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000409795 -1 known p.N87S 0.956 694 0% 248 8.9% 5 0% benign(0.002) - - NULL SMYD1 150572 genome.wustl.edu 37 2 88383920 88383920 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198274.2 +1 provisional p.D75N 1.000 83 1.2% 47 46.8% 0 - benign(0.153) deleterious(0.04) neutral(0.362) HMMSmart_SET,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,superfamily_SSF82199 THNSL2 55258 genome.wustl.edu 37 2 88478314 88478314 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018271.3 +1 validated p.S195I 0.998 65 0% 39 53.8% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes RPIA 22934 genome.wustl.edu 37 2 89035244 89035244 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144563.2 +1 reviewed p.A196T 1.000 178 0% 113 38.9% 43 44.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Rib_5-P_isom_A,superfamily_SSF100950 RPIA 22934 genome.wustl.edu 37 2 89037501 89037501 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144563.2 +1 reviewed p.V249A 1.000 224 0% 105 41% 51 50.9% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Rib_5-P_isom_A,superfamily_SSF75445 ANKRD36BP2 645784 genome.wustl.edu 37 2 89086169 89086169 + RNA SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_015424.1 +1 predicted NULL 0.001 743 0% 293 39.2% 0 - - - - - ANKRD36BP2 645784 genome.wustl.edu 37 2 89104330 89104330 + RNA SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_015424.1 +1 predicted NULL 0.001 310 0% 120 39.2% 0 - - - - - IGKV5-2 28907 genome.wustl.edu 37 2 89197121 89197121 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390244 +1 known p.Y56H 1.000 144 0% 34 44.1% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGKV1-27 28935 genome.wustl.edu 37 2 89512918 89512918 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000498435 -1 known p.N114S 0.000 153 0% 72 34.7% 8 0% benign(0) tolerated(0.42) neutral(0.014) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1-27 28935 genome.wustl.edu 37 2 89513049 89513049 + Silent SNP G G T rs180686877 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000498435 -1 known p.I70 0.675 211 0% 91 34.1% 71 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV2D-30 28881 genome.wustl.edu 37 2 89976488 89976488 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000474213 +1 known p.P120L 0.137 77 0% 41 41.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Immunoglobulin IGKV2D-26 28884 genome.wustl.edu 37 2 90025295 90025295 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390268 +1 known p.S48I 0.021 74 0% 34 26.5% 0 - possibly_damaging(0.876) deleterious(0.01) deleterious(0.747) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1D-17 28900 genome.wustl.edu 37 2 90121938 90121938 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000483379 +1 known p.S52 0.001 205 0% 100 29% 1 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1D-42 28892 genome.wustl.edu 37 2 90229483 90229483 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390278 +1 known p.K101 0.998 89 0% 56 42.9% 0 - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGKV1D-43 28891 genome.wustl.edu 37 2 90249183 90249183 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000468879 +1 known p.A47S 0.134 129 0% 81 38.3% 0 - benign(0.047) tolerated(0.38) neutral(0.021) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin LOC442028 442028 genome.wustl.edu 37 2 95614051 95614051 + RNA SNP C C T rs148466674 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_017781.2 -1 model NULL 0.026 262 0% 133 43.6% 0 - - - - - MRPS5 64969 genome.wustl.edu 37 2 95766240 95766240 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031902.3 -1 reviewed p.K304E 1.000 964 0% 430 42.3% 39 43.5% benign(0.062) tolerated(0.24) neutral(0.041) HMMPfam_Ribosomal_S5_C,superfamily_Ribosomal protein S5 domain 2-like MRPS5 64969 genome.wustl.edu 37 2 95766260 95766260 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031902.3 -1 reviewed p.R297I 0.271 886 0.1% 399 40.9% 37 45.9% benign(0.049) deleterious(0.01) neutral(0.409) HMMPfam_Ribosomal_S5_C,superfamily_Ribosomal protein S5 domain 2-like MRPS5 64969 genome.wustl.edu 37 2 95775772 95775772 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031902.3 -1 reviewed p.L98M 1.000 184 0% 90 43.3% 42 42.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZNF514 84874 genome.wustl.edu 37 2 95815106 95815106 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032788.1 -1 provisional p.N375I 0.787 377 0% 155 37.4% 7 28.5% probably_damaging(0.992) tolerated(0.19) deleterious(0.497) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF514 84874 genome.wustl.edu 37 2 95818954 95818954 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032788.1 -1 provisional p.W15* 1.000 53 0% 37 40.5% 6 33.3% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box PROM2 150696 genome.wustl.edu 37 2 95951391 95951391 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144707.2 +1 reviewed p.Q627R 1.000 14 0% 23 39.1% 20 55% benign(0.101) tolerated(0.17) neutral(0.067) HMMPfam_Prominin LOC400986 400986 genome.wustl.edu 37 2 96521802 96521802 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001717763.2 -1 model p.D1055Y 0.566 368 0% 86 34.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC400986 400986 genome.wustl.edu 37 2 96617110 96617110 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001717763.2 -1 model p.R102Q 0.000 1054 0.2% 289 30.4% 0 - possibly_damaging(0.666) deleterious(0) deleterious(0.680) NULL GPAT2 150763 genome.wustl.edu 37 2 96687925 96687925 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000335448 -1 known p.A847S 0.999 117 0% 112 52.7% 1 0% - - - NULL ADRA2B 151 genome.wustl.edu 37 2 96781355 96781355 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000409345 -1 known p.I178 0.483 18 0% 20 45% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like STARD7 56910 genome.wustl.edu 37 2 96859010 96859010 + Silent SNP G G A rs191259608 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020151.3 -1 validated p.S210 0.994 183 0% 72 48.6% 90 41.1% - - - HMMPfam_START,HMMSmart_START,superfamily_SSF55961 SNRNP200 23020 genome.wustl.edu 37 2 96944095 96944095 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014014.3 -1 reviewed p.E1830D 1.000 101 0% 101 43.6% 105 4.7% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_Sec63,HMMSmart_SM00611 SNRNP200 23020 genome.wustl.edu 37 2 96949404 96949404 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014014.3 -1 reviewed p.K1544N 1.000 83 0% 89 33.7% 104 6.7% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_P-loop containing nucleoside triphosphate hydrolases SNRNP200 23020 genome.wustl.edu 37 2 96955619 96955619 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014014.3 -1 reviewed p.R953Q 1.000 69 0% 60 51.7% 52 84.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNRNP200 23020 genome.wustl.edu 37 2 96959242 96959242 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014014.3 -1 reviewed p.E616 1.000 51 0% 33 36.4% 22 72.7% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases SNRNP200 23020 genome.wustl.edu 37 2 96964573 96964573 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014014.3 -1 reviewed p.E288* 1.000 46 0% 30 26.7% 45 8.8% - - - NULL SNRNP200 23020 genome.wustl.edu 37 2 96967390 96967390 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014014.3 -1 reviewed p.R149L 0.998 203 0.5% 154 40.3% 24 95.8% possibly_damaging(0.607) deleterious(0.01) deleterious(0.616) NULL SNRNP200 23020 genome.wustl.edu 37 2 96970578 96970578 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014014.3 -1 reviewed p.R25H 1.000 48 0% 49 40.8% 26 73% possibly_damaging(0.824) tolerated(0.11) deleterious(0.584) NULL ITPRIPL1 150771 genome.wustl.edu 37 2 96993026 96993026 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000420728 +1 known p.S251L 0.031 27 0% 17 58.8% 1 100% - - - NULL ITPRIPL1 150771 genome.wustl.edu 37 2 96993439 96993439 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178495.5 +1 validated p.R365H 1.000 16 0% 16 50% 0 - probably_damaging(0.995) tolerated(0.18) deleterious(0.514) NULL NCAPH 23397 genome.wustl.edu 37 2 97009967 97009967 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015341.3 +1 reviewed p.E240D 1.000 98 0% 49 55.1% 15 6.6% benign(0.332) tolerated(0.43) neutral(0.117) HMMPfam_Barren KANSL3 55683 genome.wustl.edu 37 2 97274344 97274344 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001115016.1 -1 validated p.V548M 0.866 149 0% 119 21% 18 27.7% benign(0.07) tolerated(0.2) neutral(0.054) NULL KANSL3 55683 genome.wustl.edu 37 2 97297055 97297055 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001115016.1 -1 validated p.V127A 1.000 42 0% 20 45% 20 40% benign(0.153) deleterious(0) neutral(0.458) NULL SEMA4C 54910 genome.wustl.edu 37 2 97527340 97527340 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017789.4 -1 validated p.C550R 0.454 58 0% 54 14.8% 42 16.6% benign(0.004) tolerated(0.12) neutral(0.261) HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold SEMA4C 54910 genome.wustl.edu 37 2 97529978 97529978 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017789.4 -1 validated p.G368 1.000 13 0% 16 31.2% 20 40% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SEMA4C 54910 genome.wustl.edu 37 2 97530836 97530836 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017789.4 -1 validated p.G217 0.988 27 0% 32 34.4% 27 40.7% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema FAM178B 51252 genome.wustl.edu 37 2 97544190 97544190 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122646.2 -1 validated p.V574A 0.999 26 0% 18 27.8% 1 0% possibly_damaging(0.888) tolerated(0.53) neutral(0.355) NULL ANKRD36 375248 genome.wustl.edu 37 2 97817662 97817662 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000461153 +1 known p.R383Q 0.001 926 0% 271 23.6% 0 - possibly_damaging(0.939) tolerated(0.25) neutral(0.421) NULL ANKRD36 375248 genome.wustl.edu 37 2 97830154 97830154 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000461153 +1 known p.D493 0.014 550 0% 281 18.1% 3 33.3% - - - NULL ACTR1B 10120 genome.wustl.edu 37 2 98274984 98274984 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005735.3 -1 reviewed p.R188H 1.000 40 0% 41 51.2% 98 41.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 ZAP70 7535 genome.wustl.edu 37 2 98351867 98351867 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079.3 +1 reviewed p.V413I 1.000 8 0.000 10 0.500 3 0% benign(0.134) deleterious(0) neutral(0.456) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TMEM131 23505 genome.wustl.edu 37 2 98409380 98409380 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015348.1 -1 validated p.R1205* 0.928 112 0% 86 51.2% 37 35.1% - - - NULL TMEM131 23505 genome.wustl.edu 37 2 98422110 98422110 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015348.1 -1 validated p.K704N 1.000 313 0% 130 43.8% 13 61.5% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL VWA3B 200403 genome.wustl.edu 37 2 98907108 98907108 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000422503 +1 known p.F1060 0.002 331 0% 150 38% 0 - - - - NULL INPP4A 3631 genome.wustl.edu 37 2 99204018 99204018 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134224.1 +1 reviewed p.F961V 1.000 157 0% 84 48.8% 8 50% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL COA5 493753 genome.wustl.edu 37 2 99220648 99220648 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008215.1 -1 predicted p.K36Q 1.000 240 0% 129 47.3% 59 38.9% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Pet191_N MGAT4A 11320 genome.wustl.edu 37 2 99291596 99291596 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012214.2 -1 reviewed p.S102F 1.000 458 0% 208 47.6% 0 - benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_Glyco_transf_54 C2orf55 343990 genome.wustl.edu 37 2 99438643 99438643 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207362.2 -1 validated p.G698D 0.000 20 0% 15 40% 0 - unknown(0) tolerated(0.11) - NULL TSGA10 80705 genome.wustl.edu 37 2 99634789 99634789 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025244.2 -1 validated p.R649H 1.000 304 0% 192 34.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MRPL30 51263 genome.wustl.edu 37 2 99804685 99804685 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145212.2 +1 reviewed p.R33S 1.000 322 0% 154 46.8% 19 57.8% probably_damaging(0.969) deleterious(0) deleterious(0.856) NULL REV1 51455 genome.wustl.edu 37 2 100019260 100019260 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016316.2 -1 reviewed p.E1130* 0.967 200 0% 106 50.9% 8 25% - - - NULL REV1 51455 genome.wustl.edu 37 2 100065800 100065800 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016316.2 -1 reviewed p.E116D 1.000 302 0% 127 48% 12 50% benign(0.019) tolerated(1) neutral(0.001) HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain CHST10 9486 genome.wustl.edu 37 2 101010058 101010058 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004854.3 -1 validated p.F240 0.999 121 0% 83 33.7% 16 37.5% - - - HMMPfam_Sulfotransfer_2 PDCL3 79031 genome.wustl.edu 37 2 101186042 101186042 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024065.4 +1 validated p.R76Q 1.000 141 0.7% 102 41.2% 44 43.1% benign(0.053) tolerated(0.79) neutral(0.005) HMMPfam_Phosducin,superfamily_Thiordxn-like_fd NPAS2 4862 genome.wustl.edu 37 2 101611902 101611902 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002518.3 +1 reviewed p.S778L 0.971 46 0% 38 47.4% 28 53.5% possibly_damaging(0.907) deleterious(0.02) deleterious(0.744) NULL TBC1D8 11138 genome.wustl.edu 37 2 101638923 101638923 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102426.1 -1 validated p.P846T 1.000 16 0% 28 46.4% 17 29.4% benign(0.009) deleterious(0.03) neutral(0.365) superfamily_EF-hand TBC1D8 11138 genome.wustl.edu 37 2 101638931 101638931 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102426.1 -1 validated p.R843H 1.000 14 0% 29 41.4% 17 58.8% benign(0.009) tolerated(0.35) neutral(0.021) superfamily_EF-hand TBC1D8 11138 genome.wustl.edu 37 2 101666942 101666942 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102426.1 -1 validated p.V250M 0.998 32 0% 24 54.2% 15 53.3% probably_damaging(0.974) tolerated(0.08) deleterious(0.716) NULL MAP4K4 9448 genome.wustl.edu 37 2 102456450 102456450 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145686.2 +1 reviewed p.E315K 1.000 125 0% 59 59.3% 30 6.6% unknown(0) tolerated(0.15) - superfamily_Protein kinase-like (PK-like) MAP4K4 9448 genome.wustl.edu 37 2 102481499 102481499 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145686.2 +1 reviewed e18+1 1.000 70 0% 39 35.9% 0 - - - - - IL1R2 7850 genome.wustl.edu 37 2 102632422 102632422 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004633.3 +1 reviewed p.I141N 0.000 328 0% 164 21.3% 14 14.2% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMSmart_IG,superfamily_SSF48726 IL18R1 8809 genome.wustl.edu 37 2 103013311 103013311 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003855.2 +1 reviewed p.E531K 0.006 108 0% 54 46.3% 1 0% benign(0.143) tolerated(0.21) neutral(0.056) NULL SLC9A4 389015 genome.wustl.edu 37 2 103142801 103142801 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001011552.3 +1 validated p.F678L 0.002 88 0% 50 52% 0 - benign(0.071) tolerated(0.61) neutral(0.009) NULL SLC9A2 6549 genome.wustl.edu 37 2 103324696 103324696 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003048.3 +1 validated p.M729I 1.000 78 0% 58 37.9% 0 - benign(0) tolerated(0.11) neutral(0.272) NULL SLC9A2 6549 genome.wustl.edu 37 2 103324876 103324876 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003048.3 +1 validated p.P789 0.081 35 0% 29 37.9% 1 0% - - - NULL MFSD9 84804 genome.wustl.edu 37 2 103335430 103335430 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032718.3 -1 validated p.R292C 1.000 14 0% 16 31.2% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter TGFBRAP1 9392 genome.wustl.edu 37 2 105889351 105889351 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142621.1 -1 validated p.L645F 1.000 19 0% 21 38.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C2orf40 84417 genome.wustl.edu 37 2 106690499 106690499 + Silent SNP G G A rs183729457 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032411.2 +1 validated p.A95 0.785 28 0% 16 31.2% 4 0% - - - NULL UXS1 80146 genome.wustl.edu 37 2 106717549 106717549 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025076.3 -1 validated p.L312I 0.889 28 0% 33 54.5% 54 33.3% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains RGPD3 653489 genome.wustl.edu 37 2 107007935 107007935 + Nonstop_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000452099 -1 known p.*1016Y 0.016 775 0% 247 31.6% 0 - - - - NULL RGPD3 653489 genome.wustl.edu 37 2 107041202 107041202 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144013.1 -1 validated p.V1074A 0.964 404 0% 126 13.5% 5 0% benign(0) tolerated(0.26) neutral(0.034) HMMPfam_Ran_BP1,superfamily_SSF50729 RGPD3 653489 genome.wustl.edu 37 2 107052697 107052697 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144013.1 -1 validated p.G547V 1.000 416 0% 180 33.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RGPD4 285190 genome.wustl.edu 37 2 108488640 108488640 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182588.2 +1 validated p.R1394C 0.993 376 0% 113 27.4% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 SULT1C3 442038 genome.wustl.edu 37 2 108863671 108863671 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008743.1 +1 provisional p.N7 0.000 196 0% 60 45% 0 - - - - NULL SULT1C2 6819 genome.wustl.edu 37 2 108922022 108922022 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176825.2 +1 reviewed p.D261G 1.000 135 0% 79 38% 1 100% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases GCC2 9648 genome.wustl.edu 37 2 109086351 109086351 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181453.3 +1 reviewed p.K189T 0.396 133 0% 49 49% 7 71.4% benign(0.071) tolerated(0.19) neutral(0.054) NULL LIMS1 3987 genome.wustl.edu 37 2 109293105 109293105 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004987.3 +1 reviewed p.R230H 1.000 226 0% 106 63.2% 36 61.1% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) HMMPfam_LIM,HMMSmart_LIM,superfamily_SSF57716 RANBP2 5903 genome.wustl.edu 37 2 109381387 109381387 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006267.4 +1 reviewed p.L1464 0.999 167 0% 45 46.7% 31 54.8% - - - NULL RANBP2 5903 genome.wustl.edu 37 2 109382374 109382374 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006267.4 +1 reviewed p.Q1793H 1.000 118 0% 80 31.2% 40 60% probably_damaging(0.975) - - HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1 RANBP2 5903 genome.wustl.edu 37 2 109383365 109383365 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006267.4 +1 reviewed p.A2124T 1.000 119 0% 54 42.6% 32 40.6% probably_damaging(0.994) - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 CCDC138 165055 genome.wustl.edu 37 2 109429101 109429101 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000456512 +1 known p.V187A 1.000 323 0% 119 42% 4 25% - - - NULL EDAR 10913 genome.wustl.edu 37 2 109546628 109546628 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022336.3 -1 reviewed p.T41M 0.996 21 0% 18 66.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SH3RF3 344558 genome.wustl.edu 37 2 110107252 110107252 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000309415 +1 known p.S780 0.787 17 0% 15 33.3% 4 25% - - - NULL SOWAHC 65124 genome.wustl.edu 37 2 110373301 110373301 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023016.3 +1 validated p.R412H 0.923 13 0% 12 50% 5 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL BUB1 699 genome.wustl.edu 37 2 111398654 111398654 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004336.3 -1 reviewed p.F971C 1.000 100 0% 36 50% 41 53.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ACOXL 55289 genome.wustl.edu 37 2 111562850 111562850 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142807.1 +1 validated p.V211M 0.982 75 0% 54 57.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Acyl-CoA dehydrogenase NM domain-like RGPD8 727851 genome.wustl.edu 37 2 113157255 113157255 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000302558 -1 known p.A670V 1.000 623 0% 241 34% 7 0% possibly_damaging(0.852) tolerated(0.34) neutral(0.351) NULL POLR1B 84172 genome.wustl.edu 37 2 113322053 113322053 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019014.4 +1 validated p.A575T 0.786 156 0% 130 44.6% 5 0% benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_RNA_pol_Rpa2_4,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase SLC20A1 6574 genome.wustl.edu 37 2 113416801 113416801 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005415.3 +1 provisional p.G357W 0.939 107 0% 64 45.3% 34 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PHO4 IL36G 56300 genome.wustl.edu 37 2 113737622 113737622 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019618.2 +1 reviewed p.A66D 0.000 206 0% 85 38.8% 1 0% possibly_damaging(0.679) tolerated(0.19) neutral(0.291) HMMSmart_SM00125,superfamily_Cytokine IL36B 27177 genome.wustl.edu 37 2 113785528 113785528 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173178.1 -1 reviewed p.E142 0.000 148 0% 57 57.9% 0 - - - - HMMPfam_IL1,HMMSmart_SM00125,superfamily_Cytokine IL36B 27177 genome.wustl.edu 37 2 113786623 113786623 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014438.3 -1 reviewed p.E52K 0.000 392 0% 122 38.5% 0 - benign(0.132) tolerated(0.17) neutral(0.070) superfamily_Cytokine IL36B 27177 genome.wustl.edu 37 2 113788731 113788731 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014438.3 -1 reviewed p.R5 0.000 91 0% 49 44.9% 0 - - - - NULL PSD4 23550 genome.wustl.edu 37 2 113940791 113940791 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012455.2 +1 validated p.A253V 0.992 56 0% 59 44.1% 8 12.5% benign(0) deleterious(0.01) neutral(0.406) NULL PSD4 23550 genome.wustl.edu 37 2 113951182 113951182 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012455.2 +1 validated p.T682 0.993 130 0% 96 35.4% 18 44.4% - - - HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain PAX8 7849 genome.wustl.edu 37 2 113999608 113999608 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003466.3 -1 reviewed p.S193I 0.006 28 0% 24 25% 160 51.2% benign(0.069) deleterious(0.03) neutral(0.369) NULL CBWD2 150472 genome.wustl.edu 37 2 114220051 114220051 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172003.3 +1 validated p.K214N 0.052 182 0% 59 47.5% 34 52.9% benign(0) tolerated(0.37) neutral(0.019) HMMPfam_cobW,superfamily_SSF52540 SLC35F5 80255 genome.wustl.edu 37 2 114500364 114500364 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025181.2 -1 provisional p.S219P 1.000 337 0% 124 11.3% 29 6.8% probably_damaging(0.982) tolerated(0.05) deleterious(0.772) superfamily_Multidrug resistance efflux transporter EmrE CCDC93 54520 genome.wustl.edu 37 2 118732462 118732462 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019044.3 -1 validated p.S255 0.981 100 0% 66 50% 12 41.6% - - - NULL STEAP3 55240 genome.wustl.edu 37 2 120005513 120005513 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182915.2 +1 validated p.P261S 1.000 9 0.000 14 0.714 11 72.7% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL ENSG00000163075 0 genome.wustl.edu 37 2 120388372 120388372 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000443972 +1 known p.R182Q 0.000 187 0% 137 47.4% 0 - - - - NULL EPB41L5 57669 genome.wustl.edu 37 2 120858391 120858391 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020909.3 +1 validated e15+1 1.000 68 0% 33 45.5% 0 - - - - - GLI2 2736 genome.wustl.edu 37 2 121554926 121554926 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005270.4 +1 reviewed p.S10 0.008 22 0% 14 50% 0 - - - - NULL GLI2 2736 genome.wustl.edu 37 2 121555009 121555009 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005270.4 +1 reviewed p.A38V 0.671 18 0% 11 54.5% 0 - unknown(0) deleterious(0) - NULL GLI2 2736 genome.wustl.edu 37 2 121732619 121732619 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005270.4 +1 reviewed p.I434 0.999 20 0% 27 44.4% 0 - - - - NULL CLASP1 23332 genome.wustl.edu 37 2 122215308 122215308 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015282.2 -1 validated p.P447H 1.000 277 0% 85 48.2% 14 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat CLASP1 23332 genome.wustl.edu 37 2 122227526 122227526 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000430234 -1 known p.R23* 1.000 125 0% 53 45.3% 7 71.4% - - - NULL TSN 7247 genome.wustl.edu 37 2 122513389 122513389 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004622.2 +1 reviewed p.G12S 1.000 21 0% 26 50% 27 62.9% benign(0.001) tolerated(0.6) neutral(0.004) superfamily_Translin CNTNAP5 129684 genome.wustl.edu 37 2 124999958 124999958 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130773.2 +1 reviewed p.E123D 1.000 81 0% 30 53.3% 0 - benign(0.155) tolerated(0.3) neutral(0.042) HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like CYP27C1 339761 genome.wustl.edu 37 2 127944889 127944889 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001665.3 -1 reviewed p.T359 0.715 62 1.6% 53 50.9% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP27C1 339761 genome.wustl.edu 37 2 127950722 127950722 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001665.3 -1 reviewed p.S317N 1.000 49 0% 45 42.2% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 ERCC3 2071 genome.wustl.edu 37 2 128051229 128051229 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000122.1 -1 reviewed p.N32D 0.753 75 0% 74 43.2% 25 44% benign(0) tolerated(0.7) neutral(0.002) NULL ENSG00000200250 0 genome.wustl.edu 37 2 128074538 128074538 + RNA SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000363380 +1 novel NULL 0.002 122 0.8% 45 55.6% 0 - - - - - MYO7B 4648 genome.wustl.edu 37 2 128384850 128384850 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000272666 +1 known p.L1446I 0.964 29 0% 39 25.6% 0 - possibly_damaging(0.609) deleterious(0) deleterious(0.655) NULL WDR33 55339 genome.wustl.edu 37 2 128481980 128481980 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018383.3 -1 reviewed p.E375K 1.000 87 0% 60 31.7% 6 50% unknown(0) deleterious(0.01) - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 WDR33 55339 genome.wustl.edu 37 2 128528495 128528495 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018383.3 -1 reviewed p.A21T 1.000 268 0% 136 24.3% 23 30.4% possibly_damaging(0.837) tolerated(0.1) deleterious(0.606) NULL POLR2D 5433 genome.wustl.edu 37 2 128610526 128610526 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004805.3 -1 reviewed p.N76S 1.000 235 0% 132 40.9% 16 37.5% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_RNA_pol_Rpb4,HMMSmart_SM00657,superfamily_HRDC-like UGGT1 56886 genome.wustl.edu 37 2 128877952 128877952 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020120.3 +1 validated p.G299R 0.930 187 0% 85 49.4% 3 33.3% benign(0.025) tolerated(0.55) neutral(0.008) NULL UGGT1 56886 genome.wustl.edu 37 2 128880799 128880799 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020120.3 +1 validated p.T371 0.214 202 0% 71 38% 10 70% - - - NULL UGGT1 56886 genome.wustl.edu 37 2 128918753 128918753 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020120.3 +1 validated p.D912 0.849 168 0% 80 45% 18 44.4% - - - NULL UGGT1 56886 genome.wustl.edu 37 2 128922345 128922345 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020120.3 +1 validated p.A956V 1.000 220 0% 108 53.7% 10 60% benign(0.11) tolerated(0.13) neutral(0.261) HMMPfam_UDP-g_GGTase CCDC74B 91409 genome.wustl.edu 37 2 130900628 130900628 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000409234 -1 known p.G170E 0.000 10 0% 14 42.9% 1 0% probably_damaging(0.994) - - NULL SMPD4 55627 genome.wustl.edu 37 2 130911292 130911292 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000457039 -1 known p.P260L 1.000 74 0% 69 37.7% 52 50% - - - NULL TUBA3E 112714 genome.wustl.edu 37 2 130949508 130949508 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207312.2 -1 validated p.E417* 0.993 110 0.9% 91 42.9% 0 - - - - superfamily_Tub_FtsZ_C TUBA3E 112714 genome.wustl.edu 37 2 130952659 130952659 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207312.2 -1 validated p.R123H 1.000 173 0% 171 39.8% 1 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ TUBA3E 112714 genome.wustl.edu 37 2 130952710 130952710 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207312.2 -1 validated p.G106D 1.000 158 0% 123 41.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ LOC653781 653781 genome.wustl.edu 37 2 131379166 131379166 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_929706.3 +1 model p.H312Y 0.001 1230 0.2% 392 21.4% 0 - benign(0.423) deleterious(0) deleterious(0.582) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat FAM123C 205147 genome.wustl.edu 37 2 131519908 131519908 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105193.1 +1 validated p.P88L 0.994 11 0% 13 53.8% 0 - benign(0) tolerated(1) - HMMPfam_WTX FAM123C 205147 genome.wustl.edu 37 2 131520861 131520861 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105193.1 +1 validated p.G406S 0.020 17 0% 25 40% 0 - possibly_damaging(0.755) tolerated(0.14) deleterious(0.528) HMMPfam_WTX ARHGEF4 50649 genome.wustl.edu 37 2 131801909 131801909 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015320.2 +1 reviewed p.R546Q 0.997 7 0.000 9 0.667 3 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PLEKHB2 55041 genome.wustl.edu 37 2 131897756 131897756 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100623.1 +1 validated p.G147E 1.000 59 0% 30 23.3% 39 20.5% benign(0.277) tolerated(0.09) neutral(0.326) NULL POTEE 445582 genome.wustl.edu 37 2 131976393 131976393 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083538.1 +1 validated p.L140M 0.079 109 0% 76 27.6% 1 100% benign(0.043) deleterious(0) neutral(0.447) superfamily_Ankyrin repeat POTEE 445582 genome.wustl.edu 37 2 132021186 132021186 + Missense_Mutation SNP G G A rs62165277 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083538.1 +1 validated p.G720S 1.000 122 0.8% 72 18.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain POTEE 445582 genome.wustl.edu 37 2 132021211 132021211 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083538.1 +1 validated p.R728Q 1.000 100 0% 59 30.5% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain POTEE 445582 genome.wustl.edu 37 2 132021701 132021701 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083538.1 +1 validated p.K891 1.000 33 0% 43 20.9% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain LOC150786 150786 genome.wustl.edu 37 2 132120745 132120745 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077637.1 -1 validated p.G183 0.955 491 0% 394 29.7% 0 - - - - superfamily_SSF52540 MIR663B 100313824 genome.wustl.edu 37 2 133014651 133014652 + RNA INS - - C rs111708138 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000408361 -1 known NULL 0.027:0.014 - - - - - - - - - - ZNF806 646915 genome.wustl.edu 37 2 133074956 133074956 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001724242.2 +1 model p.S139R 0.007 254 0% 80 20% 0 - - - - NULL ZNF806 646915 genome.wustl.edu 37 2 133074966 133074966 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001724242.2 +1 model p.V143I 0.028 253 0% 74 32.4% 0 - - - - NULL ZNF806 646915 genome.wustl.edu 37 2 133075631 133075631 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001724242.2 +1 model p.V364 0.543 237 0% 121 19% 0 - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NCKAP5 344148 genome.wustl.edu 37 2 133540092 133540092 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207363.2 -1 validated p.T1431I 0.001 53 0% 31 12.9% 4 25% benign(0.002) tolerated(0.08) neutral(0.300) NULL NCKAP5 344148 genome.wustl.edu 37 2 133541451 133541451 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207363.2 -1 validated p.S978Y 0.027 15 0% 12 33.3% 1 0% benign(0.267) deleterious(0) deleterious(0.473) NULL NCKAP5 344148 genome.wustl.edu 37 2 133542601 133542601 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207363.2 -1 validated p.S595R 0.995 42 0% 37 16.2% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MGAT5 4249 genome.wustl.edu 37 2 135102586 135102586 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002410.3 +1 validated p.G355R 1.000 239 0% 75 13.3% 10 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MGAT5 4249 genome.wustl.edu 37 2 135160633 135160633 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002410.3 +1 validated p.K485N 0.996 171 0% 66 39.4% 18 38.8% benign(0) tolerated(0.28) neutral(0.032) NULL CCNT2 905 genome.wustl.edu 37 2 135712051 135712051 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_058241.1 +1 reviewed p.V676M 1.000 228 0% 130 48.5% 24 45.8% possibly_damaging(0.922) tolerated(0.06) deleterious(0.694) NULL YSK4 80122 genome.wustl.edu 37 2 135744160 135744160 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025052.3 -1 validated p.G761D 0.000 76 0% 56 51.8% 0 - benign(0) deleterious(0) neutral(0.445) NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135809897 135809897 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012233.2 +1 reviewed e1+2 1.000 128 0.8% 102 18.6% 1 100% - - - - ZRANB3 84083 genome.wustl.edu 37 2 135985428 135985428 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032143.2 -1 provisional p.T704 0.000 344 0% 197 12.7% 1 0% - - - NULL ZRANB3 84083 genome.wustl.edu 37 2 136107737 136107737 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032143.2 -1 provisional p.T136 0.978 143 0% 90 48.9% 2 50% - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases UBXN4 23190 genome.wustl.edu 37 2 136511773 136511773 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014607.3 +1 validated p.G87* 1.000 317 0% 136 41.2% 29 0% - - - superfamily_Thiordxn-like_fd UBXN4 23190 genome.wustl.edu 37 2 136513124 136513124 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014607.3 +1 validated p.G124D 0.631 135 0% 49 46.9% 40 80% benign(0) tolerated(0.64) neutral(0.003) NULL UBXN4 23190 genome.wustl.edu 37 2 136540359 136540359 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014607.3 +1 validated p.D477N 1.000 288 0% 112 14.3% 33 0% possibly_damaging(0.948) deleterious(0.04) deleterious(0.740) NULL LCT 3938 genome.wustl.edu 37 2 136566103 136566103 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002299.2 -1 reviewed p.T1272A 1.000 143 0% 100 48% 0 - benign(0.271) deleterious(0.01) neutral(0.435) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_1 LCT 3938 genome.wustl.edu 37 2 136566238 136566238 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002299.2 -1 reviewed p.E1227K 0.012 101 0% 78 46.2% 0 - benign(0.196) tolerated(0.92) neutral(0.018) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136566679 136566679 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002299.2 -1 reviewed p.P1080T 0.998 36 0% 29 48.3% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136567082 136567082 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002299.2 -1 reviewed p.D945 0.224 37 0% 30 56.7% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136570025 136570025 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002299.2 -1 reviewed p.Q737* 0.000 79 0% 59 40.7% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136570245 136570245 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002299.2 -1 reviewed p.L663 0.959 60 0% 51 25.5% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat DARS 1615 genome.wustl.edu 37 2 136670077 136670077 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001349.2 -1 validated p.T403 0.076 204 0% 38 50% 91 45% - - - HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases THSD7B 80731 genome.wustl.edu 37 2 138030178 138030178 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080427.1 +1 provisional p.D750A 1.000 388 0% 96 40.6% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THSD7B 80731 genome.wustl.edu 37 2 138400060 138400060 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080427.1 +1 provisional p.R1239* 1.000 74 0% 30 40% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THSD7B 80731 genome.wustl.edu 37 2 138400167 138400167 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080427.1 +1 provisional p.S1274R 1.000 44 0% 30 53.3% 0 - benign(0.392) tolerated(1) neutral(0.126) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THSD7B 80731 genome.wustl.edu 37 2 138414394 138414394 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080427.1 +1 provisional p.E1349D 0.645 53 0% 22 50% 0 - possibly_damaging(0.474) tolerated(0.59) neutral(0.161) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat NXPH2 11249 genome.wustl.edu 37 2 139428686 139428686 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007226.2 -1 validated p.A201T 0.999 86 0% 48 45.8% 0 - benign(0.011) tolerated(0.73) neutral(0.002) HMMPfam_Neurexophilin LRP1B 53353 genome.wustl.edu 37 2 141083335 141083335 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000437977 -1 known p.N344S 1.000 137 0% 49 34.7% 0 - - - - HMMPfam_Ldl_recept_b,superfamily_YWTD domain LRP1B 53353 genome.wustl.edu 37 2 141260530 141260530 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018557.2 -1 validated e54+2 1.000 247 0.4% 91 28.6% 0 - - - - - LRP1B 53353 genome.wustl.edu 37 2 141294251 141294251 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018557.2 -1 validated p.S2514L 1.000 163 0.6% 51 43.1% 0 - benign(0.026) tolerated(0.13) neutral(0.254) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141299378 141299378 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018557.2 -1 validated p.I2453V 1.000 209 0% 42 33.3% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_Ldl_recept_b,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141457941 141457941 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018557.2 -1 validated p.A2226V 1.000 344 0% 75 30.7% 0 - probably_damaging(0.977) deleterious(0.01) deleterious(0.825) superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141458114 141458114 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018557.2 -1 validated p.C2168 0.997 88 0% 26 19.2% 0 - - - - HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_2,superfamily_SSF57196 LRP1B 53353 genome.wustl.edu 37 2 141526791 141526791 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018557.2 -1 validated p.F1917V 1.000 190 0% 76 25% 0 - possibly_damaging(0.591) tolerated(0.36) neutral(0.224) HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141571369 141571369 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018557.2 -1 validated p.S1739L 1.000 303 1% 109 37.6% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141707930 141707930 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018557.2 -1 validated p.H1004N 1.000 43 0% 25 36% 0 - benign(0.076) tolerated(0.32) neutral(0.029) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141777550 141777550 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018557.2 -1 validated p.K637N 1.000 178 0% 54 44.4% 0 - probably_damaging(0.98) deleterious(0.04) deleterious(0.773) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141819649 141819649 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018557.2 -1 validated p.N403H 0.996 483 0% 73 41.1% 0 - possibly_damaging(0.491) tolerated(0.26) neutral(0.198) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 ARHGAP15 55843 genome.wustl.edu 37 2 144193242 144193242 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018460.3 +1 validated p.A183T 1.000 389 0% 98 43.9% 2 0% benign(0.195) tolerated(0.24) neutral(0.056) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ARHGAP15 55843 genome.wustl.edu 37 2 144244977 144244977 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018460.3 +1 validated p.D247N 1.000 213 0% 76 34.2% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ZEB2 9839 genome.wustl.edu 37 2 145147195 145147195 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014795.3 -1 reviewed p.G1156 0.988 154 0% 102 50% 5 0% - - - NULL ZEB2 9839 genome.wustl.edu 37 2 145147312 145147312 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014795.3 -1 reviewed p.T1117 0.993 65 0% 66 39.4% 2 0% - - - NULL ZEB2 9839 genome.wustl.edu 37 2 145157704 145157704 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014795.3 -1 reviewed p.T350 1.000 202 0% 76 43.4% 0 - - - - NULL ZEB2 9839 genome.wustl.edu 37 2 145162587 145162587 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014795.3 -1 reviewed p.K136N 1.000 138 0% 56 42.9% 2 0% possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) NULL ZEB2 9839 genome.wustl.edu 37 2 145182378 145182378 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014795.3 -1 reviewed p.I130V 0.997 302 0% 118 48.3% 2 0% benign(0.004) tolerated(0.35) neutral(0.021) NULL ACVR2A 92 genome.wustl.edu 37 2 148684697 148684697 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001616.3 +1 reviewed p.A466T 1.000 346 0% 73 37% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ORC4 5000 genome.wustl.edu 37 2 148731063 148731063 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002552.2 -1 reviewed p.R30C 1.000 270 0% 79 39.2% 16 37.5% possibly_damaging(0.91) deleterious(0.01) deleterious(0.768) superfamily_SSF52540 MBD5 55777 genome.wustl.edu 37 2 149227408 149227408 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000416015 +1 known p.S372F 1.000 55 0% 20 45% 3 66.6% - - - NULL KIF5C 3800 genome.wustl.edu 37 2 149830017 149830017 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000435030 +1 known p.D429N 1.000 111 0% 60 10% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL KIF5C 3800 genome.wustl.edu 37 2 149850990 149850990 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000435030 +1 known p.R654K 1.000 64 0% 42 42.9% 3 100% benign(0) tolerated(1) - NULL KIF5C 3800 genome.wustl.edu 37 2 149866704 149866704 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000435030 +1 known p.L869P 1.000 11 0% 11 36.4% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LYPD6 130574 genome.wustl.edu 37 2 150294245 150294245 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194317.2 +1 provisional p.A8V 1.000 50 0% 22 45.5% 10 70% possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL MMADHC 27249 genome.wustl.edu 37 2 150426582 150426582 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015702.2 -1 reviewed p.R266H 1.000 283 0% 161 42.2% 160 43.1% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_DUF2246 RBM43 375287 genome.wustl.edu 37 2 152107429 152107429 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198557.2 -1 validated p.K355N 0.000 567 0% 268 35.1% 1 0% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL RBM43 375287 genome.wustl.edu 37 2 152107515 152107515 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198557.2 -1 validated p.L327I 0.000 610 0% 267 20.2% 5 60% benign(0.001) tolerated(0.71) neutral(0.002) NULL RIF1 55183 genome.wustl.edu 37 2 152273410 152273410 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000414861 +1 known p.R158C 1.000 495 0% 244 43.4% 1 100% - - - superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152276763 152276763 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018151.4 +1 reviewed p.V188G 1.000 147 0% 107 44.9% 10 70% possibly_damaging(0.922) deleterious(0) deleterious(0.816) superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152292042 152292042 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000414861 +1 known p.V373M 0.998 528 0.2% 259 44.4% 10 40% - - - NULL RIF1 55183 genome.wustl.edu 37 2 152311556 152311556 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000414861 +1 known p.W822* 0.993 262 0% 106 41.5% 8 50% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL RIF1 55183 genome.wustl.edu 37 2 152320341 152320341 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018151.4 +1 reviewed p.N1436T 0.977 75 0% 42 35.7% 10 20% possibly_damaging(0.645) tolerated(0.25) neutral(0.263) superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152322130 152322130 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018151.4 +1 reviewed p.E2032D 0.212 123 0% 67 29.9% 10 60% probably_damaging(0.996) tolerated(0.46) deleterious(0.474) superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152331502 152331502 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018151.4 +1 reviewed p.E2446K 1.000 197 0.5% 76 50% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEB 4703 genome.wustl.edu 37 2 152357903 152357903 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000509223 -1 known e23+2 1.000 386 0.3% 126 32.5% 0 - - - - - NEB 4703 genome.wustl.edu 37 2 152370908 152370908 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004543.4 -1 reviewed p.R5983H 1.000 269 0% 141 23.4% 0 - probably_damaging(0.967) tolerated(0.14) deleterious(0.658) HMMPfam_Nebulin NEB 4703 genome.wustl.edu 37 2 152381754 152381754 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004543.4 -1 reviewed p.G5698* 1.000 307 0% 104 49% 0 - - - - HMMPfam_Nebulin NEB 4703 genome.wustl.edu 37 2 152383503 152383503 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004543.4 -1 reviewed p.G5591S 1.000 234 0% 123 48% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Nebulin NEB 4703 genome.wustl.edu 37 2 152410418 152410418 + Missense_Mutation SNP C C T rs149596493 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004543.4 -1 reviewed p.R4816H 1.000 111 0% 71 12.7% 0 - benign(0.002) tolerated(0.66) neutral(0.003) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152411513 152411513 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004543.4 -1 reviewed p.L4753 0.937 217 0% 85 51.8% 0 - - - - NULL NEB 4703 genome.wustl.edu 37 2 152520060 152520060 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004543.4 -1 reviewed e43+2 1.000 227 0% 96 33.3% 0 - - - - - NEB 4703 genome.wustl.edu 37 2 152553969 152553969 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004543.4 -1 reviewed p.K420N 0.003 332 0% 228 18.4% 0 - benign(0) tolerated(0.34) neutral(0.023) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152580857 152580857 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004543.4 -1 reviewed p.E177K 1.000 171 0% 77 50.6% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152584318 152584318 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004543.4 -1 reviewed p.A61S 0.003 111 0% 39 46.2% 0 - benign(0.004) tolerated(0.17) neutral(0.059) NULL CACNB4 785 genome.wustl.edu 37 2 152717245 152717245 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000726.3 -1 reviewed p.S283L 1.000 264 0% 153 38.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ca_channel_B,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases FMNL2 114793 genome.wustl.edu 37 2 153486387 153486387 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052905.3 +1 reviewed p.V840I 1.000 505 0% 227 40.1% 18 38.8% probably_damaging(0.977) tolerated(0.11) deleterious(0.691) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd FMNL2 114793 genome.wustl.edu 37 2 153494186 153494186 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052905.3 +1 reviewed p.K982E 1.000 422 0% 171 46.2% 37 51.3% possibly_damaging(0.604) deleterious(0.01) deleterious(0.615) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd PRPF40A 55660 genome.wustl.edu 37 2 153533238 153533238 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017892.3 -1 validated p.P238S 0.998 296 0% 199 44.2% 33 42.4% benign(0.011) tolerated(0.58) neutral(0.005) NULL GALNT13 114805 genome.wustl.edu 37 2 155098576 155098576 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052917.2 +1 validated p.P115 0.999 278 0% 114 43% 0 - - - - superfamily_Nucleotide-diphospho-sugar transferases GALNT13 114805 genome.wustl.edu 37 2 155295140 155295140 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052917.2 +1 validated p.D478N 1.000 433 0.2% 161 44.1% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins ACVR1C 130399 genome.wustl.edu 37 2 158399252 158399252 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145259.2 -1 validated p.D356N 1.000 278 0.4% 89 53.9% 1 0% probably_damaging(0.997) deleterious(0.05) deleterious(0.811) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ACVR1 90 genome.wustl.edu 37 2 158594104 158594104 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105.4 -1 reviewed p.R490H 1.000 320 0% 133 46.6% 41 43.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,HMMPfam_Pkinase UPP2 151531 genome.wustl.edu 37 2 158971715 158971715 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135098.1 +1 validated p.C152R 1.000 139 0% 39 43.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases CCDC148 130940 genome.wustl.edu 37 2 159107421 159107421 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138803.3 -1 validated p.R372C 0.998 370 0.3% 97 36.1% 0 - benign(0.314) tolerated(0.12) neutral(0.359) NULL PKP4 8502 genome.wustl.edu 37 2 159488361 159488361 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003628.3 +1 reviewed p.G417E 1.000 80 0% 46 23.9% 57 21% benign(0.006) tolerated(0.53) neutral(0.007) NULL TANC1 85461 genome.wustl.edu 37 2 160087297 160087297 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033394.2 +1 validated p.V1787G 0.000 175 0% 91 46.2% 22 40.9% benign(0) tolerated(0.42) neutral(0.014) NULL BAZ2B 29994 genome.wustl.edu 37 2 160304878 160304878 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013450.2 -1 validated p.G126V 0.632 260 0% 97 41.2% 3 33.3% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL MARCH7 64844 genome.wustl.edu 37 2 160619503 160619503 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022826.2 +1 validated p.R669Q 1.000 162 0% 90 53.3% 52 32.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CD302 9936 genome.wustl.edu 37 2 160628524 160628524 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014880.4 -1 validated p.T179 0.524 224 0% 108 42.6% 16 18.7% - - - NULL PLA2R1 22925 genome.wustl.edu 37 2 160840477 160840477 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007366.3 -1 validated p.E715D 1.000 136 0% 41 70.7% 2 100% probably_damaging(0.999) tolerated(0.49) deleterious(0.501) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like RBMS1 5937 genome.wustl.edu 37 2 161169731 161169731 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016836.3 -1 reviewed p.P113H 1.000 49 0% 31 48.4% 13 46.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SLC4A10 57282 genome.wustl.edu 37 2 162815003 162815003 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022058.3 +1 reviewed p.P904S 1.000 787 0.1% 298 45.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp,PatternScan_HTH_ARAC_FAMILY_1 SLC4A10 57282 genome.wustl.edu 37 2 162821645 162821645 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022058.3 +1 reviewed p.E1011K 1.000 400 0% 176 36.4% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAP 2191 genome.wustl.edu 37 2 163055301 163055301 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004460.2 -1 reviewed p.S456 0.984 208 0% 91 47.3% 4 0% - - - HMMPfam_DPPIV_N,superfamily_SSF82171 FAP 2191 genome.wustl.edu 37 2 163070502 163070502 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004460.2 -1 reviewed p.S316 0.026 165 0% 67 38.8% 5 0% - - - HMMPfam_DPPIV_N,superfamily_SSF82171 KCNH7 90134 genome.wustl.edu 37 2 163253383 163253383 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033272.2 -1 reviewed p.A827V 1.000 260 0% 51 37.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like KCNH7 90134 genome.wustl.edu 37 2 163374308 163374308 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033272.2 -1 reviewed p.S275L 1.000 158 0% 40 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KCNH7 90134 genome.wustl.edu 37 2 163374592 163374592 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033272.2 -1 reviewed p.P180 0.041 119 0% 29 48.3% 0 - - - - NULL FIGN 55137 genome.wustl.edu 37 2 164467215 164467215 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018086.2 -1 validated p.F376C 1.000 115 0% 75 41.3% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GRB14 2888 genome.wustl.edu 37 2 165476243 165476243 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004490.2 -1 reviewed p.V93A 1.000 430 0% 245 38.4% 4 75% benign(0.415) tolerated(0.21) neutral(0.178) NULL GRB14 2888 genome.wustl.edu 37 2 165476263 165476263 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004490.2 -1 reviewed p.C86* 1.000 497 0% 264 47.7% 3 0% - - - NULL COBLL1 22837 genome.wustl.edu 37 2 165550941 165550941 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014900.3 -1 validated p.P1025 0.136 206 0% 89 42.7% 26 42.3% - - - NULL COBLL1 22837 genome.wustl.edu 37 2 165578655 165578655 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014900.3 -1 validated p.D309G 0.970 95 0% 55 49.1% 7 28.5% benign(0.009) tolerated(1) neutral(0.001) HMMPfam_Cobl SLC38A11 151258 genome.wustl.edu 37 2 165754980 165754980 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173512.1 -1 provisional p.Q374H 0.338 111 0% 39 56.4% 0 - benign(0.159) tolerated(0.17) neutral(0.073) NULL SLC38A11 151258 genome.wustl.edu 37 2 165796032 165796032 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173512.1 -1 provisional p.F77L 1.000 310 0% 79 41.8% 0 - benign(0) tolerated(0.93) - NULL SCN3A 6328 genome.wustl.edu 37 2 165947740 165947740 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006922.3 -1 reviewed p.I1641 1.000 174 0% 95 14.7% 1 0% - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 165987768 165987768 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006922.3 -1 reviewed p.R851* 0.847 161 0% 53 50.9% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 165997338 165997338 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006922.3 -1 reviewed p.P614 0.004 91 1.1% 41 56.1% 3 0% - - - NULL SCN2A 6326 genome.wustl.edu 37 2 166167048 166167048 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040142.1 +1 reviewed p.T305A 0.818 365 0% 104 52.9% 0 - benign(0.206) deleterious(0.03) neutral(0.385) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166170586 166170586 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040142.1 +1 reviewed p.E451K 1.000 173 0% 54 63% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL SCN2A 6326 genome.wustl.edu 37 2 166179835 166179835 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040142.1 +1 reviewed p.P614L 1.000 18 0% 15 26.7% 0 - benign(0.177) deleterious(0.02) neutral(0.400) NULL SCN2A 6326 genome.wustl.edu 37 2 166187855 166187855 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040142.1 +1 reviewed p.R722I 1.000 325 0% 102 11.8% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166211116 166211116 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040142.1 +1 reviewed p.S1112A 1.000 201 0% 90 45.6% 0 - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166246184 166246184 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040142.1 +1 reviewed p.E1956D 0.990 88 0% 28 39.3% 0 - benign(0.022) tolerated(0.14) neutral(0.251) NULL CSRNP3 80034 genome.wustl.edu 37 2 166535346 166535346 + Nonsense_Mutation SNP C C T rs186955356 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024969.3 +1 validated p.R281* 1.000 110 0% 43 53.5% 0 - - - - NULL GALNT3 2591 genome.wustl.edu 37 2 166615328 166615328 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004482.3 -1 reviewed p.F374L 1.000 498 0% 115 39.1% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases SCN1A 6323 genome.wustl.edu 37 2 166898845 166898845 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006920.4 -1 reviewed p.Q700 0.992 333 0% 147 38.8% 0 - - - - NULL SCN1A 6323 genome.wustl.edu 37 2 166900428 166900428 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006920.4 -1 reviewed p.F598 1.000 73 0% 46 37% 0 - - - - NULL SCN1A 6323 genome.wustl.edu 37 2 166904186 166904186 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006920.4 -1 reviewed p.S374F 1.000 288 0% 94 13.8% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Ion_trans,superfamily_SSF81324 SCN9A 6335 genome.wustl.edu 37 2 167055332 167055332 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002977.3 -1 reviewed p.E1928D 0.970 541 0% 248 43.5% 0 - benign(0.014) tolerated(0.27) neutral(0.034) NULL SCN9A 6335 genome.wustl.edu 37 2 167085303 167085303 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002977.3 -1 reviewed p.S1357 0.000 231 0% 135 34.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN9A 6335 genome.wustl.edu 37 2 167129146 167129146 + Silent SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002977.3 -1 reviewed p.I1027 0.485 571 0% 179 46.4% 0 - - - - HMMPfam_Na_trans_assoc SCN9A 6335 genome.wustl.edu 37 2 167143025 167143025 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002977.3 -1 reviewed p.E475* 1.000 141 0% 77 35.1% 0 - - - - NULL SCN9A 6335 genome.wustl.edu 37 2 167160829 167160829 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002977.3 -1 reviewed p.E203* 1.000 415 0% 151 42.4% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167262093 167262093 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002976.2 -1 validated p.I1682 0.000 459 0% 91 35.2% 0 - - - - NULL SCN7A 6332 genome.wustl.edu 37 2 167330355 167330355 + Missense_Mutation SNP C C T rs141810453 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002976.2 -1 validated p.V133I 0.013 131 0% 37 35.1% 0 - benign(0.001) tolerated(0.68) neutral(0.002) superfamily_Voltage-gated potassium channels XIRP2 129446 genome.wustl.edu 37 2 168098372 168098372 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152381.4 +1 validated p.K376N 0.013 266 0% 116 37.9% 0 - benign(0.005) tolerated(0.94) - NULL XIRP2 129446 genome.wustl.edu 37 2 168101108 168101108 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152381.4 +1 validated p.Y1069C 1.000 104 0% 49 36.7% 0 - probably_damaging(0.953) deleterious(0.03) deleterious(0.761) NULL XIRP2 129446 genome.wustl.edu 37 2 168104087 168104087 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152381.4 +1 validated p.T2062M 0.000 138 0% 44 45.5% 0 - benign(0) tolerated(0.14) neutral(0.249) NULL XIRP2 129446 genome.wustl.edu 37 2 168104626 168104626 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152381.4 +1 validated p.R2242W 0.984 139 0% 39 38.5% 0 - benign(0.189) deleterious(0) neutral(0.462) NULL XIRP2 129446 genome.wustl.edu 37 2 168104752 168104752 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152381.4 +1 validated p.E2284* 0.997 82 0% 29 48.3% 0 - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168106247 168106247 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152381.4 +1 validated p.V2782A 0.000 85 0% 20 40% 0 - benign(0.004) deleterious(0.04) neutral(0.349) NULL XIRP2 129446 genome.wustl.edu 37 2 168107319 168107319 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152381.4 +1 validated p.N3139 0.000 101 0% 32 34.4% 0 - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168114597 168114597 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079810.2 +1 validated p.L514S 0.000 121 0% 29 37.9% 0 - benign(0.008) deleterious(0.03) neutral(0.364) NULL CERS6 253782 genome.wustl.edu 37 2 169417815 169417815 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203463.1 +1 validated p.T130 0.014 134 0% 47 36.2% 17 52.9% - - - HMMSmart_HOX,HMMSmart_TLC,superfamily_Homeodomain_like ABCB11 8647 genome.wustl.edu 37 2 169792839 169792839 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003742.2 -1 reviewed p.L905 0.007 110 0% 66 34.8% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain LRP2 4036 genome.wustl.edu 37 2 169989157 169989157 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004525.2 -1 reviewed p.Y4552C 1.000 369 0% 142 11.3% 1 100% possibly_damaging(0.831) deleterious(0.01) deleterious(0.722) NULL LRP2 4036 genome.wustl.edu 37 2 170033019 170033019 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004525.2 -1 reviewed p.C3491 0.338 69 0% 65 40% 1 100% - - - HMMSmart_EGF LRP2 4036 genome.wustl.edu 37 2 170059306 170059306 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004525.2 -1 reviewed p.N2723 0.521 151 0% 98 48% 2 0% - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170062875 170062875 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004525.2 -1 reviewed p.S2452Y 0.003 141 0% 53 24.5% 0 - benign(0.001) tolerated(0.17) neutral(0.059) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170088338 170088338 + Missense_Mutation SNP C C T rs193082017 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004525.2 -1 reviewed p.A1705T 0.184 57 0% 33 57.6% 1 0% benign(0.002) tolerated(0.54) neutral(0.007) HMMSmart_EGF,superfamily_SSF57196 LRP2 4036 genome.wustl.edu 37 2 170096276 170096276 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004525.2 -1 reviewed p.S1352N 1.000 99 0% 61 50.8% 0 - probably_damaging(0.979) tolerated(0.18) deleterious(0.478) HMMSmart_EGF,superfamily_SSF57196 FASTKD1 79675 genome.wustl.edu 37 2 170411657 170411657 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024622.3 -1 validated p.A397 0.807 293 0% 131 44.3% 6 83.3% - - - NULL FASTKD1 79675 genome.wustl.edu 37 2 170428367 170428367 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024622.3 -1 validated p.R58I 0.985 349 0.3% 163 38.7% 4 75% possibly_damaging(0.464) tolerated(0.06) deleterious(0.475) NULL KLHL23 151230 genome.wustl.edu 37 2 170592000 170592000 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144711.4 +1 validated p.R159Q 1.000 118 0.8% 49 51% 5 60% benign(0.089) tolerated(0.3) neutral(0.035) HMMPfam_BACK UBR3 130507 genome.wustl.edu 37 2 170806378 170806378 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172070.3 +1 validated p.E1116D 1.000 258 0% 99 49.5% 8 50% benign(0.003) tolerated(0.4) neutral(0.016) NULL MYO3B 140469 genome.wustl.edu 37 2 171073877 171073877 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138995.3 +1 validated p.V192A 1.000 220 0% 99 44.4% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MYO3B 140469 genome.wustl.edu 37 2 171300522 171300522 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138995.3 +1 validated p.S899Y 1.000 275 0% 92 47.8% 0 - benign(0.244) deleterious(0.05) neutral(0.370) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases GAD1 2571 genome.wustl.edu 37 2 171710463 171710463 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000817.2 +1 reviewed p.T448 0.760 124 0% 86 51.2% 4 0% - - - HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases GAD1 2571 genome.wustl.edu 37 2 171713582 171713582 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000817.2 +1 reviewed p.L490I 1.000 218 0% 95 37.9% 4 100% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases METTL8 79828 genome.wustl.edu 37 2 172182564 172182564 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000375258 -1 known p.R319C 1.000 112 0% 43 37.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_S-adenosyl-L-methionine-dependent methyltransferases HAT1 8520 genome.wustl.edu 37 2 172809504 172809504 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003642.3 +1 reviewed p.N98K 0.991 364 0% 174 38.5% 72 41.6% benign(0) tolerated(1) - superfamily_Acyl_CoA_acyltransferase,HMMPfam_Hat1_N METAP1D 254042 genome.wustl.edu 37 2 172942555 172942555 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199227.1 +1 validated p.V245 1.000 248 0% 136 50% 1 0% - - - HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core DLX1 1745 genome.wustl.edu 37 2 172950525 172950525 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178120.4 +1 reviewed p.Y40 1.000 37 0% 49 51% 0 - - - - NULL ITGA6 3655 genome.wustl.edu 37 2 173340371 173340371 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079818.1 +1 reviewed p.I409 0.984 307 0% 153 45.8% 21 33.3% - - - HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain RAPGEF4 11069 genome.wustl.edu 37 2 173659858 173659858 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007023.3 +1 validated p.L57 0.989 412 0% 143 40.6% 0 - - - - HMMSmart_SM00100,superfamily_cAMP-binding domain-like ZAK 51776 genome.wustl.edu 37 2 173955878 173955878 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016653.2 +1 reviewed p.K40R 1.000 141 0% 68 42.6% 7 42.8% benign(0.351) tolerated(0.31) neutral(0.138) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) GPR155 151556 genome.wustl.edu 37 2 175335123 175335123 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033045.2 -1 validated p.E341* 1.000 101 0% 58 50% 2 0% - - - HMMPfam_Mem_trans GPR155 151556 genome.wustl.edu 37 2 175346343 175346343 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033045.2 -1 validated p.F114L 1.000 225 0% 102 38.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mem_trans ENSG00000206965 0 genome.wustl.edu 37 2 175422797 175422797 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000384238 -1 known NULL 0.002 199 0.5% 44 40.9% 1 100% - - - - WIPF1 7456 genome.wustl.edu 37 2 175437036 175437036 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077269.1 -1 reviewed p.R166M 1.000 26 0% 20 20% 17 0% probably_damaging(0.991) tolerated(0.1) deleterious(0.730) NULL EVX2 344191 genome.wustl.edu 37 2 176948177 176948177 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080458.1 -1 reviewed p.A110T 1.000 12 0% 22 40.9% 0 - benign(0) tolerated(1) - NULL HOXD13 3239 genome.wustl.edu 37 2 176958341 176958341 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000523.3 +1 reviewed p.Q241H 1.000 6 0.000 8 0.500 0 - benign(0.378) deleterious(0.01) deleterious(0.526) NULL HOXD11 3237 genome.wustl.edu 37 2 176973688 176973688 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021192.2 +1 reviewed p.R279C 1.000 60 0% 37 51.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like MIR10B 406903 genome.wustl.edu 37 2 177015087 177015087 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000385011 +1 known NULL 0.924 185 0% 95 32.6% 0 - - - - - HOXD3 3232 genome.wustl.edu 37 2 177036313 177036313 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006898.4 +1 reviewed p.A204T 1.000 23 0% 24 50% 0 - possibly_damaging(0.93) deleterious(0) deleterious(0.821) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like HOXD3 3232 genome.wustl.edu 37 2 177036975 177036975 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006898.4 +1 reviewed p.P424 1.000 9 0.000 11 0.545 0 - - - - NULL TTC30B 150737 genome.wustl.edu 37 2 178415661 178415661 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152517.2 -1 validated p.E611* 1.000 390 0% 205 40.5% 7 71.4% - - - NULL TTC30B 150737 genome.wustl.edu 37 2 178416954 178416954 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152517.2 -1 validated p.A180T 0.996 49 0% 45 17.8% 2 50% possibly_damaging(0.819) deleterious(0.02) deleterious(0.693) HMMSmart_SM00028,superfamily_TPR-like TTC30A 92104 genome.wustl.edu 37 2 178482542 178482542 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152275.3 -1 validated p.M296I 1.000 63 0% 55 41.8% 4 50% benign(0.003) tolerated(0.65) neutral(0.003) superfamily_SSF48452 PDE11A 50940 genome.wustl.edu 37 2 178936253 178936253 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016953.3 -1 reviewed p.Q304H 1.000 27 0% 18 55.6% 2 0% benign(0.257) deleterious(0.01) neutral(0.432) HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like TTN 7273 genome.wustl.edu 37 2 179395348 179395348 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.F32762V 1.000 285 0% 135 44.4% 0 - benign(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179397318 179397318 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133378.4 -1 reviewed p.E32107* 1.000 72 0% 55 36.4% 0 - benign(0.252) - - NULL TTN 7273 genome.wustl.edu 37 2 179399908 179399908 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.T31242A 0.999 194 0% 64 40.6% 0 - benign(0.026) - - NULL TTN 7273 genome.wustl.edu 37 2 179403847 179403847 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.T30369S 1.000 215 0% 65 13.8% 7 14.2% possibly_damaging(0.804) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179404950 179404950 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.T30078N 1.000 422 0% 129 41.9% 2 50% probably_damaging(0.974) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179408335 179408335 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.V29552A 1.000 111 0% 41 34.1% 6 66.6% benign(0.266) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179413213 179413213 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.R28477Q 1.000 37 0% 23 34.8% 1 100% probably_damaging(0.995) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179421791 179421791 + Missense_Mutation SNP C C A rs183013408 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.G26794C 1.000 114 0% 30 36.7% 0 - probably_damaging(1) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179429983 179429983 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.G24389D 1.000 203 0% 51 56.9% 0 - probably_damaging(0.998) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179431579 179431579 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.D23857G 1.000 42 0% 18 38.9% 0 - possibly_damaging(0.888) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179434059 179434059 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133378.4 -1 reviewed p.T23032I 0.998 140 0% 50 28% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179436430 179436430 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.G22240E 0.997 134 0% 51 56.9% 0 - probably_damaging(1) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179437060 179437060 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.G22030D 1.000 109 0% 44 54.5% 0 - probably_damaging(1) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179437141 179437141 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.C22003Y 1.000 180 0.6% 53 52.8% 2 100% probably_damaging(0.997) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179439855 179439855 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.K21098N 0.966 113 0% 41 39% 0 - possibly_damaging(0.928) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179441340 179441340 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.E20641K 1.000 170 0% 70 32.9% 5 80% possibly_damaging(0.789) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179443598 179443598 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.A20150V 1.000 83 0% 38 52.6% 1 0% possibly_damaging(0.612) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179451259 179451259 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.G18887* 1.000 88 0% 33 42.4% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179458071 179458071 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.S17052P 1.000 190 0% 40 47.5% 0 - possibly_damaging(0.539) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179458352 179458352 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.L16989 1.000 217 0% 60 26.7% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179468771 179468771 + Missense_Mutation SNP G G A rs187167219 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.R15647C 1.000 109 0% 48 47.9% 0 - possibly_damaging(0.737) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179469898 179469898 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.K15434N 1.000 108 0% 26 50% 1 0% benign(0.099) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179472399 179472399 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.V15104 1.000 170 0% 54 44.4% 0 - - - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179473404 179473404 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.V14877A 1.000 235 0% 45 42.2% 0 - possibly_damaging(0.737) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179477244 179477244 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.L14102V 1.000 440 0% 108 24.1% 1 100% benign(0.014) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179481260 179481260 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.P13518 0.116 219 0% 59 40.7% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179484366 179484366 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.A12992S 1.000 227 0% 63 47.6% 1 100% benign(0.099) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179499456 179499456 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.V11481I 0.993 258 0% 95 17.9% 0 - possibly_damaging(0.496) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179560665 179560665 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.D9134 0.946 674 0% 328 40.9% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179560832 179560832 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.E9079K 0.154 670 0.1% 327 46.2% 0 - unknown(0) deleterious(0) - NULL TTN 7273 genome.wustl.edu 37 2 179567299 179567299 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.D8861 0.890 164 0% 84 35.7% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179577204 179577204 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.G7905S 1.000 146 0% 39 12.8% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179588843 179588843 + Missense_Mutation SNP C C T rs148072021 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.R5804Q 1.000 110 0% 25 56% 0 - unknown(0) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179596077 179596077 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.N4562H 1.000 141 0% 33 39.4% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179600448 179600448 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356127 -1 known p.C3665R 1.000 271 0% 87 37.9% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179606596 179606596 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000342175 -1 known p.E3617D 0.164 235 0% 50 34% 0 - benign(0.099) - - NULL TTN 7273 genome.wustl.edu 37 2 179606598 179606598 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000342175 -1 known p.E3617K 0.284 223 0% 50 58% 0 - possibly_damaging(0.539) - - NULL TTN 7273 genome.wustl.edu 37 2 179610831 179610831 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133379.3 -1 reviewed p.E5432 0.302 167 0% 21 71.4% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179614763 179614763 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133379.3 -1 reviewed p.E4122K 0.863 229 0% 43 44.2% 0 - benign(0.003) tolerated(0.79) neutral(0.001) NULL TTN 7273 genome.wustl.edu 37 2 179615383 179615383 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133379.3 -1 reviewed p.R3915Q 0.003 229 0% 39 33.3% 0 - benign(0.002) tolerated(0.13) neutral(0.253) NULL TTN 7273 genome.wustl.edu 37 2 179616550 179616550 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133379.3 -1 reviewed p.R3526I 0.131 170 0% 50 22% 0 - benign(0.35) tolerated(0.07) neutral(0.430) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179622314 179622314 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000359218 -1 known p.A3499T 1.000 67 1.5% 21 66.7% 0 - benign(0.29) - - HMMSmart_SM00408,HMMSmart_SM00409 TTN 7273 genome.wustl.edu 37 2 179629332 179629332 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133379.3 -1 reviewed p.E3304* 1.000 67 0% 25 32% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179639042 179639042 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133379.3 -1 reviewed p.R2317C 1.000 189 0% 78 51.3% 0 - possibly_damaging(0.535) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179640497 179640497 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133379.3 -1 reviewed p.R2032G 0.604 343 0% 132 10.6% 0 - benign(0.075) - - NULL TTN 7273 genome.wustl.edu 37 2 179640648 179640648 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133379.3 -1 reviewed p.R1981 1.000 213 0% 88 43.2% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179642188 179642188 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133379.3 -1 reviewed p.R1535M 1.000 161 0% 60 11.7% 0 - benign(0.014) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 CCDC141 285025 genome.wustl.edu 37 2 179732751 179732751 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173648.2 -1 provisional e5+2 1.000 84 0% 45 46.7% 0 - - - - - SESTD1 91404 genome.wustl.edu 37 2 179988537 179988537 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178123.4 -1 validated p.G396D 1.000 141 0% 61 34.4% 18 44.4% possibly_damaging(0.477) tolerated(0.56) neutral(0.164) NULL ZNF385B 151126 genome.wustl.edu 37 2 180309623 180309623 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152520.4 -1 validated p.R393W 1.000 262 0% 187 43.9% 22 9% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZNF385B 151126 genome.wustl.edu 37 2 180634389 180634389 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152520.4 -1 validated p.L32I 1.000 74 0% 65 43.1% 1 100% probably_damaging(0.99) tolerated(0.13) deleterious(0.694) HMMSmart_SM00451 CERKL 375298 genome.wustl.edu 37 2 182430197 182430197 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001030311.2 -1 reviewed p.Q240* 0.000 210 0% 55 52.7% 0 - - - - HMMPfam_DAGK_cat SSFA2 6744 genome.wustl.edu 37 2 182786708 182786708 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130445.1 +1 validated p.K1082E 1.000 58 0% 24 54.2% 274 51.8% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL PDE1A 5136 genome.wustl.edu 37 2 183104955 183104955 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005019.3 -1 validated p.R94W 0.997 457 0.7% 245 50.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I_N NCKAP1 10787 genome.wustl.edu 37 2 183847630 183847630 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_205842.1 -1 validated p.S382F 1.000 175 0% 55 38.2% 101 42.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nckap1 NCKAP1 10787 genome.wustl.edu 37 2 183859610 183859610 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_205842.1 -1 validated p.P255 1.000 363 0% 144 43.1% 95 55.7% - - - HMMPfam_Nckap1 ZNF804A 91752 genome.wustl.edu 37 2 185801937 185801937 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194250.1 +1 provisional p.H605R 0.985 38 0% 16 62.5% 0 - benign(0.004) deleterious(0.01) neutral(0.406) NULL FSIP2 401024 genome.wustl.edu 37 2 186670377 186670377 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000424728 +1 known p.D5448 0.000 269 0% 57 45.6% 0 - - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186673524 186673524 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000424728 +1 known p.F6497 0.000 95 0% 16 43.8% 0 - - - - NULL ITGAV 3685 genome.wustl.edu 37 2 187531510 187531510 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002210.3 +1 reviewed p.S749I 1.000 189 0% 73 39.7% 11 36.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Integrin_alpha2,superfamily_Integrin domains GULP1 51454 genome.wustl.edu 37 2 189434799 189434799 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000451191 +1 known p.Y12C 0.838 257 0% 65 43.1% 8 87.5% - - - NULL DIRC1 116093 genome.wustl.edu 37 2 189599579 189599579 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052952.2 -1 validated p.K23N 0.000 134 0% 59 50.8% 0 - unknown(0) - - NULL COL3A1 1281 genome.wustl.edu 37 2 189855058 189855058 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000090.3 +1 reviewed p.P257H 1.000 461 0% 110 51.8% 100 3% unknown(0) deleterious(0.03) - HMMPfam_Collagen COL3A1 1281 genome.wustl.edu 37 2 189868189 189868189 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000090.3 +1 reviewed p.P869H 1.000 294 0% 133 36.8% 128 0.7% unknown(0) deleterious(0) - HMMPfam_Collagen WDR75 84128 genome.wustl.edu 37 2 190327259 190327259 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032168.1 +1 provisional p.R276 0.000 150 0% 61 14.8% 25 20% - - - HMMSmart_WD40,superfamily_WD40_like ANKAR 150709 genome.wustl.edu 37 2 190611161 190611161 + Silent SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144708.3 +1 validated p.T1300 1.000 156 0% 54 24.1% 0 - - - - NULL ANKAR 150709 genome.wustl.edu 37 2 190611212 190611212 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144708.3 +1 validated p.K1317N 0.340 185 0% 62 48.4% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL INPP1 3628 genome.wustl.edu 37 2 191235593 191235593 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128928.1 +1 reviewed p.G222D 1.000 50 0% 28 53.6% 19 57.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase MFSD6 54842 genome.wustl.edu 37 2 191301084 191301084 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017694.3 +1 validated p.R110H 0.993 118 0% 64 43.8% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter TMEM194B 100131211 genome.wustl.edu 37 2 191379213 191379213 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142645.1 -1 validated p.H307Y 0.000 41 0% 32 40.6% 4 25% benign(0.282) deleterious(0.05) neutral(0.432) HMMPfam_DUF2215 STAT1 6772 genome.wustl.edu 37 2 191859864 191859864 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007315.3 -1 reviewed p.Y289 0.114 270 0% 107 46.7% 41 19.5% - - - HMMPfam_STAT_alpha,superfamily_STAT STAT1 6772 genome.wustl.edu 37 2 191859931 191859931 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007315.3 -1 reviewed p.A267V 0.999 192 0% 94 19.1% 38 13.1% possibly_damaging(0.827) deleterious(0) deleterious(0.758) HMMPfam_STAT_alpha,superfamily_STAT STAT4 6775 genome.wustl.edu 37 2 192011431 192011431 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003151.2 -1 reviewed p.L61 0.995 307 0% 129 31% 0 - - - - HMMPfam_STAT_int,superfamily_STAT MYO1B 4430 genome.wustl.edu 37 2 192228519 192228519 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130158.1 +1 validated p.A277 0.000 127 0% 37 32.4% 30 40% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1B 4430 genome.wustl.edu 37 2 192248063 192248063 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130158.1 +1 validated p.E450K 1.000 287 0% 122 41% 26 73% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1B 4430 genome.wustl.edu 37 2 192255135 192255135 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130158.1 +1 validated p.A633 1.000 75 0% 33 27.3% 35 17.1% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases OBFC2A 64859 genome.wustl.edu 37 2 192548521 192548521 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031716.2 +1 validated p.Q123H 0.998 425 0% 204 36.3% 10 0% possibly_damaging(0.941) deleterious(0.01) deleterious(0.792) NULL SDPR 8436 genome.wustl.edu 37 2 192711197 192711197 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004657.5 -1 reviewed p.R152H 1.000 10 0% 22 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SDPR 8436 genome.wustl.edu 37 2 192711274 192711274 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004657.5 -1 reviewed p.R126 0.963 22 0% 38 47.4% 1 0% - - - NULL SLC39A10 57181 genome.wustl.edu 37 2 196545420 196545420 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127257.1 +1 validated p.N218 1.000 86 0% 45 15.6% 12 0% - - - NULL SLC39A10 57181 genome.wustl.edu 37 2 196599650 196599650 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127257.1 +1 validated p.G794D 1.000 316 0% 170 42.9% 16 31.2% benign(0.039) deleterious(0.03) neutral(0.366) HMMPfam_Zip DNAH7 56171 genome.wustl.edu 37 2 196642627 196642627 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018897.2 -1 validated p.T3654M 1.000 166 0% 84 39.3% 1 0% possibly_damaging(0.925) deleterious(0.02) deleterious(0.756) HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196673491 196673491 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018897.2 -1 validated p.R3333Q 0.999 372 0% 127 21.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196726647 196726647 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018897.2 -1 validated p.Q2510H 0.235 152 0% 71 36.6% 0 - benign(0) tolerated(0.15) neutral(0.241) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196749333 196749333 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018897.2 -1 validated p.I1913M 0.997 235 0.4% 102 49% 0 - benign(0.404) deleterious(0) deleterious(0.575) NULL HECW2 57520 genome.wustl.edu 37 2 197080668 197080668 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020760.1 -1 provisional p.G1510R 1.000 148 0.7% 58 51.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECW2 57520 genome.wustl.edu 37 2 197086997 197086997 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020760.1 -1 provisional p.D1362N 1.000 119 0% 51 49% 2 0% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECW2 57520 genome.wustl.edu 37 2 197105187 197105187 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020760.1 -1 provisional p.F1250 0.977 325 0% 138 38.4% 3 0% - - - HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECW2 57520 genome.wustl.edu 37 2 197183832 197183832 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020760.1 -1 provisional p.A594 0.001 25 0% 23 47.8% 0 - - - - NULL GTF3C3 9330 genome.wustl.edu 37 2 197636654 197636654 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012086.2 -1 provisional p.V693A 1.000 154 0% 87 49.4% 25 60% benign(0.196) deleterious(0.02) neutral(0.402) superfamily_TPR-like PGAP1 80055 genome.wustl.edu 37 2 197781163 197781163 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024989.3 -1 validated p.K152N 1.000 218 0% 88 51.1% 2 50% benign(0.361) tolerated(0.18) neutral(0.171) HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases ANKRD44 91526 genome.wustl.edu 37 2 197866551 197866551 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153697.1 -1 provisional p.C762 1.000 300 0% 107 23.4% 3 0% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SF3B1 23451 genome.wustl.edu 37 2 198285114 198285114 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000487698 -1 known p.I151M 0.999 172 0% 94 53.2% 10 40% benign(0.001) deleterious(0.02) neutral(0.383) NULL SF3B1 23451 genome.wustl.edu 37 2 198285841 198285841 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012433.2 -1 reviewed p.S71L 1.000 171 0% 95 36.8% 109 50.4% possibly_damaging(0.626) tolerated(0.22) neutral(0.260) NULL COQ10B 80219 genome.wustl.edu 37 2 198324780 198324780 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025147.3 +1 provisional p.E77* 1.000 307 0.3% 128 41.4% 9 22.2% - - - NULL HSPE1 3336 genome.wustl.edu 37 2 198367769 198367769 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002157.2 +1 reviewed p.E59K 1.000 476 0% 346 12.4% 770 16.3% benign(0) tolerated(0.82) neutral(0.001) HMMPfam_Cpn10,superfamily_GroES-like RFTN2 130132 genome.wustl.edu 37 2 198508980 198508980 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144629.2 -1 validated p.A114T 0.523 356 0% 182 51.1% 0 - benign(0.016) tolerated(0.92) neutral(0.001) NULL MARS2 92935 genome.wustl.edu 37 2 198571806 198571806 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138395.2 +1 validated p.G559 0.879 42 0% 38 47.4% 10 70% - - - superfamily_tRNAsyn_1a_bind PLCL1 5334 genome.wustl.edu 37 2 198949647 198949647 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006226.3 +1 validated p.R371Q 0.993 173 0% 59 37.3% 0 - benign(0.056) tolerated(0.23) neutral(0.045) HMMPfam_PI-PLC-X,HMMSmart_PLCXc,superfamily_PLC-like_Pdiesterase_TIM-brl PLCL1 5334 genome.wustl.edu 37 2 198950055 198950055 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006226.3 +1 validated p.K507T 1.000 112 0% 59 13.6% 0 - benign(0.001) tolerated(0.37) neutral(0.019) HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl SATB2 23314 genome.wustl.edu 37 2 200137387 200137387 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015265.3 -1 reviewed p.H583 0.302 44 0% 30 43.3% 4 25% - - - NULL SPATS2L 26010 genome.wustl.edu 37 2 201334702 201334702 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100422.1 +1 validated p.I341 0.999 96 0% 79 60.8% 43 53.4% - - - HMMPfam_DUF1387 SPATS2L 26010 genome.wustl.edu 37 2 201342362 201342362 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100422.1 +1 validated p.G429R 1.000 109 0% 58 51.7% 44 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SGOL2 151246 genome.wustl.edu 37 2 201436742 201436742 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152524.5 +1 validated p.I558S 0.003 115 0% 40 45% 1 100% benign(0.244) tolerated(0.21) neutral(0.069) NULL SGOL2 151246 genome.wustl.edu 37 2 201437877 201437877 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152524.5 +1 validated p.S936R 0.004 59 0% 14 50% 5 40% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL AOX1 316 genome.wustl.edu 37 2 201480751 201480751 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001159.3 +1 reviewed p.H557N 0.003 339 0% 122 47.5% 0 - benign(0.02) tolerated(0.36) neutral(0.021) superfamily_CO dehydrogenase molybdoprotein N-domain-like AOX1 316 genome.wustl.edu 37 2 201499608 201499608 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001159.3 +1 reviewed p.Y772 0.961 198 0% 52 34.6% 2 0% - - - HMMPfam_Ald_Xan_dh_C2,superfamily_Molybdenum cofactor-binding domain AOX1 316 genome.wustl.edu 37 2 201507473 201507473 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001159.3 +1 reviewed p.T932 0.685 82 0% 38 36.8% 1 100% - - - HMMPfam_Ald_Xan_dh_C2,superfamily_Molybdenum cofactor-binding domain AOX1 316 genome.wustl.edu 37 2 201523952 201523952 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001159.3 +1 reviewed p.T1079I 1.000 98 0% 51 54.9% 0 - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) HMMPfam_Ald_Xan_dh_C2,superfamily_Molybdenum cofactor-binding domain AOX1 316 genome.wustl.edu 37 2 201524748 201524748 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001159.3 +1 reviewed p.E1111K 0.909 279 0% 85 12.9% 2 50% benign(0.004) tolerated(0.28) neutral(0.032) HMMPfam_Ald_Xan_dh_C2,superfamily_Molybdenum cofactor-binding domain BZW1 9689 genome.wustl.edu 37 2 201683615 201683615 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000359893 +1 known p.S69N 1.000 100 0% 67 49.3% 62 50% - - - HMMPfam_W2,HMMSmart_SM00515,superfamily_ARM repeat ENSG00000207116 0 genome.wustl.edu 37 2 201694753 201694753 + RNA SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000384388 +1 novel NULL 0.003 189 0% 89 14.6% 1 0% - - - - CLK1 1195 genome.wustl.edu 37 2 201718641 201718641 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004071.3 -1 reviewed p.R432 0.998 143 0% 50 50% 45 42.2% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FAM126B 285172 genome.wustl.edu 37 2 201862215 201862215 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173822.3 -1 validated p.V193 1.000 181 0% 79 13.9% 2 100% - - - HMMPfam_Hyccin CASP8 841 genome.wustl.edu 37 2 202131315 202131315 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080125.1 +1 reviewed p.E95* 1.000 120 0% 70 37.1% 5 60% - - - HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain TRAK2 66008 genome.wustl.edu 37 2 202257694 202257694 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015049.2 -1 validated p.R351C 1.000 400 0% 125 49.6% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HAP1_N ALS2CR11 151254 genome.wustl.edu 37 2 202356525 202356525 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000439140 -1 known p.Q1513 0.018 402 0% 225 47.1% 0 - - - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202357560 202357560 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000439140 -1 known p.G1168 0.993 93 0% 39 51.3% 0 - - - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202358276 202358276 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000439140 -1 known p.I930L 0.982 163 0% 69 55.1% 0 - possibly_damaging(0.568) - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202469389 202469389 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152525.5 -1 validated p.S88I 0.086 489 0% 196 41.8% 0 - possibly_damaging(0.852) deleterious(0.01) deleterious(0.733) NULL CDK15 65061 genome.wustl.edu 37 2 202672677 202672677 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139158.1 +1 provisional e2+2 1.000 103 0% 65 41.5% 0 - - - - - CDK15 65061 genome.wustl.edu 37 2 202700373 202700373 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139158.1 +1 provisional p.A195 1.000 60 0% 30 63.3% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FZD7 8324 genome.wustl.edu 37 2 202900538 202900538 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003507.1 +1 reviewed p.A390T 1.000 13 0% 18 50% 16 31.2% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Frizzled BMPR2 659 genome.wustl.edu 37 2 203242263 203242263 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001204.6 +1 reviewed p.S22 1.000 37 0% 35 45.7% 5 80% - - - NULL BMPR2 659 genome.wustl.edu 37 2 203383555 203383555 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001204.6 +1 reviewed p.R211Q 1.000 138 0% 113 48.7% 19 78.9% benign(0.107) tolerated(1) neutral(0.009) superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase BMPR2 659 genome.wustl.edu 37 2 203384858 203384858 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001204.6 +1 reviewed p.S301A 1.000 270 0% 143 46.9% 12 41.6% benign(0.273) tolerated(0.09) neutral(0.326) superfamily_Kinase_like,HMMPfam_Pkinase BMPR2 659 genome.wustl.edu 37 2 203420619 203420619 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001204.6 +1 reviewed p.P744L 1.000 88 0% 48 27.1% 22 36.3% probably_damaging(0.953) deleterious(0.02) deleterious(0.780) NULL ALS2CR8 79800 genome.wustl.edu 37 2 203807664 203807664 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001104586.1 +1 validated p.S94P 0.935 121 0% 57 40.4% 1 100% benign(0) tolerated(0.22) neutral(0.042) NULL NBEAL1 65065 genome.wustl.edu 37 2 203933115 203933115 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114132.1 +1 validated e6-1 1.000 384 0.3% 200 43% 0 - - - - - NBEAL1 65065 genome.wustl.edu 37 2 204034491 204034491 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114132.1 +1 validated p.R1978* 1.000 320 0.6% 109 42.2% 2 0% - - - superfamily_BEACH domain,superfamily_PH domain-like RAPH1 65059 genome.wustl.edu 37 2 204322267 204322267 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213589.1 -1 validated p.E382* 1.000 570 0% 248 49.6% 3 66.6% - - - NULL RAPH1 65059 genome.wustl.edu 37 2 204354748 204354748 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213589.1 -1 validated p.E97 1.000 208 0% 110 12.7% 8 50% - - - NULL CTLA4 1493 genome.wustl.edu 37 2 204736211 204736211 + Splice_Site SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005214.3 +1 reviewed e3+1 1.000 376 0% 170 50% 0 - - - - - PARD3B 117583 genome.wustl.edu 37 2 206480223 206480223 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152526.4 +1 validated p.R1040W 1.000 47 0% 36 41.7% 3 66.6% possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL NRP2 8828 genome.wustl.edu 37 2 206548051 206548051 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201266.1 +1 reviewed p.L13F 0.999 281 0% 184 41.3% 24 50% possibly_damaging(0.822) deleterious(0.01) deleterious(0.717) NULL INO80D 54891 genome.wustl.edu 37 2 206870221 206870221 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017759.4 -1 validated p.A652D 1.000 67 0% 41 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL INO80D 54891 genome.wustl.edu 37 2 206921224 206921224 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017759.4 -1 validated p.P221H 1.000 110 0% 87 40.2% 2 50% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL INO80D 54891 genome.wustl.edu 37 2 206927770 206927770 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017759.4 -1 validated e1-1 1.000 139 0% 65 41.5% 0 - - - - - NDUFS1 4719 genome.wustl.edu 37 2 207006672 207006672 + Nonsense_Mutation SNP G G A rs186057450 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005006.5 -1 reviewed p.R419* 1.000 142 0% 77 44.2% 31 9.6% - - - HMMPfam_Molybdopterin,superfamily_SSF53706 NDUFS1 4719 genome.wustl.edu 37 2 207012475 207012475 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005006.5 -1 reviewed e5+2 1.000 114 0% 73 45.2% 0 - - - - - ZDBF2 57683 genome.wustl.edu 37 2 207171914 207171914 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020923.1 +1 validated p.E888* 0.000 132 2.3% 44 45.5% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207175008 207175008 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020923.1 +1 validated p.R1919H 0.183 71 0% 33 51.5% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL ADAM23 8745 genome.wustl.edu 37 2 207482322 207482322 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003812.2 +1 reviewed p.F824L 1.000 115 0% 44 36.4% 1 0% possibly_damaging(0.643) tolerated(0.79) neutral(0.227) NULL CPO 130749 genome.wustl.edu 37 2 207827303 207827303 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173077.2 +1 validated p.Y248H 1.000 210 0% 78 12.8% 0 - benign(0.111) tolerated(0.13) neutral(0.261) HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 PLEKHM3 389072 genome.wustl.edu 37 2 208773240 208773240 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080475.2 -1 validated p.Q650* 1.000 86 0% 52 42.3% 0 - - - - NULL PLEKHM3 389072 genome.wustl.edu 37 2 208841985 208841985 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000447645 -1 known p.R64W 0.000 94 0% 70 48.6% 1 0% - - - NULL CRYGC 1420 genome.wustl.edu 37 2 208994334 208994334 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020989.3 -1 reviewed p.P28L 0.998 58 0% 45 60% 0 - benign(0.302) tolerated(0.13) neutral(0.346) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like IDH1 3417 genome.wustl.edu 37 2 209113152 209113152 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005896.2 -1 reviewed p.R119W 1.000 172 0% 89 40.4% 100 59% possibly_damaging(0.819) deleterious(0.02) deleterious(0.693) HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like IDH1 3417 genome.wustl.edu 37 2 209116255 209116255 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005896.2 -1 reviewed p.G7 0.003 97 0% 68 30.9% 88 50% - - - superfamily_Isocitrate/Isopropylmalate dehydrogenase-like PIKFYVE 200576 genome.wustl.edu 37 2 209189703 209189703 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015040.3 +1 reviewed p.T800 0.830 294 0% 102 46.1% 6 50% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like PIKFYVE 200576 genome.wustl.edu 37 2 209190652 209190652 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015040.3 +1 reviewed p.K1039 1.000 159 0% 58 39.7% 5 80% - - - NULL MAP2 4133 genome.wustl.edu 37 2 210558460 210558460 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002374.3 +1 reviewed p.T522 0.001 110 0% 34 11.8% 3 0% - - - HMMPfam_MAP2_projctn UNC80 285175 genome.wustl.edu 37 2 210640615 210640615 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032504.1 +1 validated p.S48 0.999 44 0% 26 61.5% 0 - - - - NULL UNC80 285175 genome.wustl.edu 37 2 210678405 210678405 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032504.1 +1 validated p.G347D 1.000 86 0% 56 16.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UNC80 285175 genome.wustl.edu 37 2 210696271 210696271 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032504.1 +1 validated p.R911C 1.000 97 0% 31 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UNC80 285175 genome.wustl.edu 37 2 210696303 210696303 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032504.1 +1 validated p.S921 0.997 77 0% 27 70.4% 0 - - - - NULL UNC80 285175 genome.wustl.edu 37 2 210752861 210752861 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032504.1 +1 validated p.R1387W 1.000 51 0% 28 50% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UNC80 285175 genome.wustl.edu 37 2 210822448 210822448 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032504.1 +1 validated p.G2447V 1.000 110 0% 44 43.2% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL UNC80 285175 genome.wustl.edu 37 2 210834581 210834581 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032504.1 +1 validated p.H2633R 1.000 159 0% 74 48.6% 0 - probably_damaging(0.959) tolerated(0.34) neutral(0.426) NULL KANSL1L 151050 genome.wustl.edu 37 2 210887849 210887849 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152519.2 -1 validated p.L930V 0.998 342 0% 148 41.2% 16 43.7% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL ACADL 33 genome.wustl.edu 37 2 211081232 211081232 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001608.3 -1 reviewed p.A125 1.000 227 0% 90 46.7% 13 38.4% - - - HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM MYL1 4632 genome.wustl.edu 37 2 211179738 211179738 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_079420.2 -1 reviewed p.P10H 0.987 69 0% 47 53.2% 0 - unknown(0) deleterious(0) - NULL ERBB4 2066 genome.wustl.edu 37 2 212285330 212285330 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005235.2 -1 reviewed p.D991N 1.000 192 0% 109 25.7% 5 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Protein kinase-like (PK-like) ERBB4 2066 genome.wustl.edu 37 2 212426803 212426803 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005235.2 -1 reviewed p.I771T 1.000 61 0% 51 45.1% 5 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ERBB4 2066 genome.wustl.edu 37 2 212537910 212537910 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000260943 -1 known p.A565V 0.002 75 0% 23 43.5% 2 0% - - - HMMSmart_SM00261,superfamily_Growth factor receptor domain ERBB4 2066 genome.wustl.edu 37 2 212543838 212543838 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005235.2 -1 reviewed p.L521M 1.000 69 0% 42 42.9% 3 100% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_SM00261,superfamily_Growth factor receptor domain ERBB4 2066 genome.wustl.edu 37 2 212543846 212543846 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005235.2 -1 reviewed p.D518G 1.000 68 0% 49 46.9% 3 0% possibly_damaging(0.475) tolerated(0.54) neutral(0.164) HMMSmart_SM00261,superfamily_Growth factor receptor domain,superfamily_L domain-like SPAG16 79582 genome.wustl.edu 37 2 215013954 215013954 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024532.3 +1 validated p.P562S 1.000 166 0% 58 34.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00320,superfamily_WD40 repeat-like BARD1 580 genome.wustl.edu 37 2 215609821 215609821 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000465.2 -1 reviewed p.L625I 1.000 372 0% 157 42% 11 27.2% possibly_damaging(0.713) tolerated(0.08) deleterious(0.557) HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT ABCA12 26154 genome.wustl.edu 37 2 215855642 215855642 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173076.2 -1 reviewed p.G1136 1.000 103 0% 70 50% 1 100% - - - NULL ABCA12 26154 genome.wustl.edu 37 2 215914500 215914500 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173076.2 -1 reviewed p.R181 0.950 167 0% 32 59.4% 0 - - - - NULL ATIC 471 genome.wustl.edu 37 2 216211546 216211546 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004044.6 +1 reviewed p.A462V 1.000 136 0% 61 42.6% 87 2.2% possibly_damaging(0.458) tolerated(0.09) neutral(0.447) HMMPfam_AICARFT_IMPCHas,HMMSmart_AICARFT_IMPCHas,superfamily_AICARFT_IMPCHas_formly FN1 2335 genome.wustl.edu 37 2 216240400 216240400 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_212482.1 -1 reviewed p.L1977 0.019 191 0% 85 42.4% 253 28.8% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III XRCC5 7520 genome.wustl.edu 37 2 217055059 217055059 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021141.3 +1 reviewed e17+2 0.996 226 0.4% 95 46.3% 0 - - - - - SMARCAL1 50485 genome.wustl.edu 37 2 217297463 217297463 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127207.1 +1 reviewed p.R453C 1.000 18 0% 13 46.2% 14 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 RPL37A 6168 genome.wustl.edu 37 2 217364099 217364099 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000998.4 +1 reviewed p.Y37S 1.000 78 0% 39 41% 3790 45% benign(0.23) deleterious(0) neutral(0.468) HMMPfam_Ribosomal_L37ae,superfamily_Zn-binding ribosomal proteins TNS1 7145 genome.wustl.edu 37 2 218682756 218682756 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022648.4 -1 reviewed p.P1329 0.433 25 0% 22 68.2% 16 43.7% - - - NULL TNS1 7145 genome.wustl.edu 37 2 218683450 218683450 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022648.4 -1 reviewed p.S1098N 1.000 7 0.000 17 0.471 11 27.2% benign(0.002) deleterious(0) neutral(0.445) NULL TNS1 7145 genome.wustl.edu 37 2 218700855 218700855 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022648.4 -1 reviewed p.E904D 1.000 22 0% 20 35% 5 20% benign(0.021) tolerated(0.23) neutral(0.043) NULL RUFY4 285180 genome.wustl.edu 37 2 218938091 218938091 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000374155 +1 known p.A171V 0.988 40 0% 35 51.4% 1 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL GPBAR1 151306 genome.wustl.edu 37 2 219128048 219128048 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077191.1 +1 reviewed p.R201W 0.219 4 0.000 13 0.308 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AAMP 14 genome.wustl.edu 37 2 219131258 219131258 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001087.3 -1 reviewed p.G196D 1.000 10 0% 12 41.7% 182 47.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like PNKD 25953 genome.wustl.edu 37 2 219209224 219209224 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015488.4 +1 reviewed p.E305 1.000 42 0% 46 47.8% 17 52.9% - - - superfamily_Metallo-hydrolase/oxidoreductase PNKD 25953 genome.wustl.edu 37 2 219209648 219209648 + Silent SNP C C A rs185906233 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015488.4 +1 reviewed p.R368 1.000 9 0.000 11 0.455 9 44.4% - - - superfamily_Metallo-hydrolase/oxidoreductase BCS1L 617 genome.wustl.edu 37 2 219526921 219526921 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000436603 +1 known p.A1V 0.999 188 0.5% 134 12.7% 46 19.5% unknown(0) - - NULL STK36 27148 genome.wustl.edu 37 2 219563961 219563961 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015690.3 +1 validated p.E1232K 0.997 9 0.000 17 0.294 34 52.9% benign(0.066) tolerated(0.08) neutral(0.304) superfamily_ARM repeat TTLL4 9654 genome.wustl.edu 37 2 219602570 219602570 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014640.4 +1 validated p.K57N 0.979 41 0% 15 53.3% 4 25% possibly_damaging(0.842) deleterious(0.03) deleterious(0.686) NULL TTLL4 9654 genome.wustl.edu 37 2 219617619 219617619 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014640.4 +1 validated p.R1037H 1.000 344 0.9% 160 41.2% 18 27.7% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL CYP27A1 1593 genome.wustl.edu 37 2 219677061 219677061 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000784.3 +1 reviewed p.R188Q 0.027 47 0% 56 42.9% 9 55.5% benign(0.354) tolerated(0.14) neutral(0.361) HMMPfam_p450,superfamily_Cytochrome P450 CYP27A1 1593 genome.wustl.edu 37 2 219677656 219677656 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000784.3 +1 reviewed p.L285R 0.999 72 0% 54 48.1% 5 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_p450,superfamily_Cytochrome P450 CRYBA2 1412 genome.wustl.edu 37 2 219855055 219855055 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005209.1 -1 reviewed p.S171 0.179 24 0% 20 30% 0 - - - - HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like CCDC108 255101 genome.wustl.edu 37 2 219900166 219900166 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152389.2 -1 provisional p.S128N 0.000 193 0% 139 39.6% 0 - unknown(0) deleterious(0.04) - NULL ZFAND2B 130617 genome.wustl.edu 37 2 220072443 220072443 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138802.1 +1 provisional p.A75V 0.994 40 2.5% 41 53.7% 21 38% benign(0) tolerated(0.61) neutral(0.004) NULL ATG9A 79065 genome.wustl.edu 37 2 220088370 220088370 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000409033 -1 known p.R493C 0.015 23 0% 22 50% 47 44.6% benign(0.231) deleterious(0) neutral(0.468) NULL ANKZF1 55139 genome.wustl.edu 37 2 220097079 220097079 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042410.1 +1 validated p.S120F 0.516 141 0% 90 45.6% 27 74% unknown(0) deleterious(0.05) - NULL TUBA4A 7277 genome.wustl.edu 37 2 220115406 220115406 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006000.1 -1 reviewed p.R339C 1.000 16 0% 36 38.9% 51 27.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C TUBA4A 7277 genome.wustl.edu 37 2 220115736 220115736 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006000.1 -1 reviewed p.R229C 1.000 95 0% 94 47.9% 49 61.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like TUBA4A 7277 genome.wustl.edu 37 2 220116329 220116329 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006000.1 -1 reviewed p.G111 1.000 105 0% 94 44.7% 21 19% - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like TUBA4A 7277 genome.wustl.edu 37 2 220116818 220116818 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006000.1 -1 reviewed p.D46 0.116 57 1.8% 69 50.7% 37 29.7% - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like SPEG 10290 genome.wustl.edu 37 2 220309806 220309806 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000451076 +1 known p.G97R 1.000 8 0.000 4 1.000 0 - - - - NULL SPEG 10290 genome.wustl.edu 37 2 220346085 220346085 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005876.4 +1 validated p.R1810Q 0.913 71 0% 50 42% 0 - benign(0.028) tolerated(0.2) neutral(0.051) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GMPPA 29926 genome.wustl.edu 37 2 220366688 220366688 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013335.2 +1 reviewed p.D120N 0.998 49 0% 45 28.9% 53 33.9% benign(0.062) tolerated(0.24) neutral(0.041) HMMPfam_NTP_transferase,superfamily_Nucleotide-diphospho-sugar transferases ASIC4 55515 genome.wustl.edu 37 2 220396798 220396798 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018674.4 +1 reviewed p.G395E 1.000 17 0% 20 55% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ASC ASIC4 55515 genome.wustl.edu 37 2 220397649 220397649 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018674.4 +1 reviewed p.D482Y 0.999 69 0% 83 49.4% 1 100% possibly_damaging(0.819) tolerated(0.11) deleterious(0.581) HMMPfam_ASC OBSL1 23363 genome.wustl.edu 37 2 220416329 220416329 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015311.2 -1 reviewed p.D1869N 0.805 10 0% 17 41.2% 12 25% possibly_damaging(0.472) tolerated(0.59) neutral(0.161) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 OBSL1 23363 genome.wustl.edu 37 2 220428163 220428163 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015311.2 -1 reviewed p.V865A 1.000 16 0% 23 26.1% 164 41.4% probably_damaging(0.979) deleterious(0.04) deleterious(0.771) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 OBSL1 23363 genome.wustl.edu 37 2 220428201 220428201 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015311.2 -1 reviewed p.F852 0.001 29 0% 31 83.9% 170 99.4% - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 SLC4A3 6508 genome.wustl.edu 37 2 220494904 220494904 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201574.2 +1 validated p.R241Q 0.571 6 0.000 7 0.714 0 - probably_damaging(0.994) tolerated(0.38) deleterious(0.470) NULL SLC4A3 6508 genome.wustl.edu 37 2 220502528 220502528 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201574.2 +1 validated p.G948S 1.000 28 0% 25 56% 5 40% benign(0.07) tolerated(0.08) neutral(0.305) HMMPfam_HCO3_cotransp PAX3 5077 genome.wustl.edu 37 2 223066722 223066722 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181459.2 -1 reviewed p.S454I 1.000 135 0% 55 38.2% 0 - benign(0.099) deleterious(0) neutral(0.452) NULL PAX3 5077 genome.wustl.edu 37 2 223066853 223066853 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181459.2 -1 reviewed p.Y410 0.517 85 0% 29 24.1% 0 - - - - NULL PAX3 5077 genome.wustl.edu 37 2 223084945 223084945 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181459.2 -1 reviewed p.F363I 1.000 171 0% 53 37.7% 0 - possibly_damaging(0.832) deleterious(0) deleterious(0.762) NULL SGPP2 130367 genome.wustl.edu 37 2 223339408 223339408 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152386.2 +1 provisional p.D114G 0.998 350 0% 193 38.3% 21 38% probably_damaging(0.977) deleterious(0) deleterious(0.863) superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase SCG2 7857 genome.wustl.edu 37 2 224462304 224462304 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003469.3 -1 reviewed p.S566I 0.973 189 0% 115 43.5% 0 - possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) HMMPfam_Granin WDFY1 57590 genome.wustl.edu 37 2 224746674 224746674 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020830.3 -1 reviewed p.S350F 1.000 165 0% 66 37.9% 23 26% benign(0.372) deleterious(0.03) deleterious(0.483) HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger,superfamily_WD40 repeat-like SERPINE2 5270 genome.wustl.edu 37 2 224862930 224862930 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136530.1 -1 validated p.N142S 1.000 166 0% 103 45.6% 41 56% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINE2 5270 genome.wustl.edu 37 2 224866484 224866484 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136530.1 -1 validated p.S57L 0.150 81 0% 48 52.1% 25 52% benign(0.196) deleterious(0.02) neutral(0.402) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CUL3 8452 genome.wustl.edu 37 2 225346644 225346644 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003590.3 -1 validated p.F665Y 1.000 526 0% 177 45.8% 72 41.6% benign(0.396) tolerated(0.09) neutral(0.423) HMMPfam_Cullin,superfamily_Cullin homology domain CUL3 8452 genome.wustl.edu 37 2 225370832 225370832 + Missense_Mutation SNP C C A rs17408251 byCluster TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003590.3 -1 validated p.K349N 1.000 162 0.6% 63 44.4% 45 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin,superfamily_Cullin repeat CUL3 8452 genome.wustl.edu 37 2 225379337 225379337 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003590.3 -1 validated p.V177 0.997 314 0% 170 41.8% 34 32.3% - - - HMMPfam_Cullin,superfamily_Cullin repeat DOCK10 55619 genome.wustl.edu 37 2 225669928 225669928 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014689.2 -1 validated p.S1349L 1.000 140 0% 34 47.1% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL IRS1 3667 genome.wustl.edu 37 2 227662473 227662473 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005544.2 -1 reviewed p.A328T 0.997 9 0.000 10 0.500 10 30% benign(0.2) tolerated(1) neutral(0.019) NULL COL4A4 1286 genome.wustl.edu 37 2 227967860 227967860 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000092.4 -1 reviewed p.K290N 1.000 93 0% 40 45% 0 - probably_damaging(0.962) tolerated(0.4) neutral(0.421) NULL COL4A3 1285 genome.wustl.edu 37 2 228173982 228173982 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000091.3 +1 reviewed p.P1568H 1.000 101 0% 48 43.8% 0 - unknown(0) deleterious(0) - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like WDR69 164781 genome.wustl.edu 37 2 228783505 228783505 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178821.1 +1 provisional p.R328I 1.000 230 0% 98 43.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SPHKAP 80309 genome.wustl.edu 37 2 228846557 228846557 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142644.1 -1 validated p.L1660P 1.000 71 0% 20 65% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) HMMPfam_AKAP_110 SPHKAP 80309 genome.wustl.edu 37 2 228881235 228881235 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142644.1 -1 validated p.P1445 0.000 92 0% 51 49% 0 - - - - NULL SPHKAP 80309 genome.wustl.edu 37 2 228881784 228881784 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142644.1 -1 validated p.G1262 0.997 26 0% 21 57.1% 0 - - - - NULL SPHKAP 80309 genome.wustl.edu 37 2 228881883 228881883 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142644.1 -1 validated p.R1229 0.898 8 0.000 15 0.267 0 - - - - NULL SPHKAP 80309 genome.wustl.edu 37 2 228882999 228882999 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142644.1 -1 validated p.S857 0.000 139 0% 91 37.4% 0 - - - - NULL DNER 92737 genome.wustl.edu 37 2 230231694 230231694 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139072.3 -1 validated p.R666H 1.000 26 0% 24 16.7% 1 0% benign(0.093) deleterious(0) neutral(0.452) NULL DNER 92737 genome.wustl.edu 37 2 230253101 230253101 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139072.3 -1 validated p.D579N 1.000 47 0% 18 55.6% 1 0% benign(0.275) tolerated(0.26) neutral(0.064) HMMSmart_EGF,superfamily_SSF57196 TRIP12 9320 genome.wustl.edu 37 2 230632389 230632389 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004238.1 -1 provisional p.P1954S 1.000 277 0% 117 41% 89 50.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT TRIP12 9320 genome.wustl.edu 37 2 230632422 230632422 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004238.1 -1 provisional p.F1943L 1.000 278 0% 120 45% 92 40.2% benign(0.061) tolerated(0.75) neutral(0.005) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT TRIP12 9320 genome.wustl.edu 37 2 230693987 230693987 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004238.1 -1 provisional p.G410S 1.000 154 0% 54 61.1% 33 48.4% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL SLC16A14 151473 genome.wustl.edu 37 2 230911237 230911237 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152527.4 -1 validated p.L202P 1.000 24 0% 24 45.8% 13 38.4% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SP140 11262 genome.wustl.edu 37 2 231118044 231118044 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007237.4 +1 validated p.S357 0.012 389 0% 113 36.3% 0 - - - - NULL SP100 6672 genome.wustl.edu 37 2 231406036 231406036 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000431952 +1 known p.E158K 0.994 274 0.4% 87 44.8% 1 0% - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain SP100 6672 genome.wustl.edu 37 2 231407615 231407615 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080391.1 +1 validated p.I871S 0.666 343 0% 83 41% 1 0% possibly_damaging(0.67) deleterious(0.01) deleterious(0.643) HMMSmart_SM00297,superfamily_Bromodomain HTR2B 3357 genome.wustl.edu 37 2 231988275 231988275 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000867.4 -1 validated p.T68 0.976 307 0% 122 24.6% 0 - - - - superfamily_Family A G protein-coupled receptor-like LINC00471 151477 genome.wustl.edu 37 2 232373953 232373953 + RNA SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_024079.1 -1 predicted NULL 0.001 279 0% 177 45.2% 0 - - - - - DIS3L2 129563 genome.wustl.edu 37 2 233195482 233195482 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152383.4 +1 validated p.M669R 1.000 43 2.3% 43 39.5% 21 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNB ALPP 250 genome.wustl.edu 37 2 233244269 233244269 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001632.3 +1 reviewed p.T119M 0.997 13 0% 26 42.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,superfamily_Alkaline_phosphatase_core,PatternScan_ALKALINE_PHOSPHATASE ALPP 250 genome.wustl.edu 37 2 233244997 233244997 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001632.3 +1 reviewed p.K253 0.510 52 0% 45 15.6% 1 0% - - - HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,superfamily_Alkaline_phosphatase_core ALPPL2 251 genome.wustl.edu 37 2 233272321 233272321 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031313.2 +1 reviewed p.K106 1.000 11 0% 19 52.6% 0 - - - - HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,superfamily_Alkaline_phosphatase_core ALPI 248 genome.wustl.edu 37 2 233321171 233321171 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001631.3 +1 reviewed p.G60 0.002 25 0% 29 51.7% 0 - - - - HMMPfam_Alk_phosphatase,HMMSmart_SM00098,superfamily_Alkaline phosphatase-like ALPI 248 genome.wustl.edu 37 2 233322798 233322798 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001631.3 +1 reviewed p.R316H 0.000 46 0% 68 36.8% 0 - benign(0.018) tolerated(0.17) neutral(0.059) HMMPfam_Alk_phosphatase,HMMSmart_SM00098,superfamily_Alkaline phosphatase-like ALPI 248 genome.wustl.edu 37 2 233322929 233322929 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001631.3 +1 reviewed p.G332S 1.000 23 0% 37 48.6% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Alk_phosphatase,HMMSmart_SM00098,superfamily_Alkaline phosphatase-like CHRND 1144 genome.wustl.edu 37 2 233394809 233394809 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441621 +1 known p.L224F 1.000 69 0% 57 14% 0 - unknown(0) - - NULL CHRNG 1146 genome.wustl.edu 37 2 233409159 233409159 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005199.4 +1 reviewed p.R373Q 0.000 17 0% 11 72.7% 0 - benign(0.026) tolerated(0.51) neutral(0.010) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM EFHD1 80303 genome.wustl.edu 37 2 233546354 233546354 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025202.3 +1 validated p.E215D 0.989 46 0% 35 54.3% 5 20% possibly_damaging(0.708) tolerated(0.18) neutral(0.311) NULL GIGYF2 26058 genome.wustl.edu 37 2 233625223 233625223 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001103147.1 +1 reviewed p.R138I 1.000 618 0% 298 38.6% 16 56.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SAG 6295 genome.wustl.edu 37 2 234227486 234227486 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000415974 +1 known p.D76N 0.001 322 0% 235 41.3% 0 - unknown(0) deleterious(0.01) - NULL DGKD 8527 genome.wustl.edu 37 2 234343074 234343074 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152879.2 +1 reviewed p.E133* 1.000 287 0% 172 49.4% 12 33.3% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like DGKD 8527 genome.wustl.edu 37 2 234344500 234344500 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152879.2 +1 reviewed p.R208H 1.000 28 0% 42 52.4% 11 9% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain USP40 55230 genome.wustl.edu 37 2 234394540 234394540 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018218.2 -1 validated p.A1105V 0.005 15 0% 20 60% 9 44.4% benign(0.059) deleterious(0) neutral(0.449) NULL USP40 55230 genome.wustl.edu 37 2 234399885 234399885 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000430158 -1 known p.R155H 0.000 35 0% 18 33.3% 10 10% - - - NULL USP40 55230 genome.wustl.edu 37 2 234442252 234442252 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018218.2 -1 validated p.H459Q 1.000 464 0% 161 43.5% 6 50% benign(0.275) deleterious(0) deleterious(0.474) HMMPfam_UCH,superfamily_Cysteine proteinases UGT1A6 54578 genome.wustl.edu 37 2 234601779 234601779 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001072.3 +1 reviewed p.K43N 0.977 69 0% 40 45% 0 - possibly_damaging(0.562) tolerated(0.06) deleterious(0.514) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase HJURP 55355 genome.wustl.edu 37 2 234749873 234749873 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018410.3 -1 validated p.S518I 0.000 251 0% 184 38.6% 24 54.1% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL TRPM8 79054 genome.wustl.edu 37 2 234854661 234854661 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024080.4 +1 validated p.E287 1.000 74 0% 33 30.3% 0 - - - - NULL TRPM8 79054 genome.wustl.edu 37 2 234869688 234869688 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024080.4 +1 validated p.D544G 0.984 62 0% 39 48.7% 1 100% benign(0.056) tolerated(0.38) neutral(0.021) NULL ASB18 401036 genome.wustl.edu 37 2 237103670 237103670 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_212556.2 -1 provisional p.A416T 0.000 55 0% 31 32.3% 0 - possibly_damaging(0.901) tolerated(0.28) neutral(0.388) NULL IQCA1 79781 genome.wustl.edu 37 2 237276882 237276882 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024726.3 -1 provisional p.L542M 0.949 54 0% 36 47.2% 0 - benign(0.005) tolerated(0.22) neutral(0.042) superfamily_P-loop containing nucleoside triphosphate hydrolases COL6A3 1293 genome.wustl.edu 37 2 238234251 238234251 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004369.3 -1 reviewed p.E3149K 0.659 417 0% 186 47.3% 70 0% unknown(0) - - HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like COL6A3 1293 genome.wustl.edu 37 2 238242185 238242185 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004369.3 -1 reviewed p.S3079Y 0.008 132 0% 75 46.7% 54 0% unknown(0) - - NULL COL6A3 1293 genome.wustl.edu 37 2 238243485 238243485 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004369.3 -1 reviewed p.A3005T 0.998 55 0% 45 42.2% 43 0% unknown(0) - - superfamily_Fibronectin type III COL6A3 1293 genome.wustl.edu 37 2 238249704 238249704 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004369.3 -1 reviewed p.D2619N 1.000 33 0% 33 39.4% 45 0% probably_damaging(1) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238275470 238275470 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004369.3 -1 reviewed p.G1787E 0.004 37 0% 38 42.1% 27 0% unknown(0) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238280468 238280468 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004369.3 -1 reviewed p.P1398S 0.999 35 0% 30 46.7% 32 3.1% probably_damaging(1) tolerated(0.61) deleterious(0.504) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238289734 238289734 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004369.3 -1 reviewed p.R574I 0.305 26 0% 13 69.2% 13 0% probably_damaging(0.986) tolerated(0.14) deleterious(0.684) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like MLPH 79083 genome.wustl.edu 37 2 238449009 238449009 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024101.5 +1 reviewed p.R375C 0.003 23 0% 27 59.3% 12 66.6% possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) NULL LRRFIP1 9208 genome.wustl.edu 37 2 238647880 238647880 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001137550.1 +1 validated p.S187 0.998 25 0% 16 50% 0 - - - - HMMPfam_DUF2051 LRRFIP1 9208 genome.wustl.edu 37 2 238672066 238672066 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001137552.1 +1 validated p.K570 1.000 112 0% 73 41.1% 21 57.1% - - - NULL LRRFIP1 9208 genome.wustl.edu 37 2 238672109 238672109 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001137552.1 +1 validated p.V585I 0.002 167 0% 106 43.4% 18 44.4% possibly_damaging(0.882) deleterious(0.03) deleterious(0.709) NULL SCLY 51540 genome.wustl.edu 37 2 238991733 238991733 + Silent SNP C C T rs2243417 byCluster;byFrequency;by2Hit2Allele;byHapMap;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000431487 +1 known p.C138 0.000 46 0% 37 40.5% 1 0% unknown(0) deleterious(0.02) - NULL PER2 8864 genome.wustl.edu 37 2 239170883 239170883 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022817.2 -1 reviewed p.N419S 1.000 90 0% 53 35.8% 8 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain) ASB1 51665 genome.wustl.edu 37 2 239353134 239353134 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040445.1 +1 reviewed p.A216T 1.000 27 0% 30 23.3% 16 81.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK HDAC4 9759 genome.wustl.edu 37 2 240005918 240005918 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006037.3 -1 reviewed p.S817Y 1.000 11 0% 13 46.2% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase HDAC4 9759 genome.wustl.edu 37 2 240066293 240066293 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006037.3 -1 reviewed p.P284L 0.998 52 0% 47 10.6% 7 14.2% possibly_damaging(0.805) tolerated(0.41) neutral(0.318) NULL HDAC4 9759 genome.wustl.edu 37 2 240066379 240066379 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006037.3 -1 reviewed p.R255 1.000 61 0% 43 23.3% 7 14.2% - - - NULL ENSG00000196758 0 genome.wustl.edu 37 2 240500416 240500416 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000358775 +1 known p.S99 0.000 60 0% 64 39.1% 0 - - - - NULL OR6B2 389090 genome.wustl.edu 37 2 240969149 240969149 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005853.1 -1 provisional p.G233D 0.079 83 0% 65 44.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PRR21 643905 genome.wustl.edu 37 2 240981403 240981403 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080835.1 -1 provisional p.R333W 0.000 211 0% 218 44% 0 - possibly_damaging(0.737) tolerated(0.05) deleterious(0.615) NULL OR6B3 150681 genome.wustl.edu 37 2 240984596 240984596 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173351.1 -1 provisional p.K298N 0.010 118 0% 67 47.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF81321 MYEOV2 150678 genome.wustl.edu 37 2 241066179 241066179 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138336.1 -1 validated p.R187Q 0.000 419 0.2% 300 15% 0 - unknown(0) - - NULL MYEOV2 150678 genome.wustl.edu 37 2 241073419 241073419 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138336.1 -1 validated p.G54* 0.999 110 0% 101 11.9% 171 8.7% - - - NULL ANKMY1 51281 genome.wustl.edu 37 2 241452263 241452263 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016552.2 -1 validated p.D612N 0.967 29 0% 24 25% 7 14.2% probably_damaging(0.999) tolerated(0.8) deleterious(0.491) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat RNPEPL1 57140 genome.wustl.edu 37 2 241513741 241513741 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018226.3 +1 provisional p.R153C 1.000 8 0.000 11 0.455 90 47.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M1,superfamily_SSF55486 KIF1A 547 genome.wustl.edu 37 2 241660449 241660449 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004321.4 -1 reviewed p.E1483K 1.000 15 0% 14 35.7% 0 - possibly_damaging(0.806) tolerated(0.19) neutral(0.353) NULL AGXT 189 genome.wustl.edu 37 2 241815400 241815400 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000030.2 +1 reviewed p.S275R 0.999 36 0% 31 35.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases SNED1 25992 genome.wustl.edu 37 2 241969869 241969869 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080437.1 +1 provisional p.R128C 0.424 31 0% 41 29.3% 3 66.6% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00539 SNED1 25992 genome.wustl.edu 37 2 242004357 242004357 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080437.1 +1 provisional p.G899 0.997 14 0% 11 45.5% 1 0% - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin PASK 23178 genome.wustl.edu 37 2 242051742 242051742 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015148.2 -1 validated p.S1149L 0.999 47 0% 33 42.4% 14 28.5% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PASK 23178 genome.wustl.edu 37 2 242051816 242051816 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015148.2 -1 validated p.I1124 0.980 74 0% 49 40.8% 10 30% - - - HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PASK 23178 genome.wustl.edu 37 2 242054745 242054745 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015148.2 -1 validated p.E1052D 1.000 176 0% 112 49.1% 7 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ANO7 50636 genome.wustl.edu 37 2 242144365 242144365 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001891.3 +1 validated p.I379M 0.083 34 0% 44 47.7% 0 - benign(0.022) tolerated(0.14) neutral(0.251) NULL HDLBP 3069 genome.wustl.edu 37 2 242189381 242189381 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005336.3 -1 validated p.D463Y 1.000 55 0% 41 43.9% 250 26.4% possibly_damaging(0.626) deleterious(0) deleterious(0.662) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 HDLBP 3069 genome.wustl.edu 37 2 242192416 242192416 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005336.3 -1 validated p.D443G 1.000 66 0% 49 42.9% 181 21.5% probably_damaging(0.988) tolerated(0.08) deleterious(0.738) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 HDLBP 3069 genome.wustl.edu 37 2 242194839 242194839 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005336.3 -1 validated p.R344* 0.986 104 0% 74 36.5% 120 3.3% - - - HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 HDLBP 3069 genome.wustl.edu 37 2 242196185 242196185 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005336.3 -1 validated p.R163C 1.000 408 0.2% 290 51.7% 161 26.7% possibly_damaging(0.9) deleterious(0) deleterious(0.801) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 FARP2 9855 genome.wustl.edu 37 2 242402790 242402790 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000422951 +1 known p.R14* 0.301 56 0% 37 51.4% 8 37.5% benign(0.429) deleterious(0.01) deleterious(0.545) superfamily_DBL homology domain (DH-domain) FARP2 9855 genome.wustl.edu 37 2 242403360 242403360 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014808.2 +1 validated p.G620R 1.000 81 0% 78 37.2% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ATG4B 23192 genome.wustl.edu 37 2 242590697 242590697 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013325.4 +1 reviewed p.S44Y 0.994 347 0% 223 48.4% 40 47.5% possibly_damaging(0.628) deleterious(0.01) deleterious(0.625) HMMPfam_Peptidase_C54 ATG4B 23192 genome.wustl.edu 37 2 242606097 242606097 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013325.4 +1 reviewed p.A192 0.000 13 0% 14 28.6% 85 41.1% - - - HMMPfam_Peptidase_C54 PDCD1 5133 genome.wustl.edu 37 2 242794104 242794104 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000343705 -1 known p.P100T 0.051 18 0% 19 52.6% 1 0% - - - NULL CHL1 10752 genome.wustl.edu 37 3 402102 402102 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006614.2 +1 reviewed p.V434A 0.711 192 0% 85 49.4% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00409,superfamily_Immunoglobulin CHL1 10752 genome.wustl.edu 37 3 423894 423894 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006614.2 +1 reviewed p.S637T 1.000 165 0% 58 51.7% 0 - possibly_damaging(0.93) tolerated(1) neutral(0.377) HMMSmart_SM00060,superfamily_Fibronectin type III CNTN6 27255 genome.wustl.edu 37 3 1371511 1371511 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014461.2 +1 reviewed p.S419Y 0.427 397 0% 73 38.4% 0 - possibly_damaging(0.463) deleterious(0.01) deleterious(0.557) HMMPfam_I-set,superfamily_SSF48726 CNTN4 152330 genome.wustl.edu 37 3 3097837 3097837 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175607.1 +1 reviewed p.S1005L 0.990 190 0% 84 33.3% 0 - benign(0) tolerated(0.24) neutral(0.037) NULL IL5RA 3568 genome.wustl.edu 37 3 3137048 3137048 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000564.3 -1 reviewed p.A264T 0.977 353 0.3% 169 11.8% 0 - benign(0.049) tolerated(0.77) neutral(0.004) superfamily_Fibronectin type III LRRN1 57633 genome.wustl.edu 37 3 3887506 3887506 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020873.5 +1 validated p.P394L 1.000 54 0% 28 28.6% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMSmart_LRRCT,superfamily_SSF52058 SUMF1 285362 genome.wustl.edu 37 3 4459714 4459714 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182760.3 -1 reviewed p.C235 0.865 38 0% 22 40.9% 23 26% - - - HMMPfam_DUF323 ITPR1 3708 genome.wustl.edu 37 3 4716773 4716773 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099952.2 +1 reviewed p.L874I 1.000 359 0% 172 34.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITPR1 3708 genome.wustl.edu 37 3 4767256 4767256 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356617 +1 known p.N1717 0.988 87 0% 55 49.1% 0 - - - - NULL GRM7 2917 genome.wustl.edu 37 3 6903501 6903501 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181874.2 +1 reviewed p.P142 0.516 44 0% 39 53.8% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 GRM7 2917 genome.wustl.edu 37 3 7188341 7188341 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181874.2 +1 reviewed p.I241T 1.000 63 0% 21 66.7% 0 - possibly_damaging(0.551) tolerated(0.34) neutral(0.210) HMMPfam_ANF_receptor,superfamily_SSF53822 SETD5 55209 genome.wustl.edu 37 3 9506118 9506118 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080517.1 +1 provisional p.S829N 1.000 101 0% 57 33.3% 36 47.2% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL CPNE9 151835 genome.wustl.edu 37 3 9768870 9768870 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153635.2 +1 validated p.Q492H 1.000 56 0% 54 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_VWA,superfamily_SSF53300 CPNE9 151835 genome.wustl.edu 37 3 9771302 9771302 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153635.2 +1 validated p.R530C 1.000 28 0% 33 36.4% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL BRPF1 7862 genome.wustl.edu 37 3 9787380 9787380 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003694.1 +1 reviewed p.G1064 0.990 10 0% 28 28.6% 16 43.7% - - - NULL TTLL3 26140 genome.wustl.edu 37 3 9854635 9854635 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001025930.2 +1 provisional p.K19N 1.000 26 0% 32 56.2% 11 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FANCD2 2177 genome.wustl.edu 37 3 10085213 10085213 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033084.3 +1 reviewed p.L345 0.822 362 0% 148 35.1% 7 42.8% - - - NULL FANCD2 2177 genome.wustl.edu 37 3 10106495 10106495 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033084.3 +1 reviewed p.L702 0.383 95 0% 62 19.4% 11 18.1% - - - NULL GHRL 51738 genome.wustl.edu 37 3 10331784 10331784 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016362.3 -1 reviewed p.F27 1.000 11 0% 19 36.8% 2 50% - - - HMMPfam_Motilin_ghrelin GHRL 51738 genome.wustl.edu 37 3 10331837 10331837 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016362.3 -1 reviewed p.L10I 1.000 19 0% 11 45.5% 1 0% possibly_damaging(0.666) tolerated(0.44) neutral(0.248) NULL GHRLOS 100126793 genome.wustl.edu 37 3 10334515 10334515 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_004431.2 +1 validated NULL 0.098 23 0% 20 40% 5 0% - - - - GHRLOS 100126793 genome.wustl.edu 37 3 10334703 10334703 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_004431.2 +1 validated NULL 0.000 44 0% 26 38.5% 0 - - - - - ATP2B2 491 genome.wustl.edu 37 3 10444026 10444026 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001331.2 -1 reviewed p.A135V 0.954 23 0% 24 29.2% 0 - benign(0) tolerated(0.6) neutral(0.004) superfamily_Calcium ATPase transmembrane domain M SLC6A11 6538 genome.wustl.edu 37 3 10970992 10970992 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014229.1 +1 provisional p.I446 1.000 134 0% 118 41.5% 0 - - - - HMMPfam_SNF SLC6A1 6529 genome.wustl.edu 37 3 11059010 11059010 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003042.3 +1 validated p.A38V 0.441 17 0% 16 37.5% 0 - benign(0.019) deleterious(0) neutral(0.446) NULL HRH1 3269 genome.wustl.edu 37 3 11301478 11301478 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000861.3 +1 reviewed p.G252V 0.001 70 0% 56 55.4% 2 50% benign(0.174) deleterious(0.01) neutral(0.422) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HRH1 3269 genome.wustl.edu 37 3 11301951 11301951 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000861.3 +1 reviewed p.E410K 1.000 108 0% 81 42% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like VGLL4 9686 genome.wustl.edu 37 3 11643325 11643325 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128219.1 -1 validated p.R85H 1.000 48 0% 20 30% 92 46.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYN2 6854 genome.wustl.edu 37 3 12211360 12211360 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000341648 +1 known p.T352I 1.000 36 0% 19 21.1% 1 0% possibly_damaging(0.923) tolerated(0.3) neutral(0.401) NULL SYN2 6854 genome.wustl.edu 37 3 12228926 12228926 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000341648 +1 known p.R407Q 0.982 6 0.000 11 0.636 0 - unknown(0) tolerated(0.58) - NULL MKRN2 23609 genome.wustl.edu 37 3 12618191 12618191 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014160.3 +1 provisional p.D307Y 1.000 284 0.4% 158 44.9% 14 57.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF57850 MKRN2 23609 genome.wustl.edu 37 3 12623314 12623314 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014160.3 +1 provisional p.A326P 0.908 146 0% 58 12.1% 14 21.4% benign(0.007) tolerated(0.31) neutral(0.027) HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF57850 RAF1 5894 genome.wustl.edu 37 3 12633274 12633274 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002880.3 -1 reviewed p.I376L 1.000 130 0% 55 41.8% 61 40.9% benign(0) tolerated(0.29) neutral(0.029) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAND2 23066 genome.wustl.edu 37 3 12854865 12854865 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012298.2 +1 validated p.E235D 0.998 161 0.6% 130 43.8% 6 83.3% benign(0.002) tolerated(0.71) neutral(0.002) superfamily_ARM-type_fold IQSEC1 9922 genome.wustl.edu 37 3 12977154 12977154 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000450726 -1 known p.*469R 0.050 51 0% 41 36.6% 16 50% - - - NULL TMEM43 79188 genome.wustl.edu 37 3 14183232 14183232 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024334.2 +1 reviewed p.A380 0.003 31 0% 42 64.3% 40 47.5% - - - NULL GRIP2 80852 genome.wustl.edu 37 3 14552769 14552769 + Missense_Mutation SNP G G A rs143935537 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080423.1 -1 provisional p.R711C 1.000 53 0% 62 46.8% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like C3orf20 84077 genome.wustl.edu 37 3 14724532 14724532 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032137.4 +1 validated p.R104 0.000 36 0% 45 15.6% 0 - - - - NULL C3orf20 84077 genome.wustl.edu 37 3 14798997 14798997 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032137.4 +1 validated p.V687G 0.798 8 0.000 15 0.400 0 - possibly_damaging(0.692) deleterious(0.02) deleterious(0.631) NULL C3orf20 84077 genome.wustl.edu 37 3 14801404 14801404 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032137.4 +1 validated p.Y751H 0.450 37 0% 23 30.4% 0 - benign(0) tolerated(1) - NULL FGD5 152273 genome.wustl.edu 37 3 14860649 14860649 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152536.3 +1 validated p.S24I 0.090 18 0% 16 25% 0 - possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL ZFYVE20 64145 genome.wustl.edu 37 3 15126301 15126301 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022340.2 -1 validated p.R180H 1.000 48 0% 51 56.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FYVE,HMMSmart_FYVE,superfamily_FYVE_PHD_ZnF CAPN7 23473 genome.wustl.edu 37 3 15262462 15262462 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014296.2 +1 reviewed p.Y204 0.876 70 0% 41 56.1% 8 75% - - - superfamily_SSF54001 COLQ 8292 genome.wustl.edu 37 3 15493164 15493164 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005677.3 -1 reviewed p.R452H 1.000 45 0% 28 21.4% 0 - probably_damaging(1) - - NULL HACL1 26061 genome.wustl.edu 37 3 15624452 15624452 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012260.2 -1 validated p.T200I 0.001 111 0% 43 48.8% 13 53.8% benign(0.001) tolerated(0.28) neutral(0.032) superfamily_SSF52467 BTD 686 genome.wustl.edu 37 3 15686858 15686858 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000060.2 +1 reviewed p.F499L 0.071 67 0% 41 43.9% 3 33.3% benign(0) tolerated(0.42) neutral(0.014) NULL ANKRD28 23243 genome.wustl.edu 37 3 15736308 15736308 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015199.2 -1 provisional p.S537A 1.000 322 0.3% 132 40.9% 10 50% benign(0.001) tolerated(0.44) neutral(0.013) HMMPfam_Ank,superfamily_Ankyrin repeat GALNTL2 117248 genome.wustl.edu 37 3 16216751 16216751 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_054110.4 +1 validated p.A31 0.048 46 0% 37 48.6% 0 - - - - NULL GALNTL2 117248 genome.wustl.edu 37 3 16216808 16216808 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_054110.4 +1 validated p.K50 0.004 51 2% 52 46.2% 0 - - - - NULL DAZL 1618 genome.wustl.edu 37 3 16639613 16639613 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001351.2 -1 reviewed p.R75* 1.000 370 0% 110 45.5% 0 - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 TBC1D5 9779 genome.wustl.edu 37 3 17279908 17279908 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134381.1 -1 validated p.T445 1.000 36 0% 18 44.4% 7 57.1% - - - NULL SATB1 6304 genome.wustl.edu 37 3 18393598 18393598 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001131010.1 -1 validated p.F555 1.000 53 0% 47 42.6% 7 57.1% - - - HMMPfam_CUT KCNH8 131096 genome.wustl.edu 37 3 19436645 19436645 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144633.2 +1 reviewed p.R340H 1.000 92 0% 16 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 KCNH8 131096 genome.wustl.edu 37 3 19491760 19491760 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144633.2 +1 reviewed p.T513I 1.000 108 0% 30 53.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_cNMP_binding KCNH8 131096 genome.wustl.edu 37 3 19492803 19492803 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144633.2 +1 reviewed p.L578M 1.000 127 0% 41 53.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding KCNH8 131096 genome.wustl.edu 37 3 19554592 19554592 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144633.2 +1 reviewed p.S737L 0.039 58 0% 28 53.6% 0 - benign(0.026) tolerated(0.37) neutral(0.020) NULL EFHB 151651 genome.wustl.edu 37 3 19924124 19924124 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144715.3 -1 validated p.A749V 0.807 122 0.8% 59 37.3% 0 - possibly_damaging(0.876) tolerated(0.19) neutral(0.391) superfamily_EF-hand EFHB 151651 genome.wustl.edu 37 3 19947140 19947140 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144715.3 -1 validated p.S464P 0.921 184 0% 61 52.5% 0 - benign(0.379) tolerated(0.07) neutral(0.440) NULL EFHB 151651 genome.wustl.edu 37 3 19959749 19959749 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144715.3 -1 validated p.T384 0.889 464 0.6% 255 43.1% 0 - - - - NULL KAT2B 8850 genome.wustl.edu 37 3 20167577 20167577 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003884.4 +1 reviewed p.E532* 1.000 72 0% 37 43.2% 6 16.6% - - - superfamily_Acyl_CoA_acyltransferase SGOL1 151648 genome.wustl.edu 37 3 20215890 20215890 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012410.2 -1 provisional p.S378F 1.000 346 0% 182 42.3% 7 28.5% probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL TOP2B 7155 genome.wustl.edu 37 3 25654114 25654114 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001068.2 -1 reviewed p.K1221N 1.000 250 0% 132 41.7% 123 47.1% possibly_damaging(0.869) deleterious(0.03) deleterious(0.702) NULL TOP2B 7155 genome.wustl.edu 37 3 25677595 25677595 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001068.2 -1 reviewed p.K223 1.000 371 0% 146 51.4% 30 46.6% - - - HMMSmart_TOP2c,HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase NGLY1 55768 genome.wustl.edu 37 3 25761081 25761081 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018297.3 -1 reviewed p.V612A 1.000 241 0% 139 48.2% 29 48.2% possibly_damaging(0.663) tolerated(0.09) deleterious(0.531) NULL NGLY1 55768 genome.wustl.edu 37 3 25770728 25770728 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018297.3 -1 reviewed p.R503C 0.001 328 0.3% 98 36.7% 20 40% benign(0.006) tolerated(0.1) neutral(0.286) HMMSmart_SM00613 LRRC3B 116135 genome.wustl.edu 37 3 26751860 26751860 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052953.2 +1 provisional p.R233W 0.998 90 0% 45 42.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEK10 152110 genome.wustl.edu 37 3 27233563 27233563 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000396636 -1 known p.R821Q 1.000 264 0% 153 46.4% 0 - possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL NEK10 152110 genome.wustl.edu 37 3 27326400 27326400 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000424275 -1 known p.S101N 0.948 306 0% 150 46.7% 1 100% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLC4A7 9497 genome.wustl.edu 37 3 27463208 27463208 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003615.3 -1 validated p.G434 0.964 90 0% 44 45.5% 7 71.4% - - - HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein GADL1 339896 genome.wustl.edu 37 3 30903221 30903221 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207359.2 -1 validated p.K25T 0.870 329 0% 101 41.6% 0 - benign(0.059) tolerated(0.16) neutral(0.064) NULL OSBPL10 114884 genome.wustl.edu 37 3 31725223 31725223 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017784.4 -1 reviewed p.Y543* 1.000 100 0% 70 42.9% 11 18.1% - - - HMMPfam_Oxysterol_BP CNOT10 25904 genome.wustl.edu 37 3 32806251 32806251 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015442.1 +1 provisional p.A652T 1.000 47 0% 34 47.1% 42 50% possibly_damaging(0.612) tolerated(0.14) neutral(0.462) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like CNOT10 25904 genome.wustl.edu 37 3 32811380 32811380 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015442.1 +1 provisional p.A669V 1.000 309 0% 180 45.6% 47 65.9% benign(0.045) tolerated(0.65) neutral(0.005) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TRIM71 131405 genome.wustl.edu 37 3 32933261 32933261 + Silent SNP C C T rs146296287 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039111.1 +1 provisional p.I855 1.000 16 0% 14 64.3% 0 - - - - HMMPfam_NHL,superfamily_SSF101898 GLB1 2720 genome.wustl.edu 37 3 33055752 33055752 + Silent SNP C C T rs191203702 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000404.2 -1 reviewed p.T510 0.004 44 0% 46 10.9% 70 2.8% - - - NULL FBXL2 25827 genome.wustl.edu 37 3 33415407 33415407 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012157.3 +1 reviewed p.S217 0.981 121 0% 65 43.1% 6 33.3% - - - superfamily_SSF52047 FBXL2 25827 genome.wustl.edu 37 3 33416902 33416902 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012157.3 +1 reviewed p.P260 0.000 90 0% 52 51.9% 9 55.5% - - - superfamily_SSF52047 UBP1 7342 genome.wustl.edu 37 3 33438622 33438622 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128161.1 -1 validated p.D396N 1.000 172 0% 80 38.8% 32 40.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SAM/Pointed domain UBP1 7342 genome.wustl.edu 37 3 33467131 33467131 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128161.1 -1 validated p.T72 0.000 93 0% 29 34.5% 34 47% - - - HMMPfam_CP2 CLASP2 23122 genome.wustl.edu 37 3 33543233 33543233 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015097.1 -1 validated p.R1449W 1.000 142 0.7% 52 57.7% 19 47.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat CLASP2 23122 genome.wustl.edu 37 3 33731377 33731377 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015097.1 -1 validated p.R108* 1.000 302 0% 138 16.7% 5 0% - - - superfamily_ARM repeat ENSG00000172995 0 genome.wustl.edu 37 3 35725328 35725328 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000432450 +1 known p.I94 0.000 178 0% 25 48% 0 - - - - NULL DCLK3 85443 genome.wustl.edu 37 3 36763045 36763045 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033403.1 -1 validated p.V520I 1.000 177 0% 60 45% 0 - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TRANK1 9881 genome.wustl.edu 37 3 36874329 36874329 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014831.2 -1 provisional p.E1655K 0.108 107 0% 72 40.3% 1 0% benign(0.039) deleterious(0.04) neutral(0.351) NULL TRANK1 9881 genome.wustl.edu 37 3 36897247 36897247 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014831.2 -1 provisional p.T728 0.446 232 0% 120 45.8% 2 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TRANK1 9881 genome.wustl.edu 37 3 36897843 36897843 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014831.2 -1 provisional p.G530R 0.000 13 0% 13 38.5% 0 - benign(0) deleterious(0.04) neutral(0.349) superfamily_P-loop containing nucleoside triphosphate hydrolases TRANK1 9881 genome.wustl.edu 37 3 36897897 36897897 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014831.2 -1 provisional p.S512R 0.970 15 0% 12 58.3% 2 100% possibly_damaging(0.836) deleterious(0.01) deleterious(0.725) superfamily_P-loop containing nucleoside triphosphate hydrolases LRRFIP2 9209 genome.wustl.edu 37 3 37095949 37095949 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006309.2 -1 validated p.K670Q 1.000 736 0% 327 39.4% 55 60% probably_damaging(0.997) tolerated(0.05) deleterious(0.811) NULL GOLGA4 2803 genome.wustl.edu 37 3 37327545 37327545 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002078.4 +1 reviewed p.K173T 1.000 401 0% 155 45.2% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GOLGA4 2803 genome.wustl.edu 37 3 37388731 37388731 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002078.4 +1 reviewed p.E2174K 1.000 422 0% 160 41.9% 57 40.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_GRIP,HMMSmart_SM00755,superfamily_GRIP domain C3orf35 339883 genome.wustl.edu 37 3 37458846 37458846 + Missense_Mutation SNP G G A rs193097162 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178339.2 +1 validated p.R30Q 0.000 144 0% 60 33.3% 3 66.6% possibly_damaging(0.666) - - NULL C3orf35 339883 genome.wustl.edu 37 3 37476486 37476486 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000434797 +1 known p.L53M 0.008 47 0% 25 20% 1 0% - - - NULL CTDSPL 10217 genome.wustl.edu 37 3 37988585 37988585 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008392.1 +1 validated p.S39 0.955 24 0% 22 54.5% 9 33.3% - - - NULL VILL 50853 genome.wustl.edu 37 3 38039622 38039622 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015873.3 +1 reviewed p.A269V 0.998 34 0% 35 40% 5 0% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_C-terminal gelsolin-like domain of Sec23/24 DLEC1 9940 genome.wustl.edu 37 3 38103775 38103775 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007337.2 +1 reviewed p.F263 0.000 90 0% 77 42.9% 0 - - - - NULL DLEC1 9940 genome.wustl.edu 37 3 38129840 38129840 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007337.2 +1 reviewed p.S542 0.000 211 0% 145 45.5% 0 - - - - NULL DLEC1 9940 genome.wustl.edu 37 3 38153202 38153202 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007337.2 +1 reviewed p.R1160W 0.142 33 0% 25 64% 0 - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) NULL MYD88 4615 genome.wustl.edu 37 3 38182748 38182748 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002468.4 +1 reviewed p.R301C 0.930 61 0% 61 39.3% 44 43.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain SLC22A13 9390 genome.wustl.edu 37 3 38316634 38316634 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000450935 +1 known p.L172F 0.997 9 0.000 14 0.429 0 - unknown(0) tolerated(0.37) - NULL ACVR2B 93 genome.wustl.edu 37 3 38524741 38524741 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001106.3 +1 reviewed p.N486I 1.000 46 0% 45 48.9% 2 0% benign(0.018) tolerated(0.13) neutral(0.253) superfamily_Protein kinase-like (PK-like) EXOG 9941 genome.wustl.edu 37 3 38548433 38548433 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005107.3 +1 reviewed p.D207N 0.800 348 0% 151 41.7% 1 100% benign(0.143) tolerated(0.05) neutral(0.358) HMMPfam_Endonuclease_NS,HMMSmart_SM00477,superfamily_His-Me finger endonucleases SCN5A 6331 genome.wustl.edu 37 3 38592200 38592200 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099404.1 -1 reviewed p.S1888F 1.000 150 0% 163 32.5% 2 100% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL SCN5A 6331 genome.wustl.edu 37 3 38592489 38592489 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099404.1 -1 reviewed p.D1792N 1.000 65 0% 61 34.4% 0 - possibly_damaging(0.576) deleterious(0) deleterious(0.642) superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38595795 38595795 + Silent SNP G G A rs141789366 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099404.1 -1 reviewed p.F1596 0.997 113 0% 64 40.6% 2 100% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38607993 38607993 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099404.1 -1 reviewed p.V1249 1.000 51 0% 34 47.1% 1 100% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38628935 38628935 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099404.1 -1 reviewed p.L798 1.000 77 0% 65 38.5% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38651407 38651407 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099404.1 -1 reviewed p.A251D 1.000 21 0% 25 36% 1 100% probably_damaging(1) tolerated(0.24) deleterious(0.537) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN10A 6336 genome.wustl.edu 37 3 38835285 38835285 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006514.2 -1 validated p.E73* 0.710 120 0% 60 40% 0 - - - - NULL SCN11A 11280 genome.wustl.edu 37 3 38921503 38921503 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014139.2 -1 validated p.A1111T 1.000 149 0% 39 46.2% 0 - possibly_damaging(0.921) deleterious(0) deleterious(0.816) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN11A 11280 genome.wustl.edu 37 3 38946775 38946775 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014139.2 -1 validated p.N504I 0.971 168 0% 73 41.1% 0 - possibly_damaging(0.855) deleterious(0.05) deleterious(0.675) NULL TTC21A 199223 genome.wustl.edu 37 3 39170639 39170639 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105513.2 +1 validated p.A666V 1.000 29 0% 26 38.5% 5 60% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_TPR-like TTC21A 199223 genome.wustl.edu 37 3 39179083 39179083 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105513.2 +1 validated p.V1194A 0.001 28 0% 24 29.2% 6 33.3% benign(0) tolerated(0.23) neutral(0.042) superfamily_TPR-like LOC729454 729454 genome.wustl.edu 37 3 39255765 39255765 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001130287.2 +1 model p.E121* 1.000 49 0% 19 31.6% 0 - - - - HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins CX3CR1 1524 genome.wustl.edu 37 3 39307582 39307582 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001337.3 -1 reviewed p.N140S 0.009 52 0% 57 45.6% 0 - benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CX3CR1 1524 genome.wustl.edu 37 3 39307991 39307991 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001337.3 -1 reviewed p.F4V 0.000 48 0% 27 48.1% 1 0% benign(0) tolerated(0.55) neutral(0.007) superfamily_Family A G protein-coupled receptor-like CCR8 1237 genome.wustl.edu 37 3 39373997 39373997 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005201.3 +1 reviewed p.V59I 1.000 187 0% 86 43% 1 0% possibly_damaging(0.916) tolerated(1) neutral(0.367) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RPSA 3921 genome.wustl.edu 37 3 39453434 39453434 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012321.1 +1 reviewed p.E225D 1.000 70 0% 60 48.3% 2543 47.7% benign(0.002) tolerated(0.29) neutral(0.029) NULL ENTPD3 956 genome.wustl.edu 37 3 40464801 40464801 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001248.2 +1 validated p.Y375C 1.000 246 0% 125 12.8% 16 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDA1_CD39 ZNF620 253639 genome.wustl.edu 37 3 40553010 40553010 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175888.2 +1 validated p.W25L 0.689 326 0% 223 25.1% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF620 253639 genome.wustl.edu 37 3 40557834 40557834 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175888.2 +1 validated p.K250T 1.000 134 0% 65 43.1% 3 33.3% probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_C2H2 and C2HC zinc fingers CTNNB1 1499 genome.wustl.edu 37 3 41268823 41268823 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098209.1 +1 reviewed p.K354T 1.000 176 0% 73 35.6% 267 44.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat CTNNB1 1499 genome.wustl.edu 37 3 41275151 41275151 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098209.1 +1 reviewed p.C439 1.000 132 0% 67 35.8% 324 45.3% - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ULK4 54986 genome.wustl.edu 37 3 41795883 41795883 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017886.2 -1 validated p.R764H 0.974 165 0% 82 45.1% 2 100% benign(0.007) tolerated(0.16) neutral(0.059) NULL TRAK1 22906 genome.wustl.edu 37 3 42133046 42133046 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042646.1 +1 validated p.A29T 0.000 116 0% 92 45.7% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL TRAK1 22906 genome.wustl.edu 37 3 42233077 42233077 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042646.1 +1 validated p.T240A 1.000 45 0% 38 42.1% 22 45.4% possibly_damaging(0.466) tolerated(0.43) neutral(0.167) HMMPfam_HAP1_N TRAK1 22906 genome.wustl.edu 37 3 42264629 42264629 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042646.1 +1 validated p.Y754 0.596 32 0% 36 13.9% 30 16.6% - - - NULL TRAK1 22906 genome.wustl.edu 37 3 42264699 42264699 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042646.1 +1 validated p.I778L 1.000 46 0% 53 56.6% 44 56.8% benign(0.001) tolerated(0.34) neutral(0.023) NULL TRAK1 22906 genome.wustl.edu 37 3 42264716 42264716 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042646.1 +1 validated p.P783 0.025 59 0% 58 41.4% 31 35.4% - - - NULL TRAK1 22906 genome.wustl.edu 37 3 42264876 42264876 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042646.1 +1 validated p.S837P 1.000 24 0% 26 30.8% 23 60.8% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL NKTR 4820 genome.wustl.edu 37 3 42672770 42672770 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005385.3 +1 reviewed p.I171T 1.000 238 0% 98 38.8% 4 75% benign(0.099) deleterious(0.02) neutral(0.391) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase ZBTB47 92999 genome.wustl.edu 37 3 42699892 42699892 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000232974 +1 known p.C15 0.998 4 0.000 19 0.526 4 50% - - - superfamily_POZ domain,HMMPfam_BTB ZBTB47 92999 genome.wustl.edu 37 3 42700001 42700001 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000232974 +1 known p.L52 1.000 11 0% 27 63% 9 33.3% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB CCDC13 152206 genome.wustl.edu 37 3 42750588 42750588 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144719.3 -1 validated p.L678M 0.997 46 0% 30 36.7% 0 - benign(0.196) deleterious(0) neutral(0.463) NULL CCDC13 152206 genome.wustl.edu 37 3 42799774 42799774 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144719.3 -1 validated p.Q22* 1.000 438 0% 292 37.7% 0 - - - - NULL HIGD1A 25994 genome.wustl.edu 37 3 42835682 42835682 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099668.1 -1 validated p.R36* 1.000 212 0% 107 38.3% 84 17.8% - - - HMMPfam_HIG_1_N ZNF662 389114 genome.wustl.edu 37 3 42956246 42956246 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134656.1 +1 validated p.K253N 1.000 113 0% 63 50.8% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF662 389114 genome.wustl.edu 37 3 42956695 42956695 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134656.1 +1 validated p.R403Q 0.000 126 0% 72 50% 2 0% probably_damaging(0.978) tolerated(1) neutral(0.420) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SNRK 54861 genome.wustl.edu 37 3 43389121 43389121 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100594.1 +1 validated p.K457T 1.000 170 0% 109 41.3% 14 35.7% benign(0.261) tolerated(0.11) neutral(0.299) NULL ABHD5 51099 genome.wustl.edu 37 3 43756487 43756487 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016006.4 +1 reviewed p.S237Y 0.995 186 0% 82 15.9% 13 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Abhydrolase_1,superfamily_SSF53474 ABHD5 51099 genome.wustl.edu 37 3 43760009 43760009 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000413300 +1 known p.R146* 0.622 175 0% 62 50% 21 47.6% - - - NULL C3orf77 375337 genome.wustl.edu 37 3 44285125 44285125 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145030.1 +1 validated p.S376N 0.049 70 0% 33 48.5% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL C3orf77 375337 genome.wustl.edu 37 3 44286066 44286066 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145030.1 +1 validated p.P690S 1.000 59 0% 42 52.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PAZ C3orf77 375337 genome.wustl.edu 37 3 44362540 44362540 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145030.1 +1 validated p.T1443M 0.983 215 0% 116 47.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3orf23 285343 genome.wustl.edu 37 3 44402873 44402873 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173826.3 +1 validated p.S61Y 1.000 222 0% 62 37.1% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3orf23 285343 genome.wustl.edu 37 3 44409106 44409106 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173826.3 +1 validated p.P160S 1.000 118 0% 74 54.1% 2 100% benign(0.182) tolerated(0.11) neutral(0.288) NULL ZNF167 55888 genome.wustl.edu 37 3 44611461 44611461 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018651.2 +1 validated p.F287L 0.000 324 0% 149 37.6% 0 - benign(0) tolerated(0.16) neutral(0.059) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF167 55888 genome.wustl.edu 37 3 44611646 44611646 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018651.2 +1 validated p.K348N 0.000 256 0% 97 14.4% 1 100% benign(0.01) tolerated(0.52) neutral(0.009) NULL ZNF197 10168 genome.wustl.edu 37 3 44684211 44684211 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006991.3 +1 reviewed p.R530I 1.000 102 0% 48 45.8% 3 66.6% probably_damaging(0.985) tolerated(0.18) deleterious(0.488) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF35 7584 genome.wustl.edu 37 3 44700824 44700824 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003420.3 +1 validated p.R323 0.013 125 0% 53 39.6% 6 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF35 7584 genome.wustl.edu 37 3 44701376 44701376 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003420.3 +1 validated p.C507W 1.000 70 0% 31 32.3% 8 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF502 91392 genome.wustl.edu 37 3 44763275 44763275 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134440.1 +1 validated p.P322 0.000 107 0% 61 45.9% 2 50% unknown(0) tolerated(0.19) - superfamily_SSF57667 KIF15 56992 genome.wustl.edu 37 3 44846650 44846650 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020242.2 +1 validated p.E607* 1.000 189 0.5% 72 41.7% 3 66.6% - - - NULL ZDHHC3 51304 genome.wustl.edu 37 3 44975392 44975392 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135180.1 -1 validated p.F172 1.000 84 0% 59 40.7% 31 35.4% - - - HMMPfam_zf-DHHC LARS2 23395 genome.wustl.edu 37 3 45533227 45533227 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015340.3 +1 reviewed p.S486 0.000 34 0% 30 50% 11 18.1% - - - superfamily_SSF52374 SLC6A20 54716 genome.wustl.edu 37 3 45811778 45811778 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020208.3 -1 reviewed p.A341T 0.017 95 0% 68 38.2% 0 - possibly_damaging(0.455) tolerated(0.26) neutral(0.183) HMMPfam_SNF SLC6A20 54716 genome.wustl.edu 37 3 45823653 45823653 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020208.3 -1 reviewed p.E62K 1.000 14 0% 20 35% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF FYCO1 79443 genome.wustl.edu 37 3 46005882 46005882 + Missense_Mutation SNP G G A rs148445016 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024513.2 -1 validated p.A1072V 0.859 28 0% 16 43.8% 2 50% possibly_damaging(0.799) tolerated(0.12) deleterious(0.561) NULL FYCO1 79443 genome.wustl.edu 37 3 46007964 46007964 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024513.2 -1 validated p.L954 0.994 21 0% 38 26.3% 6 50% - - - NULL CCR3 1232 genome.wustl.edu 37 3 46307005 46307005 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001837.3 +1 reviewed p.S119I 0.831 44 0% 20 55% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 CCR3 1232 genome.wustl.edu 37 3 46307319 46307319 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001837.3 +1 reviewed p.K224E 0.002 118 0% 65 36.9% 0 - possibly_damaging(0.866) deleterious(0) deleterious(0.780) HMMPfam_7tm_1,superfamily_SSF81321 CCR2 729230 genome.wustl.edu 37 3 46399635 46399635 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001123041.2 +1 validated p.R206M 1.000 156 0% 66 50% 1 0% benign(0.002) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LTF 4057 genome.wustl.edu 37 3 46497369 46497369 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002343.2 -1 reviewed p.R139H 0.239 30 0% 28 42.9% 0 - benign(0.004) deleterious(0.03) neutral(0.364) HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 LTF 4057 genome.wustl.edu 37 3 46501180 46501180 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002343.2 -1 reviewed p.R58I 0.000 93 0% 97 47.4% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 LRRC2 79442 genome.wustl.edu 37 3 46586569 46586569 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024512.3 -1 validated p.A100 0.000 47 0% 35 48.6% 0 - - - - superfamily_SSF52058 ALS2CL 259173 genome.wustl.edu 37 3 46724760 46724760 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_147129.2 -1 validated p.K323N 0.996 7 0.000 8 0.500 2 0% benign(0.261) tolerated(0.33) neutral(0.051) NULL ALS2CL 259173 genome.wustl.edu 37 3 46725291 46725291 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_147129.2 -1 validated p.A298D 0.909 45 0% 46 50% 8 50% possibly_damaging(0.449) deleterious(0.02) deleterious(0.530) NULL MYL3 4634 genome.wustl.edu 37 3 46904757 46904757 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000258.2 -1 reviewed p.I42F 0.991 48 0% 23 52.2% 0 - possibly_damaging(0.908) deleterious(0.01) deleterious(0.767) NULL NBEAL2 23218 genome.wustl.edu 37 3 47037797 47037797 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015175.1 +1 validated p.R730C 1.000 11 0% 13 30.8% 22 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NBEAL2 23218 genome.wustl.edu 37 3 47047508 47047508 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015175.1 +1 validated p.A2292T 0.977 7 0.000 21 0.476 37 48.6% probably_damaging(0.957) tolerated(0.12) deleterious(0.661) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like NBEAL2 23218 genome.wustl.edu 37 3 47049566 47049566 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015175.1 +1 validated p.L2537M 0.998 29 0% 51 49% 69 56.5% possibly_damaging(0.894) tolerated(0.22) neutral(0.394) superfamily_WD40 repeat-like SETD2 29072 genome.wustl.edu 37 3 47061326 47061326 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014159.6 -1 reviewed p.S2452L 0.806 566 0.2% 340 50% 68 42.6% possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL SCAP 22937 genome.wustl.edu 37 3 47455769 47455769 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012235.2 -1 reviewed p.S1165 1.000 53 0% 32 68.8% 130 51.5% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DHX30 22907 genome.wustl.edu 37 3 47890692 47890692 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138615.2 +1 reviewed p.K980N 1.000 20 0% 21 38.1% 72 45.8% benign(0.006) tolerated(0.39) neutral(0.016) HMMPfam_DUF1605 CDC25A 993 genome.wustl.edu 37 3 48226147 48226147 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001789.2 -1 reviewed p.E96* 1.000 214 0% 117 40.2% 1 0% - - - HMMPfam_M-inducer_phosp PLXNB1 5364 genome.wustl.edu 37 3 48465757 48465757 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130082.1 -1 validated p.C88 1.000 9 0.000 10 0.600 31 61.2% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain CCDC51 79714 genome.wustl.edu 37 3 48475217 48475217 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024661.3 -1 validated p.H126R 1.000 36 0% 31 48.4% 13 69.2% benign(0.004) tolerated(0.08) neutral(0.300) NULL SHISA5 51246 genome.wustl.edu 37 3 48511224 48511224 + Silent SNP G G A rs147137615 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016479.3 -1 validated p.A111 0.030 16 0% 22 59.1% 252 40.8% - - - NULL COL7A1 1294 genome.wustl.edu 37 3 48623903 48623903 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000094.3 -1 reviewed p.V1138M 0.186 21 0% 17 29.4% 4 0% unknown(0) deleterious(0) - HMMPfam_VWA,superfamily_vWA-like SLC26A6 65010 genome.wustl.edu 37 3 48667108 48667108 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022911.2 -1 reviewed p.T522 0.051 183 0% 175 43.4% 18 61.1% - - - NULL CELSR3 1951 genome.wustl.edu 37 3 48679840 48679840 + Silent SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001407.2 -1 reviewed p.A2872 1.000 19 0% 16 75% 0 - - - - NULL CELSR3 1951 genome.wustl.edu 37 3 48686247 48686247 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001407.2 -1 reviewed p.R2228* 1.000 12 0% 11 36.4% 4 100% - - - NULL CELSR3 1951 genome.wustl.edu 37 3 48697622 48697622 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001407.2 -1 reviewed p.A816T 1.000 31 0% 21 33.3% 1 0% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CELSR3 1951 genome.wustl.edu 37 3 48698342 48698342 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001407.2 -1 reviewed p.A576T 1.000 10 0% 14 35.7% 0 - benign(0.004) tolerated(0.63) neutral(0.004) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like NCKIPSD 51517 genome.wustl.edu 37 3 48719208 48719208 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016453.2 -1 reviewed p.H202Y 0.981 11 0% 17 35.3% 20 30% benign(0) tolerated(0.3) neutral(0.029) NULL ENSG00000232483 0 genome.wustl.edu 37 3 48732881 48732881 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000421921 +1 novel NULL 0.000 27 0% 18 33.3% 1 0% - - - - ARIH2 10425 genome.wustl.edu 37 3 48965100 48965100 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006321.2 +1 provisional p.D37N 1.000 65 0% 48 35.4% 29 51.7% benign(0.071) deleterious(0.01) neutral(0.411) NULL WDR6 11180 genome.wustl.edu 37 3 49049535 49049535 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018031.3 +1 reviewed p.A220S 1.000 15 0% 20 40% 69 62.3% benign(0.323) tolerated(0.64) neutral(0.104) NULL WDR6 11180 genome.wustl.edu 37 3 49052471 49052471 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018031.3 +1 reviewed p.S1069Y 0.002 28 0% 27 14.8% 159 11.3% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMSmart_SM00320,superfamily_WD40 repeat-like WDR6 11180 genome.wustl.edu 37 3 49052592 49052592 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018031.3 +1 reviewed p.T1109 0.432 21 0% 25 20% 185 12.9% - - - NULL USP19 10869 genome.wustl.edu 37 3 49153998 49153998 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006677.1 -1 provisional p.S289L 1.000 63 0% 40 42.5% 24 50% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_HSP20-like chaperones,HMMPfam_DUF1872 CCDC71 64925 genome.wustl.edu 37 3 49200658 49200658 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022903.3 -1 validated p.Q328 0.000 70 0% 90 23.3% 36 30.5% - - - NULL C3orf62 375341 genome.wustl.edu 37 3 49313875 49313875 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198562.2 -1 validated p.R144K 0.991 259 0% 166 37.3% 4 50% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL USP4 7375 genome.wustl.edu 37 3 49321512 49321512 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000431357 -1 known p.L555F 0.224 148 0% 112 38.4% 33 54.5% - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP4 7375 genome.wustl.edu 37 3 49331981 49331981 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003363.3 -1 validated p.P581L 1.000 58 0% 44 36.4% 30 53.3% benign(0.001) deleterious(0) neutral(0.445) HMMPfam_UCH,superfamily_Cysteine proteinases AMT 275 genome.wustl.edu 37 3 49456802 49456802 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000481.3 -1 reviewed p.A196V 0.185 30 0% 26 38.5% 12 75% benign(0.028) tolerated(0.23) neutral(0.043) HMMPfam_GCV_T,superfamily_Aminomethyltransferase folate-binding domain DAG1 1605 genome.wustl.edu 37 3 49570027 49570027 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004393.4 +1 reviewed p.A695T 0.034 23 4.3% 23 43.5% 65 43% benign(0.004) tolerated(0.61) neutral(0.004) HMMPfam_DAG1 BSN 8927 genome.wustl.edu 37 3 49691433 49691433 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003458.3 +1 reviewed p.P1482T 1.000 64 0% 78 42.3% 0 - probably_damaging(0.998) - - NULL BSN 8927 genome.wustl.edu 37 3 49695397 49695397 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003458.3 +1 reviewed p.P2803H 1.000 44 0% 50 20% 1 0% unknown(0) - - NULL BSN 8927 genome.wustl.edu 37 3 49700629 49700629 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003458.3 +1 reviewed p.R3680W 1.000 13 0% 17 41.2% 3 0% unknown(0) - - NULL RNF123 63891 genome.wustl.edu 37 3 49728901 49728901 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022064.2 +1 reviewed p.I42 1.000 48 0% 33 48.5% 15 26.6% - - - NULL RNF123 63891 genome.wustl.edu 37 3 49753064 49753064 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022064.2 +1 reviewed p.P1023S 0.185 45 0% 74 25.7% 11 45.4% benign(0.051) tolerated(0.43) neutral(0.017) NULL RNF123 63891 genome.wustl.edu 37 3 49753084 49753084 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022064.2 +1 reviewed p.F1029 1.000 57 0% 81 50.6% 15 60% - - - NULL IP6K1 9807 genome.wustl.edu 37 3 49765622 49765622 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153273.3 -1 reviewed p.A236T 1.000 9 0.000 10 0.700 32 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_IPK,superfamily_SAICAR synthase-like TRAIP 10293 genome.wustl.edu 37 3 49867477 49867477 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005879.2 -1 reviewed p.K354N 0.961 161 0% 107 35.5% 10 10% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL MST1R 4486 genome.wustl.edu 37 3 49936519 49936519 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002447.2 -1 validated p.R470C 1.000 44 0% 51 43.1% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain MST1R 4486 genome.wustl.edu 37 3 49940854 49940854 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002447.2 -1 validated p.G63 0.001 24 0% 28 32.1% 8 50% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain RBM6 10180 genome.wustl.edu 37 3 50005101 50005101 + Silent SNP G G A rs182256104 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005777.2 +1 validated p.P81 0.069 91 0% 61 54.1% 11 45.4% - - - NULL RBM6 10180 genome.wustl.edu 37 3 50005971 50005971 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005777.2 +1 validated p.Q371 0.993 38 0% 37 48.6% 23 52.1% - - - NULL RBM6 10180 genome.wustl.edu 37 3 50012815 50012815 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005777.2 +1 validated p.E491 1.000 344 0% 177 42.9% 14 28.5% - - - HMMSmart_RRM,superfamily_SSF54928 RBM6 10180 genome.wustl.edu 37 3 50097091 50097091 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005777.2 +1 validated p.R714C 1.000 146 0% 96 43.8% 40 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF54928 RBM6 10180 genome.wustl.edu 37 3 50107915 50107915 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005777.2 +1 validated p.R1016C 1.000 166 0% 67 25.4% 51 21.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RBM5 10181 genome.wustl.edu 37 3 50143051 50143051 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005778.1 +1 provisional p.A255V 1.000 89 0% 48 37.5% 52 53.8% benign(0.003) tolerated(0.46) neutral(0.012) HMMSmart_SM00360,superfamily_RNA-binding domain RBD GNAT1 2779 genome.wustl.edu 37 3 50230948 50230948 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000172.3 +1 reviewed p.R101W 0.992 11 0% 15 26.7% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_G-alpha,superfamily_Transducn_insert,superfamily_SSF52540 GNAT1 2779 genome.wustl.edu 37 3 50230949 50230949 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000172.3 +1 reviewed p.R101Q 1.000 11 0% 15 53.3% 0 - benign(0.007) tolerated(0.42) neutral(0.014) HMMPfam_G-alpha,superfamily_Transducn_insert,superfamily_SSF52540 SEMA3B 7869 genome.wustl.edu 37 3 50307705 50307705 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004636.2 +1 reviewed p.G86R 0.955 16 0% 19 42.1% 8 12.5% unknown(0) - - NULL SEMA3B 7869 genome.wustl.edu 37 3 50311428 50311428 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004636.2 +1 reviewed p.R359M 1.000 13 0% 16 75% 12 58.3% possibly_damaging(0.741) - - NULL HYAL3 8372 genome.wustl.edu 37 3 50332483 50332483 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003549.2 -1 reviewed p.T184M 0.942 9 0.000 12 0.500 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases HYAL3 8372 genome.wustl.edu 37 3 50332729 50332729 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003549.2 -1 reviewed p.D102G 0.000 35 0% 34 23.5% 2 50% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases HYAL1 3373 genome.wustl.edu 37 3 50339994 50339994 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007312.3 -1 reviewed p.A132T 1.000 14 0% 15 33.3% 0 - possibly_damaging(0.659) tolerated(0.52) neutral(0.241) HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases CACNA2D2 9254 genome.wustl.edu 37 3 50418454 50418454 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005505.1 -1 reviewed p.S252 0.439 35 0% 28 53.6% 0 - - - - HMMPfam_VWA_N DOCK3 1795 genome.wustl.edu 37 3 50971450 50971450 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004947.3 +1 validated p.V86A 1.000 462 0% 252 43.3% 0 - benign(0.314) tolerated(0.07) neutral(0.417) NULL DOCK3 1795 genome.wustl.edu 37 3 51198055 51198055 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004947.3 +1 validated p.A320V 1.000 114 0% 47 42.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOCK3 1795 genome.wustl.edu 37 3 51370620 51370620 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004947.3 +1 validated p.R1183C 1.000 49 0% 43 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RBM15B 29890 genome.wustl.edu 37 3 51430237 51430237 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013286.3 +1 validated p.A469 1.000 23 0% 18 27.8% 80 45% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 RBM15B 29890 genome.wustl.edu 37 3 51430939 51430939 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013286.3 +1 validated p.H703 0.000 51 2% 31 38.7% 56 48.2% - - - NULL VPRBP 9730 genome.wustl.edu 37 3 51449893 51449893 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014703.2 -1 validated p.C1331 1.000 122 0% 71 16.9% 38 18.4% - - - NULL RAD54L2 23132 genome.wustl.edu 37 3 51677927 51677927 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015106.2 +1 validated p.R796Q 1.000 136 0% 72 48.6% 3 66.6% possibly_damaging(0.76) tolerated(0.13) deleterious(0.534) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases PARP3 10039 genome.wustl.edu 37 3 51980337 51980337 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003931.2 +1 reviewed p.E425D 1.000 24 0% 32 56.2% 11 27.2% probably_damaging(0.994) tolerated(0.05) deleterious(0.797) HMMPfam_PARP,superfamily_SSF56399 PCBP4 57060 genome.wustl.edu 37 3 51995220 51995220 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033008.2 -1 reviewed p.E13* 1.000 7 0.000 16 0.250 57 35% - - - superfamily_Eukaryotic type KH-domain (KH-domain type I) ACY1 95 genome.wustl.edu 37 3 52022998 52022998 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000666.1 +1 reviewed p.R378 1.000 28 0% 35 37.1% 67 43.2% - - - HMMPfam_Peptidase_M20,superfamily_SSF53187 ALAS1 211 genome.wustl.edu 37 3 52237906 52237906 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000688.4 +1 validated p.S152I 0.000 111 0% 52 36.5% 41 53.6% benign(0.001) tolerated(0.14) neutral(0.249) NULL PPM1M 132160 genome.wustl.edu 37 3 52282677 52282677 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000457454 +1 known p.R208Q 0.068 47 0% 43 16.3% 48 6.2% - - - superfamily_Protein serine/threonine phosphatase 2C catalytic domain DNAH1 25981 genome.wustl.edu 37 3 52357843 52357843 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015512.4 +1 validated p.R118Q 0.000 43 0% 50 40% 1 100% benign(0.066) tolerated(0.58) neutral(0.009) NULL DNAH1 25981 genome.wustl.edu 37 3 52393971 52393971 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015512.4 +1 validated p.R1483C 1.000 31 0% 48 56.2% 1 0% benign(0.016) deleterious(0.02) neutral(0.384) NULL DNAH1 25981 genome.wustl.edu 37 3 52397079 52397079 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015512.4 +1 validated p.S1721 1.000 74 0% 56 48.2% 3 33.3% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH1 25981 genome.wustl.edu 37 3 52414026 52414026 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015512.4 +1 validated p.R2495C 0.000 35 0% 41 43.9% 5 60% possibly_damaging(0.64) deleterious(0.05) deleterious(0.570) superfamily_P-loop containing nucleoside triphosphate hydrolases BAP1 8314 genome.wustl.edu 37 3 52437519 52437519 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004656.2 -1 reviewed p.R548C 1.000 6 0.000 11 0.455 77 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEMA3G 56920 genome.wustl.edu 37 3 52469648 52469648 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020163.1 -1 provisional p.R774W 0.995 9 0.000 9 0.778 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NT5DC2 64943 genome.wustl.edu 37 3 52568576 52568576 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022908.2 -1 validated p.R32C 0.001 29 0% 30 40% 2 0% unknown(0) - - NULL GNL3 26354 genome.wustl.edu 37 3 52721604 52721604 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014366.4 +1 validated p.K99 0.000 164 0% 99 22.2% 26 88.4% - - - NULL ITIH3 3699 genome.wustl.edu 37 3 52830639 52830639 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002217.3 +1 validated p.T86M 1.000 61 0% 78 44.9% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00609,HMMPfam_VIT ITIH3 3699 genome.wustl.edu 37 3 52840399 52840399 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002217.3 +1 validated p.R678H 1.000 29 0% 22 22.7% 1 0% benign(0.026) deleterious(0.01) neutral(0.407) NULL ITIH4 3700 genome.wustl.edu 37 3 52860584 52860584 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441637 -1 known p.P71S 0.994 34 0% 37 54.1% 0 - - - - NULL ITIH4 3700 genome.wustl.edu 37 3 52863286 52863286 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002218.4 -1 reviewed p.D34N 0.985 32 0% 30 50% 0 - benign(0.056) tolerated(0.13) neutral(0.256) HMMSmart_SM00609,HMMPfam_VIT SFMBT1 51460 genome.wustl.edu 37 3 52941640 52941640 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005158.1 -1 reviewed p.K672N 1.000 505 0% 210 46.2% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DCP1A 55802 genome.wustl.edu 37 3 53346310 53346310 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018403.5 -1 reviewed p.I157 1.000 39 0% 32 46.9% 5 20% - - - NULL CACNA1D 776 genome.wustl.edu 37 3 53757669 53757669 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000720.2 +1 validated p.R645S 0.004 170 0% 134 39.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53757882 53757882 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000720.2 +1 validated p.S672 0.036 221 0.5% 138 43.5% 1 0% - - - HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53761026 53761026 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000720.2 +1 validated p.Y761H 1.000 190 0% 98 19.4% 2 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53810892 53810892 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000720.2 +1 validated p.R1519M 1.000 165 0% 116 46.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CACNA1D 776 genome.wustl.edu 37 3 53835225 53835225 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000720.2 +1 validated p.P1747 0.964 93 0% 56 41.1% 0 - - - - NULL CACNA1D 776 genome.wustl.edu 37 3 53844195 53844195 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000720.2 +1 validated p.R2041H 1.000 11 0% 25 40% 1 100% possibly_damaging(0.891) tolerated(0.12) deleterious(0.611) NULL ACTR8 93973 genome.wustl.edu 37 3 53902824 53902824 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022899.4 -1 validated p.Q599H 1.000 66 0% 55 36.4% 16 50% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 ACTR8 93973 genome.wustl.edu 37 3 53907174 53907174 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000231909 -1 known e3-1 0.092 115 0% 58 53.4% 0 - - - - - CACNA2D3 55799 genome.wustl.edu 37 3 54676214 54676214 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018398.2 +1 reviewed p.G371 0.955 83 0% 67 40.3% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like WNT5A 7474 genome.wustl.edu 37 3 55504144 55504144 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000442038 -1 known p.R106C 0.995 17 0% 17 23.5% 10 0% unknown(0) deleterious(0) - NULL ERC2 26059 genome.wustl.edu 37 3 56468597 56468597 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015576.1 -1 validated p.M147L 0.999 168 0% 87 43.7% 2 50% benign(0) tolerated(0.3) neutral(0.029) NULL SPATA12 353324 genome.wustl.edu 37 3 57107903 57107903 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181727.1 +1 provisional p.P61S 0.001 61 0% 53 47.2% 0 - possibly_damaging(0.688) - - NULL IL17RD 54756 genome.wustl.edu 37 3 57132450 57132450 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017563.3 -1 validated p.K427N 1.000 101 0% 65 56.9% 3 66.6% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_SEFIR IL17RD 54756 genome.wustl.edu 37 3 57135370 57135370 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017563.3 -1 validated p.D334G 1.000 95 0% 50 44% 9 44.4% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL APPL1 26060 genome.wustl.edu 37 3 57294726 57294726 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012096.2 +1 reviewed p.R589Q 1.000 347 0% 161 44.1% 24 45.8% benign(0.017) tolerated(0.27) neutral(0.034) HMMPfam_PID,superfamily_SSF50729 DNAH12 201625 genome.wustl.edu 37 3 57327968 57327968 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000462199 -1 known p.L731I 0.988 189 0% 68 50% 0 - - - - HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57343878 57343878 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178504.4 -1 validated p.L2766P 1.000 196 0% 88 42% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57454591 57454591 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178504.4 -1 validated p.E741* 1.000 622 0% 161 35.4% 0 - - - - HMMPfam_DHC_N2 PDE12 201626 genome.wustl.edu 37 3 57542542 57542542 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177966.5 +1 validated p.A146T 1.000 6 0.000 8 0.625 12 33.3% possibly_damaging(0.616) tolerated(0.21) neutral(0.259) NULL ARF4 378 genome.wustl.edu 37 3 57557970 57557970 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001660.3 -1 reviewed p.D171G 1.000 237 0% 90 46.7% 331 49.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,PatternScan_ARF,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases FLNB 2317 genome.wustl.edu 37 3 58092568 58092568 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001457.3 +1 reviewed p.H637N 1.000 38 0% 24 45.8% 34 61.7% benign(0.413) tolerated(0.55) neutral(0.141) HMMSmart_IG_FLMN FLNB 2317 genome.wustl.edu 37 3 58107164 58107164 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001457.3 +1 reviewed p.Y1020 0.787 21 0% 14 42.9% 54 40.7% - - - HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin FLNB 2317 genome.wustl.edu 37 3 58116622 58116622 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001457.3 +1 reviewed p.V1459 0.001 8 0.000 10 0.500 54 50% - - - HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin FLNB 2317 genome.wustl.edu 37 3 58134407 58134407 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001457.3 +1 reviewed p.E1973D 0.976 30 0% 24 58.3% 72 45.8% benign(0.027) tolerated(0.1) neutral(0.288) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin PXK 54899 genome.wustl.edu 37 3 58368296 58368296 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017771.3 +1 provisional p.R86H 1.000 225 0% 115 41.7% 4 0% probably_damaging(0.997) tolerated(0.1) deleterious(0.752) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain PXK 54899 genome.wustl.edu 37 3 58376386 58376386 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017771.3 +1 provisional p.G156C 1.000 179 0% 92 45.7% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KCTD6 200845 genome.wustl.edu 37 3 58486885 58486885 + Silent SNP G G A rs189292002 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128214.1 +1 validated p.P80 0.365 156 0% 71 22.5% 12 16.6% - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain ACOX2 8309 genome.wustl.edu 37 3 58510177 58510177 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003500.3 -1 reviewed p.T501M 0.076 17 0% 14 42.9% 3 33.3% probably_damaging(0.973) tolerated(0.1) deleterious(0.702) HMMPfam_ACOX,superfamily_AcylCoADH_C_like ACOX2 8309 genome.wustl.edu 37 3 58519173 58519173 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003500.3 -1 reviewed p.D194 0.878 89 0% 71 42.3% 1 100% - - - HMMPfam_Acyl-CoA_dh_M,superfamily_AcylCoA_dehyd_NM FAM3D 131177 genome.wustl.edu 37 3 58620023 58620023 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138805.2 -1 validated p.P220S 0.942 76 0% 65 47.7% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM3D 131177 genome.wustl.edu 37 3 58622064 58622064 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138805.2 -1 validated p.F181C 0.999 109 0% 65 43.1% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM3D 131177 genome.wustl.edu 37 3 58631268 58631268 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138805.2 -1 validated p.V77 0.868 29 0% 34 44.1% 10 40% - - - NULL C3orf67 200844 genome.wustl.edu 37 3 58849439 58849439 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198463.2 -1 validated p.F355L 0.995 187 0% 88 35.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PTPRG 5793 genome.wustl.edu 37 3 62180831 62180831 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002841.3 +1 reviewed p.T438 0.003 64 0% 53 41.5% 23 52.1% - - - superfamily_Fibronectin type III CADPS 8618 genome.wustl.edu 37 3 62459984 62459984 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003716.3 -1 reviewed p.A1114V 1.000 238 0.4% 95 30.5% 1 0% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) NULL CADPS 8618 genome.wustl.edu 37 3 62570868 62570868 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003716.3 -1 reviewed p.K523N 1.000 343 0% 177 39.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SYNPR 132204 genome.wustl.edu 37 3 63542291 63542291 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130003.1 +1 validated p.D94 1.000 85 0% 54 44.4% 0 - - - - HMMPfam_MARVEL SNTN 132203 genome.wustl.edu 37 3 63638398 63638398 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080537.1 +1 provisional p.S12Y 0.001 62 0% 25 56% 0 - benign(0.092) deleterious(0.03) neutral(0.371) NULL THOC7 80145 genome.wustl.edu 37 3 63820874 63820874 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025075.2 -1 validated p.H168R 0.996 333 0% 98 37.8% 132 47.7% possibly_damaging(0.948) tolerated(0.1) deleterious(0.677) NULL ADAMTS9 56999 genome.wustl.edu 37 3 64608122 64608122 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182920.1 -1 reviewed p.R844C 1.000 215 0% 84 50% 18 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ADAM_spacer1 LRIG1 26018 genome.wustl.edu 37 3 66502037 66502037 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015541.2 -1 validated p.L104S 0.984 117 0% 62 38.7% 70 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SUCLG2 8801 genome.wustl.edu 37 3 67426254 67426254 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003848.3 -1 reviewed p.L405I 0.902 100 0% 41 46.3% 27 44.4% benign(0.039) tolerated(1) neutral(0.002) HMMPfam_Ligase_CoA,superfamily_CoA_ligase C3orf64 285203 genome.wustl.edu 37 3 69027512 69027512 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173654.1 -1 provisional p.R386Q 0.992 201 0% 89 15.7% 7 14.2% benign(0.001) tolerated(0.63) neutral(0.004) NULL TMF1 7110 genome.wustl.edu 37 3 69097037 69097037 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007114.2 -1 validated p.A273 0.833 68 0% 38 47.4% 17 29.4% - - - NULL LMOD3 56203 genome.wustl.edu 37 3 69168513 69168513 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198271.3 -1 validated p.M331I 1.000 186 0% 90 37.8% 0 - benign(0.354) tolerated(0.8) neutral(0.113) HMMPfam_Tropomodulin,superfamily_RNI-like FRMD4B 23150 genome.wustl.edu 37 3 69247863 69247863 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015123.1 -1 validated p.V313 0.998 273 0% 104 13.5% 4 0% - - - HMMPfam_FERM_C,superfamily_PH domain-like MITF 4286 genome.wustl.edu 37 3 69813040 69813040 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006722.2 +1 reviewed p.F16L 0.001 268 0.4% 96 42.7% 0 - benign(0.009) - - NULL MITF 4286 genome.wustl.edu 37 3 70005628 70005628 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198159.2 +1 reviewed p.N320 1.000 250 0% 93 40.9% 2 50% - - - HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic FOXP1 27086 genome.wustl.edu 37 3 71015130 71015130 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032682.4 -1 reviewed p.S600 0.992 140 0% 93 41.9% 14 35.7% - - - NULL FOXP1 27086 genome.wustl.edu 37 3 71026983 71026983 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000318796 -1 known p.V348I 1.000 152 0% 101 41.6% 9 66.6% benign(0.164) deleterious(0) neutral(0.460) NULL RYBP 23429 genome.wustl.edu 37 3 72495648 72495648 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000477973 -1 known p.Q141P 1.000 56 0% 79 41.8% 32 40.6% - - - NULL RYBP 23429 genome.wustl.edu 37 3 72495823 72495823 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000477973 -1 known p.L83M 0.995 64 0% 64 10.9% 0 - - - - NULL SHQ1 55164 genome.wustl.edu 37 3 72866502 72866502 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018130.2 -1 validated p.R254Q 1.000 162 0% 74 43.2% 13 46.1% possibly_damaging(0.885) tolerated(0.09) deleterious(0.642) HMMPfam_SHQ1 GXYLT2 727936 genome.wustl.edu 37 3 73016825 73016825 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080393.1 +1 provisional p.D368 0.649 106 0% 56 44.6% 29 48.2% - - - HMMPfam_Glyco_transf_8,superfamily_SSF53448 EBLN2 55096 genome.wustl.edu 37 3 73111684 73111684 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018029.3 +1 provisional p.T151N 0.001 169 0% 73 41.1% 2 50% benign(0.007) deleterious(0.01) neutral(0.406) HMMPfam_BDV_P40,superfamily_P40_nucleoprot_BD-vir PDZRN3 23024 genome.wustl.edu 37 3 73440208 73440208 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000494559 -1 known p.G35E 0.999 127 0% 92 38% 21 47.6% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PDZRN3 23024 genome.wustl.edu 37 3 73453312 73453312 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015009.1 -1 provisional p.L385I 1.000 117 0% 62 51.6% 17 17.6% possibly_damaging(0.945) tolerated(0.05) deleterious(0.735) superfamily_PDZ domain-like CNTN3 5067 genome.wustl.edu 37 3 74334530 74334530 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020872.1 -1 validated p.T877M 0.945 107 0% 40 17.5% 10 10% probably_damaging(0.968) deleterious(0.02) deleterious(0.793) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ROBO2 6092 genome.wustl.edu 37 3 77614245 77614245 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002942.3 +1 reviewed p.P608H 1.000 73 0% 17 29.4% 26 57.6% possibly_damaging(0.583) deleterious(0) deleterious(0.645) superfamily_Fibronectin type III ROBO2 6092 genome.wustl.edu 37 3 77617532 77617532 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002942.3 +1 reviewed p.R640C 1.000 79 0% 24 37.5% 25 36% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00060,superfamily_Fibronectin type III ROBO2 6092 genome.wustl.edu 37 3 77651546 77651546 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002942.3 +1 reviewed p.D1014N 1.000 149 0% 99 50.5% 26 38.4% possibly_damaging(0.894) deleterious(0.01) deleterious(0.758) NULL ROBO2 6092 genome.wustl.edu 37 3 77684173 77684173 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002942.3 +1 reviewed p.R1305* 1.000 147 0% 83 38.6% 17 5.8% - - - NULL ROBO1 6091 genome.wustl.edu 37 3 78763644 78763644 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002941.3 -1 reviewed p.K316N 1.000 157 0% 67 47.8% 7 42.8% benign(0.097) tolerated(0.18) neutral(0.064) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin GBE1 2632 genome.wustl.edu 37 3 81627217 81627217 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000264326 -1 known p.W493R 1.000 198 0% 70 35.7% 43 41.8% benign(0.041) tolerated(0.56) neutral(0.009) HMMSmart_SM00642,superfamily_(Trans)glycosidases CGGBP1 8545 genome.wustl.edu 37 3 88105001 88105001 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008390.1 -1 validated p.F42 1.000 32 0% 38 52.6% 39 51.2% - - - NULL ARL13B 200894 genome.wustl.edu 37 3 93722607 93722607 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182896.2 +1 reviewed p.R79W 1.000 558 0% 189 40.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases DHFRL1 200895 genome.wustl.edu 37 3 93780084 93780084 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176815.3 -1 provisional p.A91V 0.997 471 0% 239 43.9% 2 0% benign(0.296) deleterious(0.02) deleterious(0.475) HMMPfam_DHFR_1,superfamily_SSF53597 EPHA6 285220 genome.wustl.edu 37 3 96963044 96963044 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080448.2 +1 provisional p.F507L 1.000 144 0% 59 40.7% 1 0% probably_damaging(0.988) tolerated(0.05) deleterious(0.783) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III EPHA6 285220 genome.wustl.edu 37 3 97251319 97251319 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080448.2 +1 provisional p.R773T 1.000 207 0.5% 47 34% 0 - possibly_damaging(0.845) tolerated(0.35) neutral(0.345) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) EPHA6 285220 genome.wustl.edu 37 3 97454866 97454866 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080448.2 +1 provisional p.R1011I 1.000 83 0% 27 44.4% 0 - possibly_damaging(0.892) deleterious(0) deleterious(0.796) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CRYBG3 131544 genome.wustl.edu 37 3 97596359 97596359 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153605.2 +1 validated p.H159 0.784 56 0% 26 50% 6 50% - - - NULL CRYBG3 131544 genome.wustl.edu 37 3 97596571 97596571 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153605.2 +1 validated p.P230H 0.005 109 0% 41 43.9% 5 60% benign(0) deleterious(0) neutral(0.445) NULL CRYBG3 131544 genome.wustl.edu 37 3 97618060 97618060 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153605.2 +1 validated p.W694G 1.000 236 0% 77 40.3% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like OR5K2 402135 genome.wustl.edu 37 3 98216965 98216965 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004737.1 +1 provisional p.G147 0.009 302 0% 116 43.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5K2 402135 genome.wustl.edu 37 3 98217085 98217085 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004737.1 +1 provisional p.L187 0.996 615 0% 174 44.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CLDND1 56650 genome.wustl.edu 37 3 98235543 98235543 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040182.1 -1 validated p.R264Q 1.000 127 0% 94 48.9% 40 25% probably_damaging(0.994) tolerated(0.13) deleterious(0.705) NULL DCBLD2 131566 genome.wustl.edu 37 3 98541085 98541085 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080927.3 -1 validated p.V273I 1.000 99 0% 58 51.7% 14 14.2% possibly_damaging(0.72) tolerated(0.36) neutral(0.281) HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain DCBLD2 131566 genome.wustl.edu 37 3 98568386 98568386 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080927.3 -1 validated p.E164* 1.000 254 0% 129 42.6% 10 40% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DCBLD2 131566 genome.wustl.edu 37 3 98600612 98600612 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080927.3 -1 validated e2-1 1.000 109 0% 65 40% 0 - - - - - COL8A1 1295 genome.wustl.edu 37 3 99513757 99513757 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001850.3 +1 reviewed p.L338V 0.053 19 0% 22 36.4% 28 46.4% unknown(0) tolerated(0.38) - NULL FILIP1L 11259 genome.wustl.edu 37 3 99569190 99569190 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182909.2 -1 validated p.L444 1.000 279 0% 97 34% 2 0% - - - HMMPfam_CortBP2 TBC1D23 55773 genome.wustl.edu 37 3 100034991 100034991 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018309.2 +1 validated p.K534N 1.000 163 0% 80 42.5% 22 27.2% probably_damaging(0.982) tolerated(0.12) deleterious(0.687) NULL NIT2 56954 genome.wustl.edu 37 3 100073656 100073656 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020202.4 +1 validated p.V242M 0.374 231 0.4% 89 36% 45 42.2% possibly_damaging(0.827) deleterious(0) deleterious(0.758) superfamily_Ntlse/CNhydtse GPR128 84873 genome.wustl.edu 37 3 100365442 100365442 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032787.2 +1 validated p.S380 0.899 159 0% 83 47% 0 - - - - HMMPfam_GPS,HMMSmart_GPS GPR128 84873 genome.wustl.edu 37 3 100413792 100413792 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032787.2 +1 validated p.S781R 0.000 126 0% 84 42.9% 0 - benign(0.158) deleterious(0.05) neutral(0.359) NULL ABI3BP 25890 genome.wustl.edu 37 3 100494104 100494104 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000495591 -1 known p.E815* 0.000 196 0% 82 56.1% 1 0% probably_damaging(0.986) deleterious(0.04) deleterious(0.783) NULL ABI3BP 25890 genome.wustl.edu 37 3 100617677 100617677 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015429.3 -1 validated p.V137 0.999 53 0% 35 51.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III IMPG2 50939 genome.wustl.edu 37 3 100963443 100963443 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016247.2 -1 validated p.D578Y 0.012 187 0% 71 49.3% 1 100% possibly_damaging(0.46) deleterious(0.01) deleterious(0.556) NULL IMPG2 50939 genome.wustl.edu 37 3 100976388 100976388 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016247.2 -1 validated p.L380M 1.000 96 0% 29 58.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL IMPG2 50939 genome.wustl.edu 37 3 101023111 101023111 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016247.2 -1 validated p.R127Q 1.000 161 0% 85 17.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SENP7 57337 genome.wustl.edu 37 3 101066774 101066774 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020654.3 -1 validated p.S593 0.961 299 0% 97 49.5% 3 66.6% - - - NULL SENP7 57337 genome.wustl.edu 37 3 101090920 101090920 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020654.3 -1 validated p.A243V 0.000 332 0% 118 18.6% 8 25% benign(0.079) deleterious(0) neutral(0.450) NULL ZBTB11 27107 genome.wustl.edu 37 3 101370427 101370427 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014415.3 -1 validated p.V915 1.000 92 0% 69 31.9% 18 44.4% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZBTB11 27107 genome.wustl.edu 37 3 101390102 101390102 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014415.3 -1 validated p.T217I 1.000 258 0% 100 42% 5 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB FAM55C 91775 genome.wustl.edu 37 3 101540612 101540612 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134456.1 +1 validated p.S498 0.302 25 0% 34 41.2% 4 25% - - - NULL NFKBIZ 64332 genome.wustl.edu 37 3 101573480 101573480 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031419.2 +1 reviewed p.K466Q 1.000 223 0% 140 47.9% 8 12.5% benign(0.351) tolerated(0.1) neutral(0.397) HMMSmart_SM00248,superfamily_Ankyrin repeat ALCAM 214 genome.wustl.edu 37 3 105264165 105264165 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001627.2 +1 validated p.V364M 1.000 274 0% 83 47% 69 42% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CBLB 868 genome.wustl.edu 37 3 105400406 105400406 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170662.3 -1 validated p.R782M 1.000 172 0% 92 39.1% 43 41.8% probably_damaging(0.991) tolerated(0.05) deleterious(0.789) NULL BBX 56987 genome.wustl.edu 37 3 107447622 107447622 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142568.1 +1 validated p.A139V 1.000 211 0% 35 48.6% 11 54.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box BBX 56987 genome.wustl.edu 37 3 107451854 107451854 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142568.1 +1 validated p.A218V 1.000 363 0% 130 39.2% 22 40.9% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_DUF2028 CD47 961 genome.wustl.edu 37 3 107770795 107770795 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001777.3 -1 reviewed p.Q300H 0.926 347 0% 131 43.5% 53 39.6% unknown(0) - - HMMPfam_CD47 CD47 961 genome.wustl.edu 37 3 107799078 107799078 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001777.3 -1 reviewed p.V54I 0.011 478 0% 113 40.7% 57 61.4% benign(0.065) tolerated(0.38) neutral(0.022) HMMPfam_V-set_CD47 IFT57 55081 genome.wustl.edu 37 3 107932786 107932786 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018010.3 -1 validated p.E193* 1.000 832 0% 399 39.1% 17 5.8% - - - HMMPfam_IFT57 MYH15 22989 genome.wustl.edu 37 3 108129494 108129494 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014981.1 -1 validated p.K1497N 0.998 32 0% 35 34.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_tail_1 MYH15 22989 genome.wustl.edu 37 3 108156433 108156433 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014981.1 -1 validated p.S1083 1.000 319 0% 146 39% 0 - - - - HMMPfam_Myosin_tail_1 TRAT1 50852 genome.wustl.edu 37 3 108572511 108572511 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016388.2 +1 validated p.S116 0.015 166 0% 54 38.9% 1 0% - - - NULL GUCA1C 9626 genome.wustl.edu 37 3 108634947 108634947 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000393963 -1 known p.T157A 0.000 268 0% 112 18.8% 0 - probably_damaging(0.967) - - NULL MORC1 27136 genome.wustl.edu 37 3 108677858 108677858 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014429.3 -1 reviewed p.R970I 0.000 269 0% 68 35.3% 0 - benign(0.303) deleterious(0.02) deleterious(0.477) NULL MORC1 27136 genome.wustl.edu 37 3 108677919 108677919 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014429.3 -1 reviewed p.L950 1.000 163 0% 48 47.9% 0 - - - - NULL MORC1 27136 genome.wustl.edu 37 3 108698431 108698431 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014429.3 -1 reviewed p.A803G 0.000 185 0% 93 38.7% 0 - benign(0) tolerated(0.2) neutral(0.049) NULL MORC1 27136 genome.wustl.edu 37 3 108698476 108698476 + Missense_Mutation SNP G G T rs115431705 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014429.3 -1 reviewed p.S788Y 0.741 156 0% 86 41.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MORC1 27136 genome.wustl.edu 37 3 108773716 108773716 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014429.3 -1 reviewed p.V397M 0.995 301 0% 101 35.6% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL MORC1 27136 genome.wustl.edu 37 3 108818291 108818291 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014429.3 -1 reviewed p.D113Y 1.000 606 0% 143 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase DPPA4 55211 genome.wustl.edu 37 3 109056358 109056358 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018189.3 -1 validated p.R3* 0.000 115 0.9% 71 32.4% 0 - - - - NULL PVRL3 25945 genome.wustl.edu 37 3 110863836 110863836 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000493615 +1 known p.T364I 1.000 74 0% 27 37% 1 0% benign(0.101) tolerated(0.4) neutral(0.024) NULL CD96 10225 genome.wustl.edu 37 3 111264037 111264037 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198196.2 +1 reviewed p.A69D 0.331 148 0% 57 45.6% 4 25% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PLCXD2 257068 genome.wustl.edu 37 3 111427053 111427053 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153268.3 +1 validated p.S148 0.004 110 0% 42 47.6% 1 100% - - - superfamily_PLC-like_Pdiesterase_TIM-brl PHLDB2 90102 genome.wustl.edu 37 3 111672865 111672865 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134438.1 +1 validated p.R954M 1.000 58 0% 24 54.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMPRSS7 344805 genome.wustl.edu 37 3 111782417 111782417 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042575.2 +1 validated p.P372L 1.000 353 0% 202 42.6% 0 - benign(0) tolerated(0.17) neutral(0.059) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module CD200 4345 genome.wustl.edu 37 3 112066668 112066668 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004196.2 +1 reviewed p.V254I 0.000 48 0% 24 25% 19 26.3% benign(0.006) tolerated(0.12) neutral(0.261) superfamily_SSF48726 CD200R1L 344807 genome.wustl.edu 37 3 112546460 112546460 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008784.2 -1 validated p.L62V 0.000 330 0% 171 39.8% 0 - benign(0.002) tolerated(1) - superfamily_Immunoglobulin BOC 91653 genome.wustl.edu 37 3 112969572 112969572 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033254.2 +1 validated p.T90A 0.980 59 0% 52 46.2% 32 53.1% possibly_damaging(0.466) deleterious(0.03) deleterious(0.517) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin BOC 91653 genome.wustl.edu 37 3 112993272 112993272 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033254.2 +1 validated p.P429S 0.140 10 0% 12 33.3% 13 61.5% benign(0) tolerated(0.55) neutral(0.007) NULL WDR52 55779 genome.wustl.edu 37 3 113010506 113010506 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000465636 -1 known p.G958S 0.000 157 0% 76 42.1% 10 40% - - - NULL SIDT1 54847 genome.wustl.edu 37 3 113311862 113311862 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017699.2 +1 validated p.K338Q 0.998 356 0% 180 14.4% 0 - benign(0.004) deleterious(0.03) neutral(0.364) NULL KIAA2018 205717 genome.wustl.edu 37 3 113378178 113378178 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009899.2 -1 validated p.V784A 0.008 222 0% 90 12.2% 2 50% benign(0.001) tolerated(0.21) neutral(0.044) NULL ATP6V1A 523 genome.wustl.edu 37 3 113517163 113517163 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001690.2 +1 reviewed p.S455N 1.000 192 0% 111 36% 32 43.7% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_ATP-synt_ab,PatternScan_ATPASE_ALPHA_BETA,superfamily_P-loop containing nucleoside triphosphate hydrolases GRAMD1C 54762 genome.wustl.edu 37 3 113563349 113563349 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017577.4 +1 validated e2-1 0.882 299 0% 161 42.9% 0 - - - - - ZDHHC23 254887 genome.wustl.edu 37 3 113667754 113667754 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173570.3 +1 validated p.K35N 1.000 267 0% 191 42.9% 2 50% possibly_damaging(0.849) deleterious(0.02) deleterious(0.709) NULL KIAA1407 57577 genome.wustl.edu 37 3 113723501 113723501 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020817.1 -1 predicted p.P654L 0.038 236 0% 88 47.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DRD3 1814 genome.wustl.edu 37 3 113850124 113850124 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000796.3 -1 reviewed p.R283W 0.003 236 0% 113 39.8% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF80 7634 genome.wustl.edu 37 3 113955493 113955493 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007136.3 -1 validated p.S143 0.000 79 0% 52 23.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZBTB20 26137 genome.wustl.edu 37 3 114057884 114057884 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015642.4 -1 validated p.D659N 1.000 28 0% 32 50% 1 100% possibly_damaging(0.873) tolerated(0.11) deleterious(0.611) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 LSAMP 4045 genome.wustl.edu 37 3 116163741 116163741 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002338.3 -1 reviewed p.G46 1.000 24 0% 18 44.4% 0 - - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 ARHGAP31 57514 genome.wustl.edu 37 3 119120969 119120969 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020754.2 +1 reviewed p.S457L 0.998 33 0% 38 31.6% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ARHGAP31 57514 genome.wustl.edu 37 3 119128358 119128358 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020754.2 +1 reviewed p.K554T 0.999 60 0% 37 45.9% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TMEM39A 55254 genome.wustl.edu 37 3 119155679 119155679 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018266.1 -1 provisional p.Q357 1.000 58 0% 30 50% 48 39.5% - - - HMMPfam_Tmp39 POGLUT1 56983 genome.wustl.edu 37 3 119205772 119205772 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152305.2 +1 validated p.S244Y 1.000 209 0% 87 41.4% 8 50% possibly_damaging(0.877) tolerated(0.16) neutral(0.401) HMMSmart_SM00672,HMMPfam_DUF821 TIMMDC1 51300 genome.wustl.edu 37 3 119219564 119219564 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016589.3 +1 validated p.D73N 1.000 234 0% 110 37.3% 69 47.8% benign(0.069) deleterious(0) neutral(0.449) NULL CD80 941 genome.wustl.edu 37 3 119256154 119256154 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005191.3 -1 validated p.E177G 1.000 124 0% 45 44.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_C2-set_2,superfamily_Immunoglobulin POPDC2 64091 genome.wustl.edu 37 3 119379025 119379025 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022135.2 -1 reviewed p.F82 0.975 42 0% 28 53.6% 1 0% - - - NULL C3orf15 89876 genome.wustl.edu 37 3 119449080 119449080 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033364.3 +1 validated p.R292C 1.000 232 0% 110 46.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GSK3B 2932 genome.wustl.edu 37 3 119624629 119624629 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002093.3 -1 reviewed p.G262 0.984 465 0% 171 42.7% 22 50% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GSK3B 2932 genome.wustl.edu 37 3 119634964 119634964 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002093.3 -1 reviewed p.H179N 1.000 155 0% 72 45.8% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase GSK3B 2932 genome.wustl.edu 37 3 119666149 119666149 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002093.3 -1 reviewed p.R111Q 1.000 248 0% 104 45.2% 20 45% benign(0.36) tolerated(0.48) neutral(0.125) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GPR156 165829 genome.wustl.edu 37 3 119886274 119886274 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153002.2 -1 validated p.E684* 0.055 17 0% 11 36.4% 0 - - - - NULL GPR156 165829 genome.wustl.edu 37 3 119887175 119887175 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153002.2 -1 validated p.I383 0.566 24 0% 24 29.2% 0 - - - - NULL GPR156 165829 genome.wustl.edu 37 3 119912217 119912217 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153002.2 -1 validated p.C96 1.000 166 0% 70 35.7% 2 0% - - - HMMPfam_7tm_3 STXBP5L 9515 genome.wustl.edu 37 3 120976036 120976036 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014980.2 +1 validated p.V563A 0.998 232 0% 102 43.1% 1 100% benign(0.019) tolerated(0.08) neutral(0.301) NULL GOLGB1 2804 genome.wustl.edu 37 3 121386961 121386961 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004487.3 -1 validated p.K3117N 1.000 263 0% 110 42.7% 30 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GOLGB1 2804 genome.wustl.edu 37 3 121411334 121411334 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004487.3 -1 validated p.E2288* 1.000 241 0% 118 47.5% 23 17.3% - - - HMMSmart_SM00340 GOLGB1 2804 genome.wustl.edu 37 3 121413932 121413932 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004487.3 -1 validated p.R1808I 0.002 238 0% 116 45.7% 20 30% possibly_damaging(0.929) deleterious(0.04) deleterious(0.725) NULL GOLGB1 2804 genome.wustl.edu 37 3 121415055 121415055 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004487.3 -1 validated p.D1434Y 0.974 295 0% 128 41.4% 9 22.2% possibly_damaging(0.509) deleterious(0.01) deleterious(0.576) superfamily_Prefoldin GOLGB1 2804 genome.wustl.edu 37 3 121421433 121421433 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004487.3 -1 validated p.E467K 0.977 238 0% 69 34.8% 10 80% probably_damaging(0.987) tolerated(0.06) deleterious(0.759) NULL CASR 846 genome.wustl.edu 37 3 121980495 121980495 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000388.3 +1 reviewed p.R205C 1.000 60 0% 53 52.8% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CASR 846 genome.wustl.edu 37 3 121981125 121981125 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000388.3 +1 reviewed p.R415W 1.000 132 0.8% 73 47.9% 0 - possibly_damaging(0.501) deleterious(0) deleterious(0.612) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CASR 846 genome.wustl.edu 37 3 122003185 122003185 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000388.3 +1 reviewed p.R795Q 1.000 28 0% 23 39.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_3 CASR 846 genome.wustl.edu 37 3 122003473 122003473 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000388.3 +1 reviewed p.R891H 1.000 12 0% 16 50% 0 - benign(0.016) tolerated(0.28) neutral(0.032) NULL CASR 846 genome.wustl.edu 37 3 122003845 122003845 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000388.3 +1 reviewed p.P1015L 0.998 43 0% 41 31.7% 0 - benign(0.141) deleterious(0) neutral(0.457) NULL KPNA1 3836 genome.wustl.edu 37 3 122145778 122145778 + RNA SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_026698.1 -1 reviewed NULL 1.000 70 0% 46 50% 23 39.1% - - - - PARP9 83666 genome.wustl.edu 37 3 122259555 122259555 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031458.2 -1 validated p.I545T 0.024 172 0% 117 41.9% 10 20% benign(0.004) deleterious(0.01) neutral(0.406) NULL DTX3L 151636 genome.wustl.edu 37 3 122288250 122288250 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138287.3 +1 validated p.I438 0.028 126 0% 72 37.5% 11 63.6% - - - NULL DTX3L 151636 genome.wustl.edu 37 3 122288533 122288533 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138287.3 +1 validated p.D533N 0.000 105 0% 60 35% 6 16.6% benign(0.001) tolerated(0.34) neutral(0.023) NULL HSPBAP1 79663 genome.wustl.edu 37 3 122459317 122459317 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024610.4 -1 provisional p.I448V 0.000 301 0% 160 26.9% 4 0% benign(0) tolerated(0.95) - NULL HSPBAP1 79663 genome.wustl.edu 37 3 122459660 122459660 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024610.4 -1 provisional p.F333 0.004 227 0% 94 48.9% 6 66.6% - - - NULL SEMA5B 54437 genome.wustl.edu 37 3 122646785 122646785 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031702.2 -1 validated p.R234 0.698 24 0% 34 52.9% 2 100% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain PDIA5 10954 genome.wustl.edu 37 3 122865056 122865056 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000316218 +1 known p.Y364 0.397 71 0% 39 41% 56 46.4% - - - superfamily_Thiordxn-like_fd MYLK 4638 genome.wustl.edu 37 3 123411644 123411644 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053025.3 -1 reviewed p.Y1168C 1.000 25 0% 28 17.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CCDC14 64770 genome.wustl.edu 37 3 123665877 123665877 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022757.4 -1 validated p.R332Q 0.000 386 0% 239 45.2% 20 60% benign(0.006) tolerated(0.64) neutral(0.003) NULL KALRN 8997 genome.wustl.edu 37 3 124114000 124114000 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024660.3 +1 reviewed p.D659Y 1.000 70 0% 51 43.1% 1 0% possibly_damaging(0.776) deleterious(0.02) deleterious(0.672) HMMSmart_SM00150,superfamily_Spectrin repeat KALRN 8997 genome.wustl.edu 37 3 124157874 124157874 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024660.3 +1 reviewed p.A1061V 1.000 200 0% 74 41.9% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL KALRN 8997 genome.wustl.edu 37 3 124385350 124385350 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024660.3 +1 reviewed p.E2133K 0.999 19 0% 18 50% 4 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like UMPS 7372 genome.wustl.edu 37 3 124462840 124462840 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000373.3 +1 reviewed p.R451H 1.000 169 0% 126 42.9% 49 46.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OMPdecase,superfamily_Ribulose-phoshate binding barrel HEG1 57493 genome.wustl.edu 37 3 124692663 124692663 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020733.1 -1 validated p.R1303H 1.000 343 0% 171 45.6% 5 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ZNF148 7707 genome.wustl.edu 37 3 124952029 124952029 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021964.2 -1 validated p.T514M 1.000 165 0% 56 33.9% 19 52.6% probably_damaging(0.989) tolerated(0.11) deleterious(0.711) NULL ZNF148 7707 genome.wustl.edu 37 3 124952374 124952374 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021964.2 -1 validated p.R399I 1.000 455 0% 127 37% 5 40% possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) NULL ZNF148 7707 genome.wustl.edu 37 3 124953163 124953163 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021964.2 -1 validated p.P226 1.000 366 0% 114 41.2% 5 20% - - - superfamily_SSF57667 SLC41A3 54946 genome.wustl.edu 37 3 125745308 125745308 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008485.1 -1 validated p.V156 0.707 18 0% 10 80% 18 33.3% - - - HMMPfam_MgtE ALDH1L1 10840 genome.wustl.edu 37 3 125828901 125828901 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012190.2 -1 reviewed p.D745N 1.000 53 0% 48 50% 1 0% benign(0) tolerated(0.5) neutral(0.010) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH ZXDC 79364 genome.wustl.edu 37 3 126180928 126180928 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025112.4 -1 validated p.A526V 0.000 29 0% 16 37.5% 9 55.5% benign(0) tolerated(0.14) neutral(0.249) NULL UROC1 131669 genome.wustl.edu 37 3 126224567 126224567 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144639.2 -1 reviewed p.G264R 1.000 11 0.000 8 0.625 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_Urocanase,superfamily_Urocanase PLXNA1 5361 genome.wustl.edu 37 3 126708282 126708282 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032242.3 +1 validated p.I259 0.814 14 0% 18 61.1% 29 44.8% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain PLXNA1 5361 genome.wustl.edu 37 3 126708492 126708492 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032242.3 +1 validated p.P329 1.000 29 0% 12 50% 19 63.1% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain PLXNA1 5361 genome.wustl.edu 37 3 126734094 126734094 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032242.3 +1 validated p.E959G 1.000 12 0% 19 26.3% 15 33.3% benign(0.406) tolerated(0.32) neutral(0.154) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PLXNA1 5361 genome.wustl.edu 37 3 126736615 126736615 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032242.3 +1 validated p.A1157 0.001 21 0% 19 36.8% 49 51% - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains TPRA1 131601 genome.wustl.edu 37 3 127294317 127294317 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000393400 -1 known p.S214F 1.000 16 0% 14 28.6% 69 39.1% benign(0.238) - - HMMPfam_Tmemb_40,PatternScan_PEROXIDASE_2 MCM2 4171 genome.wustl.edu 37 3 127325070 127325070 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000491422 +1 known p.R124K 1.000 33 0% 39 33.3% 68 55.8% - - - superfamily_Nucleic acid-binding proteins PODXL2 50512 genome.wustl.edu 37 3 127379519 127379519 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015720.2 +1 validated p.G216 0.008 42 0% 38 47.4% 61 67.2% - - - NULL PODXL2 50512 genome.wustl.edu 37 3 127390412 127390412 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015720.2 +1 validated p.L521F 0.987 12 0% 15 46.7% 78 37.1% probably_damaging(0.956) deleterious(0.03) deleterious(0.764) HMMPfam_CD34_antigen MGLL 11343 genome.wustl.edu 37 3 127441359 127441359 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007283.5 -1 validated p.V105I 0.975 60 0% 61 42.6% 23 43.4% benign(0) tolerated(0.56) neutral(0.006) HMMPfam_Abhydrolase_1,superfamily_SSF53474 KBTBD12 166348 genome.wustl.edu 37 3 127642821 127642821 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207335.2 +1 validated p.R306Q 0.007 191 0% 127 48.8% 0 - benign(0.002) tolerated(0.5) neutral(0.010) superfamily_Galactose oxidase central domain RUVBL1 8607 genome.wustl.edu 37 3 127806561 127806561 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003707.2 -1 validated p.Q369H 0.999 158 0% 100 37% 73 65.7% benign(0.013) deleterious(0.04) neutral(0.349) HMMPfam_TIP49,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAJB8 165721 genome.wustl.edu 37 3 128182004 128182004 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153330.2 -1 validated p.R29C 1.000 97 0% 85 82.4% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain RAB7A 7879 genome.wustl.edu 37 3 128532194 128532194 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004637.5 +1 reviewed p.E185K 1.000 92 0% 37 43.2% 225 45.3% benign(0.237) deleterious(0.01) neutral(0.429) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases ACAD9 28976 genome.wustl.edu 37 3 128614260 128614260 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014049.4 +1 reviewed e4+1 1.000 54 0% 38 47.4% 6 100% - - - - KIAA1257 57501 genome.wustl.edu 37 3 128690233 128690233 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020741.2 -1 predicted p.R355 0.000 240 0% 163 39.3% 1 0% - - - NULL COPG1 22820 genome.wustl.edu 37 3 128984412 128984412 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016128.3 +1 validated p.R415 0.129 42 0% 44 54.5% 224 48.2% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat IFT122 55764 genome.wustl.edu 37 3 129196904 129196904 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052985.2 +1 reviewed p.R449I 0.999 206 0% 113 49.6% 8 12.5% benign(0.115) deleterious(0.02) neutral(0.392) NULL IFT122 55764 genome.wustl.edu 37 3 129207157 129207157 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052985.2 +1 reviewed p.A688T 1.000 101 0% 69 36.2% 7 85.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RHO 6010 genome.wustl.edu 37 3 129249788 129249788 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000539.3 +1 reviewed p.S144N 1.000 28 0% 32 50% 0 - benign(0.197) deleterious(0) neutral(0.463) HMMPfam_7tm_1,superfamily_SSF81321 PLXND1 23129 genome.wustl.edu 37 3 129294392 129294392 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015103.2 -1 validated p.R817Q 0.986 21 0% 19 31.6% 16 25% benign(0.001) tolerated(0.68) neutral(0.002) NULL COL6A5 256076 genome.wustl.edu 37 3 130120660 130120660 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153264.5 +1 validated p.P1397T 0.579 121 0% 38 42.1% 0 - benign(0.006) - - HMMPfam_Collagen COL6A5 256076 genome.wustl.edu 37 3 130159320 130159320 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153264.5 +1 validated p.Q2046H 0.928 127 0% 48 35.4% 0 - benign(0) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130159634 130159634 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153264.5 +1 validated p.A2151V 0.077 246 0% 58 41.4% 0 - benign(0) - - HMMSmart_VWA,superfamily_SSF53300 COL6A6 131873 genome.wustl.edu 37 3 130289701 130289701 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102608.1 +1 provisional p.I814S 0.996 147 0% 64 42.2% 1 0% probably_damaging(0.965) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PIK3R4 30849 genome.wustl.edu 37 3 130409456 130409456 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014602.2 -1 validated p.T1047 0.028 142 0% 54 42.6% 24 62.5% - - - HMMSmart_WD40,superfamily_WD40_like PIK3R4 30849 genome.wustl.edu 37 3 130435419 130435419 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014602.2 -1 validated p.S718G 1.000 111 0% 50 36% 11 63.6% probably_damaging(0.974) tolerated(0.28) neutral(0.448) NULL PIK3R4 30849 genome.wustl.edu 37 3 130463795 130463795 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014602.2 -1 validated p.A90T 0.999 191 0% 89 44.9% 3 33.3% benign(0) tolerated(0.27) neutral(0.034) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like ASTE1 28990 genome.wustl.edu 37 3 130732911 130732911 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014065.2 -1 validated p.N677S 0.001 183 0.5% 64 54.7% 6 33.3% benign(0) tolerated(0.08) neutral(0.300) NULL ASTE1 28990 genome.wustl.edu 37 3 130742900 130742900 + Silent SNP A A G rs34597185 byCluster;byFrequency;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014065.2 -1 validated p.I417 0.000 83 0% 35 25.7% 3 0% - - - NULL CPNE4 131034 genome.wustl.edu 37 3 131388553 131388553 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130808.1 -1 reviewed p.S216Y 1.000 122 0% 39 28.2% 1 100% possibly_damaging(0.772) deleterious(0.01) deleterious(0.693) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) DNAJC13 23317 genome.wustl.edu 37 3 132179159 132179159 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015268.3 +1 validated p.K505N 1.000 213 0% 61 34.4% 5 80% benign(0.099) tolerated(0.23) neutral(0.049) superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132186054 132186054 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015268.3 +1 validated p.R702K 1.000 262 0% 147 36.1% 4 25% benign(0.002) tolerated(1) - superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132199244 132199244 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015268.3 +1 validated p.G935E 1.000 169 0% 55 36.4% 6 16.6% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132209752 132209752 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015268.3 +1 validated p.Q1160 1.000 101 0% 40 60% 9 44.4% - - - superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132211376 132211376 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015268.3 +1 validated p.E1248K 1.000 235 0% 81 46.9% 11 27.2% benign(0.021) deleterious(0.02) neutral(0.384) superfamily_ARM repeat UBA5 79876 genome.wustl.edu 37 3 132394502 132394502 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024818.3 +1 reviewed p.I334M 0.930 270 0% 79 16.5% 21 9.5% unknown(0) tolerated(0.13) - superfamily_MoeB NPHP3 27031 genome.wustl.edu 37 3 132427038 132427038 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153240.3 -1 reviewed p.I394 0.985 337 0% 171 45.6% 4 0% - - - NULL SRPRB 58477 genome.wustl.edu 37 3 133534432 133534432 + Splice_Site SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021203.3 +1 reviewed e5-2 1.000 129 0% 89 15.7% 1 0% - - - - RAB6B 51560 genome.wustl.edu 37 3 133557013 133557013 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016577.3 -1 validated p.K164N 1.000 34 0% 25 44% 5 80% benign(0.151) tolerated(0.29) neutral(0.043) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SLCO2A1 6578 genome.wustl.edu 37 3 133663938 133663938 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005630.2 -1 validated e10+1 1.000 23 0% 23 34.8% 0 - - - - - AMOTL2 51421 genome.wustl.edu 37 3 134085175 134085175 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016201.2 -1 reviewed p.K379T 1.000 93 0% 61 45.9% 25 48% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL EPHB1 2047 genome.wustl.edu 37 3 134911473 134911473 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004441.4 +1 reviewed p.I646 1.000 76 0% 41 56.1% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP PPP2R3A 5523 genome.wustl.edu 37 3 135809480 135809480 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002718.3 +1 reviewed p.I966 0.994 426 0% 112 46.4% 10 40% - - - superfamily_EF-hand PCCB 5096 genome.wustl.edu 37 3 135975432 135975432 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000462542 +1 known p.E69G 1.000 414 0% 249 41.8% 36 50% - - - HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase SLC35G2 80723 genome.wustl.edu 37 3 136573929 136573929 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001097599.1 +1 validated p.L209 1.000 147 0% 100 49% 4 25% - - - HMMPfam_DUF6,superfamily_SSF103481 IL20RB 53833 genome.wustl.edu 37 3 136710897 136710897 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144717.2 +1 validated p.A217T 0.995 74 0% 47 46.8% 2 0% benign(0.273) tolerated(0.67) neutral(0.032) superfamily_Fibronectin type III SOX14 8403 genome.wustl.edu 37 3 137483747 137483747 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004189.2 +1 reviewed p.R41C 1.000 38 0% 39 38.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box CLDN18 51208 genome.wustl.edu 37 3 137749869 137749869 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002026.2 +1 validated p.G224 1.000 84 0% 67 43.3% 0 - - - - NULL CLDN18 51208 genome.wustl.edu 37 3 137749971 137749971 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002026.2 +1 validated p.H258Q 0.215 75 0% 37 37.8% 0 - benign(0.032) deleterious(0.01) neutral(0.407) NULL DZIP1L 199221 genome.wustl.edu 37 3 137783573 137783573 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173543.2 -1 validated p.K680R 0.899 88 0% 58 46.6% 0 - probably_damaging(0.955) tolerated(0.4) neutral(0.415) NULL DZIP1L 199221 genome.wustl.edu 37 3 137811252 137811252 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173543.2 -1 validated p.V281 0.901 477 0% 206 42.7% 0 - - - - NULL DZIP1L 199221 genome.wustl.edu 37 3 137822728 137822728 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173543.2 -1 validated p.R29H 0.969 9 0.000 8 0.500 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DBR1 51163 genome.wustl.edu 37 3 137881065 137881065 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016216.2 -1 validated p.E434G 0.990 141 0% 111 40.5% 17 82.3% benign(0.4) deleterious(0.02) deleterious(0.512) NULL DBR1 51163 genome.wustl.edu 37 3 137882683 137882683 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016216.2 -1 validated p.Q244H 0.821 383 0% 192 42.7% 9 44.4% possibly_damaging(0.911) tolerated(0.07) deleterious(0.682) HMMPfam_DBR1 MRAS 22808 genome.wustl.edu 37 3 138091807 138091807 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001085049.1 +1 validated p.A28T 1.000 30 0% 29 41.4% 7 42.8% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ESYT3 83850 genome.wustl.edu 37 3 138179467 138179467 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031913.3 +1 validated p.N251 1.000 59 0% 50 46% 2 50% - - - NULL CEP70 80321 genome.wustl.edu 37 3 138256053 138256053 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024491.2 -1 validated p.C201Y 1.000 339 0.3% 184 54.9% 10 50% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) NULL PRR23B 389151 genome.wustl.edu 37 3 138738766 138738766 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013650.2 -1 validated p.A246 0.000 7 0.000 16 0.312 0 - - - - HMMPfam_DUF2476 COPB2 9276 genome.wustl.edu 37 3 139081313 139081313 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004766.2 -1 validated p.R644H 1.000 200 0% 77 49.4% 151 34.4% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_Coatomer_WDAD CLSTN2 64084 genome.wustl.edu 37 3 140123541 140123541 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022131.2 +1 validated p.P190 0.069 54 0% 19 21.1% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ACPL2 92370 genome.wustl.edu 37 3 141011382 141011382 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037172.1 +1 validated p.R260C 0.998 57 0% 34 70.6% 13 23% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like ACPL2 92370 genome.wustl.edu 37 3 141011391 141011391 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037172.1 +1 validated p.L263I 0.998 55 0% 36 11.1% 14 42.8% possibly_damaging(0.731) tolerated(0.47) neutral(0.278) HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like ACPL2 92370 genome.wustl.edu 37 3 141011559 141011559 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037172.1 +1 validated p.E319K 1.000 70 0% 40 42.5% 14 50% possibly_damaging(0.905) tolerated(0.07) deleterious(0.678) HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like ZBTB38 253461 genome.wustl.edu 37 3 141162840 141162840 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080412.2 +1 validated p.S537Y 1.000 64 0% 34 47.1% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 RASA2 5922 genome.wustl.edu 37 3 141290306 141290306 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006506.2 +1 reviewed p.A360D 1.000 335 0.3% 181 12.7% 3 33.3% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMSmart_RasGAP,superfamily_Rho_GAP ATR 545 genome.wustl.edu 37 3 142241635 142241635 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001184.3 -1 reviewed p.T1401A 1.000 211 0% 80 18.8% 3 0% benign(0.021) tolerated(0.48) neutral(0.011) superfamily_ARM repeat ATR 545 genome.wustl.edu 37 3 142269004 142269004 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001184.3 -1 reviewed p.F982 1.000 137 0% 61 49.2% 4 50% - - - superfamily_ARM repeat SLC9A9 285195 genome.wustl.edu 37 3 143185984 143185984 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173653.3 -1 reviewed p.S455Y 0.998 135 0% 73 27.4% 1 0% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Na_H_Exchanger C3orf58 205428 genome.wustl.edu 37 3 143708517 143708517 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173552.3 +1 validated p.G376V 1.000 103 0% 57 49.1% 14 42.8% possibly_damaging(0.697) tolerated(0.05) deleterious(0.595) NULL C3orf58 205428 genome.wustl.edu 37 3 143708634 143708634 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173552.3 +1 validated p.A415G 1.000 65 0% 39 30.8% 14 28.5% probably_damaging(0.99) tolerated(0.17) deleterious(0.500) NULL PLOD2 5352 genome.wustl.edu 37 3 145794621 145794621 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182943.2 -1 reviewed p.Y542C 1.000 313 0% 61 27.9% 20 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PLOD2 5352 genome.wustl.edu 37 3 145804578 145804578 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182943.2 -1 reviewed p.G375* 1.000 474 0% 167 37.7% 37 16.2% - - - NULL PLOD2 5352 genome.wustl.edu 37 3 145824365 145824365 + Missense_Mutation SNP T T G rs189340894 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182943.2 -1 reviewed p.D190A 1.000 337 0% 134 38.8% 27 77.7% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ZIC4 84107 genome.wustl.edu 37 3 147113783 147113783 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000383075 -1 known p.G182R 1.000 25 0% 31 54.8% 0 - possibly_damaging(0.906) tolerated(0.06) deleterious(0.682) HMMSmart_SM00355 CPB1 1360 genome.wustl.edu 37 3 148558746 148558746 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000479862 +1 known e5+2 0.003 172 0% 71 49.3% 0 - benign(0.074) deleterious(0) neutral(0.450) - CPB1 1360 genome.wustl.edu 37 3 148562467 148562467 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001871.2 +1 reviewed p.R231* 1.000 167 0% 89 48.3% 0 - - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases HLTF 6596 genome.wustl.edu 37 3 148752778 148752778 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003071.3 -1 reviewed p.N935T 1.000 203 0% 129 32.6% 26 38.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases HPS3 84343 genome.wustl.edu 37 3 148858169 148858169 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032383.3 +1 reviewed p.A199V 0.969 372 0% 154 40.9% 7 42.8% probably_damaging(0.955) deleterious(0.01) deleterious(0.804) NULL CP 1356 genome.wustl.edu 37 3 148894052 148894052 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000096.3 -1 reviewed p.V1056I 0.352 247 0% 78 52.6% 58 51.7% probably_damaging(0.995) tolerated(0.12) deleterious(0.718) superfamily_Cupredoxins,HMMPfam_Cu-oxidase_2 CP 1356 genome.wustl.edu 37 3 148927133 148927133 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000096.3 -1 reviewed p.E216K 1.000 211 0% 96 40.6% 22 36.3% possibly_damaging(0.815) tolerated(0.07) deleterious(0.627) superfamily_Cupredoxins ANKUB1 389161 genome.wustl.edu 37 3 149485707 149485707 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144960.1 -1 predicted p.A248T 1.000 50 0% 36 55.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00248,superfamily_Ankyrin repeat RNF13 11342 genome.wustl.edu 37 3 149613337 149613337 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000361785 +1 known p.D11A 1.000 188 0% 89 46.1% 22 50% unknown(0) tolerated(0.1) - NULL TMEM183B 653659 genome.wustl.edu 37 3 149700263 149700263 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079809.1 -1 validated p.P278H 0.965 228 0% 161 44.1% 121 0.8% - - - NULL TSC22D2 9819 genome.wustl.edu 37 3 150176284 150176284 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014779.2 +1 provisional p.S735F 1.000 184 0% 68 44.1% 11 72.7% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_TSC22 ENSG00000198843 0 genome.wustl.edu 37 3 150344831 150344831 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000361622 +1 known p.H166 1.000 164 0.6% 98 50% 110 40.9% - - - HMMPfam_SelT SIAH2 6478 genome.wustl.edu 37 3 150460066 150460066 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005067.5 -1 reviewed p.T279 0.322 27 3.7% 22 40.9% 72 41.6% - - - superfamily_Traf_like,HMMPfam_Sina CLRN1 7401 genome.wustl.edu 37 3 150645955 150645955 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174878.2 -1 reviewed p.A156D 1.000 202 0% 79 32.9% 0 - possibly_damaging(0.909) deleterious(0.05) deleterious(0.708) NULL MED12L 116931 genome.wustl.edu 37 3 151093923 151093923 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053002.4 +1 reviewed p.L1290R 0.999 152 0.7% 62 38.7% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MED12L 116931 genome.wustl.edu 37 3 151112649 151112649 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053002.4 +1 reviewed p.F1903L 1.000 33 0% 14 64.3% 5 40% benign(0) tolerated(0.66) neutral(0.003) NULL MED12L 116931 genome.wustl.edu 37 3 151134183 151134183 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053002.4 +1 reviewed p.L2092 1.000 19 0% 23 26.1% 7 0% - - - NULL IGSF10 285313 genome.wustl.edu 37 3 151156275 151156275 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178822.4 -1 validated p.D2025G 1.000 263 0% 115 47% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin IGSF10 285313 genome.wustl.edu 37 3 151163622 151163622 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178822.4 -1 validated p.E1383K 0.000 132 0% 74 47.3% 1 0% benign(0) deleterious(0.01) neutral(0.406) NULL IGSF10 285313 genome.wustl.edu 37 3 151164232 151164232 + Silent SNP C C T rs181702818 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178822.4 -1 validated p.S1179 0.000 311 0% 143 49.7% 0 - - - - NULL IGSF10 285313 genome.wustl.edu 37 3 151171535 151171535 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178822.4 -1 validated p.R118 0.713 105 0% 33 30.3% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like AADACL2 344752 genome.wustl.edu 37 3 151451931 151451931 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207365.3 +1 validated p.L36F 0.017 487 0.2% 163 48.5% 0 - unknown(0) deleterious(0) - NULL AADAC 13 genome.wustl.edu 37 3 151545576 151545576 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001086.2 +1 reviewed p.V272 0.205 94 0% 38 52.6% 0 - - - - HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases P2RY1 5028 genome.wustl.edu 37 3 152553731 152553731 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002563.2 +1 reviewed p.L54M 1.000 26 0% 30 36.7% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 GPR149 344758 genome.wustl.edu 37 3 154146783 154146783 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001038705.1 -1 provisional p.L208I 0.253 16 0% 12 33.3% 0 - possibly_damaging(0.798) deleterious(0) deleterious(0.745) NULL MME 4311 genome.wustl.edu 37 3 154802049 154802049 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000902.3 +1 reviewed p.L31 0.986 104 0% 54 37% 4 75% - - - NULL MME 4311 genome.wustl.edu 37 3 154802094 154802094 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000902.3 +1 reviewed p.I46 0.006 86 0% 45 42.2% 3 0% - - - NULL MME 4311 genome.wustl.edu 37 3 154834501 154834501 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000902.3 +1 reviewed p.D163G 0.039 232 0% 63 39.7% 2 50% benign(0.011) tolerated(0.37) neutral(0.019) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" PLCH1 23007 genome.wustl.edu 37 3 155199720 155199720 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130960.1 -1 validated p.T1373 0.000 69 0% 36 41.7% 6 50% - - - NULL PLCH1 23007 genome.wustl.edu 37 3 155200141 155200141 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130960.1 -1 validated p.G1233D 0.002 90 0% 70 37.1% 15 33.3% benign(0) tolerated(0.64) neutral(0.003) NULL PLCH1 23007 genome.wustl.edu 37 3 155200461 155200461 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130960.1 -1 validated p.S1126 0.029 105 0% 76 50% 8 62.5% - - - NULL SLC33A1 9197 genome.wustl.edu 37 3 155571463 155571463 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004733.2 -1 reviewed p.D108 1.000 41 0% 35 37.1% 21 42.8% - - - superfamily_MFS general substrate transporter SSR3 6747 genome.wustl.edu 37 3 156266745 156266745 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007107.2 -1 reviewed p.K103T 1.000 574 0% 240 42.5% 114 42.9% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_TRAP-gamma ENSG00000197980 0 genome.wustl.edu 37 3 156660454 156660454 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000440145 +1 known p.Q232H 0.864 188 0% 50 14% 0 - benign(0.002) tolerated(0.29) neutral(0.029) NULL LEKR1 389170 genome.wustl.edu 37 3 156729232 156729232 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004316.2 +1 validated p.S76 1.000 275 0% 118 44.1% 0 - - - - NULL CCNL1 57018 genome.wustl.edu 37 3 156867873 156867873 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020307.2 -1 validated p.R287K 1.000 247 0% 110 40% 18 61.1% benign(0) tolerated(0.63) neutral(0.004) HMMSmart_SM00385,superfamily_Cyclin-like CCNL1 57018 genome.wustl.edu 37 3 156870835 156870835 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020307.2 -1 validated p.H200R 1.000 262 0% 91 50.5% 20 55% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_Cyclin-like VEPH1 79674 genome.wustl.edu 37 3 157131702 157131702 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024621.2 -1 validated p.R292 0.661 252 0% 70 41.4% 4 50% - - - NULL SHOX2 6474 genome.wustl.edu 37 3 157820658 157820658 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006884.3 -1 reviewed p.D122N 1.000 76 0% 66 60.6% 1 0% benign(0.045) tolerated(0.38) neutral(0.020) NULL RSRC1 51319 genome.wustl.edu 37 3 158254944 158254944 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016625.2 +1 provisional p.S239Y 1.000 194 0% 46 45.7% 29 44.8% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL MLF1 4291 genome.wustl.edu 37 3 158310254 158310254 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022443.3 +1 validated p.R27* 0.911 316 0% 117 45.3% 9 0% - - - HMMPfam_Mlf1IP MLF1 4291 genome.wustl.edu 37 3 158310333 158310333 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022443.3 +1 validated p.N53S 0.000 431 0% 166 38.6% 10 100% benign(0.021) tolerated(0.15) neutral(0.242) HMMPfam_Mlf1IP GFM1 85476 genome.wustl.edu 37 3 158376716 158376716 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024996.5 +1 reviewed p.G363 0.976 168 0% 73 24.7% 9 33.3% - - - superfamily_Translat_factor GFM1 85476 genome.wustl.edu 37 3 158399904 158399904 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024996.5 +1 reviewed p.F574 0.117 163 0% 85 41.2% 7 14.2% - - - HMMPfam_EFG_IV,superfamily_Ribosomal_S5_D2-typ_fold MFSD1 64747 genome.wustl.edu 37 3 158539861 158539861 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022736.2 +1 validated p.A337T 1.000 154 0% 77 41.6% 20 35% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_MFS_1,superfamily_MFS general substrate transporter KPNA4 3840 genome.wustl.edu 37 3 160254612 160254612 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002268.3 -1 reviewed p.R29Q 1.000 692 0.1% 264 38.3% 24 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IBB OTOL1 131149 genome.wustl.edu 37 3 161214860 161214860 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080440.1 +1 provisional p.N89H 1.000 283 0% 83 56.6% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL SI 6476 genome.wustl.edu 37 3 164700061 164700061 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001041.3 -1 reviewed p.S1795 0.000 422 0% 105 52.4% 0 - - - - NULL SI 6476 genome.wustl.edu 37 3 164709231 164709231 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001041.3 -1 reviewed p.T1673I 0.000 231 0% 74 50% 0 - benign(0.01) deleterious(0.04) neutral(0.349) HMMPfam_Glyco_hydro_31 SI 6476 genome.wustl.edu 37 3 164741405 164741405 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001041.3 -1 reviewed p.L1018F 0.965 292 0% 60 55% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SLITRK3 22865 genome.wustl.edu 37 3 164906034 164906034 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014926.2 -1 validated p.H862R 1.000 66 0% 44 47.7% 0 - benign(0.202) deleterious(0) neutral(0.464) NULL SLITRK3 22865 genome.wustl.edu 37 3 164907238 164907238 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014926.2 -1 validated p.L461F 1.000 84 0% 49 44.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 SLITRK3 22865 genome.wustl.edu 37 3 164907324 164907324 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014926.2 -1 validated p.S432Y 1.000 63 0% 45 60% 0 - probably_damaging(0.953) deleterious(0.05) deleterious(0.742) superfamily_SSF52058 ZBBX 79740 genome.wustl.edu 37 3 167000277 167000277 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024687.2 -1 validated p.K629T 0.004 140 0% 85 32.9% 0 - benign(0) tolerated(0.23) neutral(0.042) NULL PDCD10 11235 genome.wustl.edu 37 3 167402117 167402117 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007217.3 -1 reviewed p.Q206H 1.000 323 0% 97 40.2% 44 43.1% benign(0.211) tolerated(0.56) neutral(0.027) NULL GOLIM4 27333 genome.wustl.edu 37 3 167762637 167762637 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014498.3 -1 reviewed p.N115 1.000 294 0% 98 42.9% 39 58.9% - - - NULL MIR551B 693136 genome.wustl.edu 37 3 168269703 168269703 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000384984 +1 known NULL 1.000 204 0% 97 46.4% 0 - - - - - ENSG00000206777 0 genome.wustl.edu 37 3 169438043 169438043 + RNA SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000384050 -1 novel NULL 0.173 137 0% 30 26.7% 0 - - - - - MYNN 55892 genome.wustl.edu 37 3 169496757 169496757 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018657.3 +1 provisional p.S156 1.000 82 0% 65 55.4% 3 33.3% - - - NULL MYNN 55892 genome.wustl.edu 37 3 169497147 169497147 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018657.3 +1 provisional p.A286 1.000 56 0% 37 43.2% 19 42.1% - - - NULL MYNN 55892 genome.wustl.edu 37 3 169497265 169497265 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018657.3 +1 provisional p.G326* 1.000 98 0% 36 66.7% 13 46.1% - - - superfamily_C2H2 and C2HC zinc fingers LRRC34 151827 genome.wustl.edu 37 3 169514609 169514609 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153353.4 -1 validated p.I233L 0.759 190 0% 107 39.3% 1 100% benign(0.003) tolerated(0.25) neutral(0.037) HMMSmart_SM00368,superfamily_RNI-like SAMD7 344658 genome.wustl.edu 37 3 169644784 169644784 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182610.2 +1 provisional p.T245M 0.000 68 0% 55 63.6% 0 - benign(0.193) deleterious(0) neutral(0.463) NULL GPR160 26996 genome.wustl.edu 37 3 169802025 169802025 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014373.2 +1 validated p.F89L 1.000 309 0.3% 93 19.4% 18 5.5% possibly_damaging(0.653) tolerated(0.11) deleterious(0.501) NULL PHC3 80012 genome.wustl.edu 37 3 169863278 169863278 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024947.3 -1 validated p.A202V 1.000 48 0% 32 43.8% 9 55.5% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL PRKCI 5584 genome.wustl.edu 37 3 170016842 170016842 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002740.5 +1 reviewed p.L549F 1.000 372 0% 112 42.9% 27 44.4% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_S_TK_X,superfamily_Kinase_like,HMMPfam_Pkinase_C SKIL 6498 genome.wustl.edu 37 3 170102357 170102357 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005414.3 +1 validated p.P411 0.441 209 0% 126 47.6% 20 60% - - - NULL SLC2A2 6514 genome.wustl.edu 37 3 170716931 170716931 + Nonsense_Mutation SNP G G A rs34066960 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000340.1 -1 reviewed p.R365* 0.929 161 0.6% 44 29.5% 0 - - - - HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1,superfamily_MFS_gen_substrate_transporter TNIK 23043 genome.wustl.edu 37 3 170784430 170784430 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015028.2 -1 validated p.V1265A 1.000 123 0% 46 45.7% 0 - probably_damaging(0.975) deleterious(0.02) deleterious(0.800) HMMPfam_CNH,HMMSmart_SM00036 TNIK 23043 genome.wustl.edu 37 3 170802100 170802100 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015028.2 -1 validated p.E1005K 1.000 251 0% 104 42.3% 2 0% benign(0.291) deleterious(0.04) neutral(0.439) NULL TNIK 23043 genome.wustl.edu 37 3 170928951 170928951 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015028.2 -1 validated p.G87D 1.000 428 0% 109 42.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PLD1 5337 genome.wustl.edu 37 3 171451295 171451295 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002662.3 -1 validated p.Q182R 1.000 810 0% 320 41.6% 1 0% probably_damaging(0.979) tolerated(0.15) deleterious(0.663) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain FNDC3B 64778 genome.wustl.edu 37 3 172048404 172048404 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135095.1 +1 validated p.R485* 1.000 92 0% 81 45.7% 25 12% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ECT2 1894 genome.wustl.edu 37 3 172525603 172525603 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018098.4 +1 reviewed p.E732D 1.000 188 0% 70 44.3% 39 41% benign(0.031) tolerated(0.13) neutral(0.254) superfamily_PH domain-like NLGN1 22871 genome.wustl.edu 37 3 173998998 173998998 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014932.2 +1 reviewed p.P793S 1.000 230 0% 82 35.4% 0 - benign(0.001) tolerated(0.51) neutral(0.009) NULL NLGN1 22871 genome.wustl.edu 37 3 173999029 173999029 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014932.2 +1 reviewed p.G803V 1.000 219 0% 64 54.7% 0 - probably_damaging(0.97) tolerated(0.05) deleterious(0.758) NULL TBL1XR1 79718 genome.wustl.edu 37 3 176765277 176765277 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024665.4 -1 reviewed p.D255Y 1.000 164 0% 40 45% 19 47.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_WD40,superfamily_WD40_like TBL1XR1 79718 genome.wustl.edu 37 3 176768359 176768359 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024665.4 -1 reviewed p.E156G 1.000 138 0% 66 40.9% 34 32.3% possibly_damaging(0.439) tolerated(0.08) neutral(0.443) NULL ZMAT3 64393 genome.wustl.edu 37 3 178745482 178745482 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022470.3 -1 reviewed p.N170T 1.000 45 0% 40 32.5% 1 0% probably_damaging(0.996) tolerated(0.94) neutral(0.462) HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2 ZNF639 51193 genome.wustl.edu 37 3 179051102 179051102 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016331.1 +1 provisional p.P117H 0.979 86 0% 53 43.4% 23 56.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF639 51193 genome.wustl.edu 37 3 179052048 179052048 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016331.1 +1 provisional p.L432 1.000 156 0% 86 50% 22 54.5% - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 ACTL6A 86 genome.wustl.edu 37 3 179294049 179294049 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004301.3 +1 reviewed p.A174V 1.000 632 0% 270 38.5% 32 43.7% possibly_damaging(0.924) deleterious(0) deleterious(0.818) PatternScan_ASP_PROTEASE,HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain USP13 8975 genome.wustl.edu 37 3 179418824 179418824 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003940.2 +1 validated p.S128 1.000 227 0% 118 40.7% 2 50% - - - NULL PEX5L 51555 genome.wustl.edu 37 3 179526113 179526113 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016559.1 -1 provisional p.E489* 1.000 128 0% 94 30.9% 0 - - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TTC14 151613 genome.wustl.edu 37 3 180325454 180325454 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133462.3 +1 validated p.K397 0.998 187 0% 82 34.1% 2 100% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TTC14 151613 genome.wustl.edu 37 3 180327727 180327727 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133462.3 +1 validated p.Q570 1.000 101 0% 43 39.5% 7 0% - - - NULL CCDC39 339829 genome.wustl.edu 37 3 180337710 180337710 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181426.1 -1 validated p.A683T 1.000 494 0% 129 31.8% 0 - possibly_damaging(0.604) tolerated(0.14) neutral(0.459) superfamily_Prefoldin FXR1 8087 genome.wustl.edu 37 3 180685959 180685959 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005087.2 +1 reviewed p.R440I 1.000 86 0% 52 46.2% 177 49.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SOX2 6657 genome.wustl.edu 37 3 181430503 181430503 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003106.2 +1 reviewed p.L119F 1.000 15 0.000 9 0.667 2 100% possibly_damaging(0.768) deleterious(0) deleterious(0.730) NULL DCUN1D1 54165 genome.wustl.edu 37 3 182681739 182681739 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020640.2 -1 validated p.W107R 0.998 169 0% 77 45.5% 22 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MCCC1 56922 genome.wustl.edu 37 3 182751849 182751849 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000497959 -1 known p.F427S 1.000 351 0% 115 44.3% 27 59.2% benign(0) tolerated(0.32) neutral(0.024) NULL YEATS2 55689 genome.wustl.edu 37 3 183493786 183493786 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018023.4 +1 validated p.G818S 0.001 95 0% 42 52.4% 14 35.7% unknown(0) - - NULL PARL 55486 genome.wustl.edu 37 3 183551360 183551360 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000417784 -1 known p.R108C 0.998 126 0.8% 94 41.5% 70 37.1% - - - HMMPfam_Rhomboid PARL 55486 genome.wustl.edu 37 3 183562086 183562086 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018622.5 -1 reviewed p.F180L 1.000 186 0% 76 38.2% 45 53.3% benign(0.014) tolerated(0.13) neutral(0.253) NULL ABCC5 10057 genome.wustl.edu 37 3 183689394 183689394 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005688.2 -1 reviewed p.R573H 0.998 51 0% 48 62.5% 7 28.5% possibly_damaging(0.468) tolerated(0.07) deleterious(0.473) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC5 10057 genome.wustl.edu 37 3 183695363 183695363 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005688.2 -1 reviewed p.V449A 1.000 160 0% 56 37.5% 1 100% possibly_damaging(0.598) tolerated(0.15) neutral(0.448) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain AP2M1 1173 genome.wustl.edu 37 3 183898657 183898657 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004068.3 +1 reviewed p.Q150H 1.000 67 0% 63 31.7% 224 33% benign(0.001) tolerated(0.07) neutral(0.319) NULL ECE2 9718 genome.wustl.edu 37 3 183994324 183994324 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100120.1 +1 validated p.V32A 0.323 7 0.000 7 0.571 1 0% benign(0) tolerated(1) - NULL PSMD2 5708 genome.wustl.edu 37 3 184026568 184026568 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002808.3 +1 reviewed p.L873 0.993 98 0% 87 43.7% 316 50.9% - - - NULL EIF4G1 1981 genome.wustl.edu 37 3 184049787 184049787 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182917.3 +1 reviewed p.L1511 1.000 31 0% 33 45.5% 295 47.1% - - - HMMSmart_SM00515,superfamily_ARM repeat THPO 7066 genome.wustl.edu 37 3 184090566 184090566 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000460.2 -1 reviewed p.R266H 0.000 163 0% 150 50.7% 0 - possibly_damaging(0.782) tolerated(0.21) neutral(0.337) NULL CHRD 8646 genome.wustl.edu 37 3 184101195 184101195 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003741.2 +1 reviewed p.L437 1.000 16 0% 22 22.7% 4 0% - - - HMMPfam_CHRD,HMMSmart_SM00754 CHRD 8646 genome.wustl.edu 37 3 184104881 184104881 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003741.2 +1 reviewed p.R778Q 0.831 32 0% 26 15.4% 1 0% benign(0.115) tolerated(0.41) neutral(0.024) NULL VPS8 23355 genome.wustl.edu 37 3 184612649 184612649 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009921.2 +1 validated p.K647R 0.971 229 0% 139 56.8% 4 25% benign(0.103) tolerated(0.72) neutral(0.009) NULL VPS8 23355 genome.wustl.edu 37 3 184644419 184644419 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009921.2 +1 validated p.R871Q 1.000 133 0% 70 41.4% 7 28.5% probably_damaging(0.997) tolerated(0.16) deleterious(0.526) NULL EHHADH 1962 genome.wustl.edu 37 3 184935996 184935996 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001966.3 -1 reviewed p.L166 0.998 319 0% 177 48.6% 2 50% - - - HMMPfam_ECH,superfamily_SSF52096 MAP3K13 9175 genome.wustl.edu 37 3 185167783 185167783 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004721.3 +1 reviewed p.S369I 1.000 81 0% 51 47.1% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LIPH 200879 genome.wustl.edu 37 3 185251432 185251432 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000452897 -1 known p.S6L 0.996 236 0.4% 130 45.4% 0 - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases IGF2BP2 10644 genome.wustl.edu 37 3 185407235 185407235 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000457616 -1 known p.A140T 1.000 68 0% 50 38% 0 - - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) C3orf65 646600 genome.wustl.edu 37 3 185434431 185434431 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000296270 +1 known p.P88 0.083 74 0% 56 41.1% 0 - - - - NULL ETV5 2119 genome.wustl.edu 37 3 185766576 185766576 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004454.2 -1 validated p.N462S 1.000 32 0% 17 41.2% 39 53.8% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_SSF46785 DGKG 1608 genome.wustl.edu 37 3 185983065 185983065 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001346.2 -1 reviewed p.V414M 0.000 36 0% 31 35.5% 0 - benign(0) tolerated(0.25) neutral(0.037) NULL DGKG 1608 genome.wustl.edu 37 3 185993451 185993451 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001346.2 -1 reviewed p.G265 1.000 14 0% 13 30.8% 0 - - - - superfamily_Cysteine-rich domain CRYGS 1427 genome.wustl.edu 37 3 186257302 186257302 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017541.2 -1 reviewed p.R36C 0.997 76 0% 32 50% 3 33.3% probably_damaging(0.982) deleterious(0.03) deleterious(0.791) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like AHSG 197 genome.wustl.edu 37 3 186338501 186338501 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001622.2 +1 reviewed p.D296N 0.000 12 0% 15 26.7% 0 - benign(0.189) tolerated(0.59) neutral(0.022) NULL KNG1 3827 genome.wustl.edu 37 3 186443046 186443046 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102416.2 +1 reviewed p.R187 0.264 125 0% 63 42.9% 0 - - - - HMMPfam_Cystatin,HMMSmart_SM00043,PatternScan_CYSTATIN,superfamily_Cystatin/monellin KNG1 3827 genome.wustl.edu 37 3 186461521 186461521 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000893.3 +1 reviewed p.G411C 0.585 91 0% 49 46.9% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL EIF4A2 1974 genome.wustl.edu 37 3 186502819 186502819 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001967.3 +1 validated p.Q93* 1.000 184 0% 129 44.2% 109 8.2% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ST6GAL1 6480 genome.wustl.edu 37 3 186760714 186760714 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003032.2 +1 reviewed p.R75C 0.000 90 0% 44 45.5% 4 50% benign(0.001) tolerated(0.14) neutral(0.249) NULL ST6GAL1 6480 genome.wustl.edu 37 3 186760790 186760790 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003032.2 +1 reviewed p.S100N 1.000 93 0% 39 41% 4 50% benign(0.181) tolerated(0.06) neutral(0.339) NULL BCL6 604 genome.wustl.edu 37 3 187446846 187446846 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130845.1 -1 reviewed p.I449 0.966 63 0% 43 32.6% 25 28% - - - NULL BCL6 604 genome.wustl.edu 37 3 187447665 187447665 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130845.1 -1 reviewed p.E176D 0.999 25 0% 11 36.4% 19 42.1% benign(0) tolerated(1) - NULL LPP 4026 genome.wustl.edu 37 3 188242461 188242461 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005578.3 +1 reviewed p.P105 0.990 24 0% 16 62.5% 7 28.5% - - - NULL LPP 4026 genome.wustl.edu 37 3 188327155 188327155 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005578.3 +1 reviewed p.T212 0.000 45 0% 28 53.6% 10 50% - - - NULL TPRG1 285386 genome.wustl.edu 37 3 188956595 188956595 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198485.3 +1 validated p.D126N 1.000 136 0.7% 38 44.7% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL TPRG1 285386 genome.wustl.edu 37 3 188956653 188956653 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198485.3 +1 validated p.R145H 1.000 116 0% 37 32.4% 0 - possibly_damaging(0.924) tolerated(0.13) deleterious(0.625) NULL IL1RAP 3556 genome.wustl.edu 37 3 190374364 190374364 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000317757 +1 known p.L678V 1.000 49 0% 25 32% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MB21D2 151963 genome.wustl.edu 37 3 192516440 192516440 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178496.3 -1 validated p.R404H 1.000 26 0% 19 47.4% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP13A5 344905 genome.wustl.edu 37 3 192993074 192993074 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198505.2 -1 provisional p.N1138K 0.198 137 0% 74 40.5% 0 - probably_damaging(1) tolerated(0.3) deleterious(0.528) NULL ATP13A5 344905 genome.wustl.edu 37 3 193039527 193039527 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198505.2 -1 provisional p.H620Y 0.307 59 0% 31 25.8% 0 - possibly_damaging(0.446) deleterious(0.02) deleterious(0.529) superfamily_SSF81660,superfamily_SSF81665 ATP13A5 344905 genome.wustl.edu 37 3 193051622 193051622 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198505.2 -1 provisional p.D397N 1.000 145 0% 64 48.4% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_E1-E2_ATPase,superfamily_SSF81665 OPA1 4976 genome.wustl.edu 37 3 193374918 193374918 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130837.2 +1 reviewed p.P743L 0.999 236 0% 83 45.8% 17 82.3% benign(0.004) tolerated(0.2) neutral(0.049) NULL HES1 3280 genome.wustl.edu 37 3 193854767 193854767 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005524.2 +1 reviewed p.K74 1.000 21 0% 22 22.7% 96 17.7% - - - HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic LRRC15 131578 genome.wustl.edu 37 3 194080502 194080502 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135057.2 -1 validated p.P430H 1.000 45 0% 45 53.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00082,superfamily_L domain-like LRRC15 131578 genome.wustl.edu 37 3 194081245 194081245 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135057.2 -1 validated p.T182 0.836 61 0% 61 37.7% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like ATP13A3 79572 genome.wustl.edu 37 3 194152481 194152481 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024524.3 -1 validated p.T796A 0.006 127 0% 70 10% 22 9% benign(0) tolerated(0.41) neutral(0.015) superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ATP13A3 79572 genome.wustl.edu 37 3 194167699 194167699 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024524.3 -1 validated p.R485I 1.000 220 0% 84 25% 7 57.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Calcium ATPase transmembrane domain M ATP13A3 79572 genome.wustl.edu 37 3 194168666 194168666 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024524.3 -1 validated p.R408K 1.000 317 0% 168 47% 18 55.5% benign(0.042) tolerated(0.27) neutral(0.036) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M ACAP2 23527 genome.wustl.edu 37 3 195015528 195015528 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012287.5 -1 validated p.D562G 1.000 103 0% 54 37% 11 81.8% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL OSTalpha 200931 genome.wustl.edu 37 3 195955776 195955776 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152672.5 +1 validated p.I206 1.000 53 0% 47 46.8% 1 0% - - - NULL TM4SF19 116211 genome.wustl.edu 37 3 196050615 196050615 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000446879 -1 known p.W233C 0.009 11 0% 17 47.1% 2 0% unknown(0) - - NULL UBXN7 26043 genome.wustl.edu 37 3 196159229 196159229 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015562.1 -1 validated p.K14N 1.000 13 0% 19 57.9% 5 20% benign(0) tolerated(0.62) neutral(0.004) superfamily_UBA-like LRRC33 375387 genome.wustl.edu 37 3 196388144 196388144 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198565.1 +1 provisional p.S544P 1.000 71 0% 60 16.7% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_LRR_1,superfamily_SSF52058 PAK2 5062 genome.wustl.edu 37 3 196539612 196539612 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000426668 +1 known p.L18S 1.000 304 0% 113 36.3% 23 43.4% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SENP5 205564 genome.wustl.edu 37 3 196613454 196613454 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152699.4 +1 validated p.E468K 1.000 56 0% 33 36.4% 8 12.5% benign(0.282) tolerated(0.08) neutral(0.386) NULL MFI2 4241 genome.wustl.edu 37 3 196736603 196736603 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005929.4 -1 reviewed p.R471W 0.023 14 0% 12 58.3% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II MFI2 4241 genome.wustl.edu 37 3 196746647 196746647 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033316.3 -1 reviewed p.W246C 0.000 93 0% 76 40.8% 0 - benign(0.002) tolerated(0.19) neutral(0.050) HMMSmart_SM00094 DLG1 1739 genome.wustl.edu 37 3 197009616 197009616 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004087.2 -1 validated p.I84M 0.986 243 0% 111 18% 16 18.7% benign(0.11) tolerated(0.13) neutral(0.261) NULL ENSG00000214135 0 genome.wustl.edu 37 3 197350254 197350254 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000414207 -1 known NULL 1.000 398 0% 265 15.1% 0 - - - - - LMLN 89782 genome.wustl.edu 37 3 197765445 197765445 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136049.2 +1 reviewed p.C662 0.991 585 0% 273 37.7% 7 14.2% - - - NULL ZNF732 654254 genome.wustl.edu 37 4 265206 265206 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001137608.1 -1 provisional p.G480 0.628 190 0% 123 46.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF721 170960 genome.wustl.edu 37 4 435695 435695 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133474.2 -1 validated p.V854A 0.001 180 0% 66 43.9% 13 69.2% benign(0.171) tolerated(0.74) neutral(0.017) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PIGG 54872 genome.wustl.edu 37 4 493192 493192 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127178.1 +1 validated p.F23S 1.000 15 0% 15 26.7% 7 57.1% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL PIGG 54872 genome.wustl.edu 37 4 494373 494373 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127178.1 +1 validated p.T115A 1.000 112 0% 69 44.9% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Alkaline phosphatase-like MFSD7 84179 genome.wustl.edu 37 4 680438 680438 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032219.2 -1 provisional p.E59D 0.297 17 0% 10 50% 1 0% benign(0.221) tolerated(0.21) neutral(0.066) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter TMEM175 84286 genome.wustl.edu 37 4 944227 944227 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032326.2 +1 provisional p.Q71E 0.998 31 0% 36 22.2% 47 23.4% probably_damaging(0.973) tolerated(0.29) neutral(0.444) HMMPfam_DUF1211 DGKQ 1609 genome.wustl.edu 37 4 956656 956656 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001347.2 -1 reviewed p.D647N 1.000 16 0.000 9 0.444 14 57.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DAGK_cat,HMMSmart_SM00046 RNF212 285498 genome.wustl.edu 37 4 1073454 1073454 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001131034.1 -1 validated p.L163I 0.025 172 0% 98 40.8% 0 - possibly_damaging(0.727) tolerated(0.1) deleterious(0.551) NULL KIAA1530 57654 genome.wustl.edu 37 4 1343498 1343498 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020894.2 +1 validated p.P95 0.210 26 0% 23 17.4% 6 16.6% - - - NULL CRIPAK 285464 genome.wustl.edu 37 4 1388339 1388339 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175918.3 +1 validated p.P14S 0.121 37 0% 51 9.8% 25 8% probably_damaging(0.994) - - NULL FGFR3 2261 genome.wustl.edu 37 4 1806243 1806243 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000142.4 +1 reviewed p.R421Q 1.000 31 0% 33 42.4% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL WHSC1 7468 genome.wustl.edu 37 4 1936892 1936892 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042424.2 +1 reviewed p.R526I 1.000 171 0.6% 82 51.2% 41 48.7% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL WHSC1 7468 genome.wustl.edu 37 4 1978324 1978324 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042424.2 +1 reviewed p.G1248 0.688 35 0% 32 37.5% 82 53.6% - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD WHSC1 7468 genome.wustl.edu 37 4 1980595 1980595 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042424.2 +1 reviewed p.R1353W 0.001 5 0.000 10 0.700 25 60% unknown(0) deleterious(0) - NULL HAUS3 79441 genome.wustl.edu 37 4 2242279 2242279 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024511.5 -1 provisional p.H132R 0.763 330 0% 206 39.3% 6 16.6% possibly_damaging(0.816) tolerated(0.42) neutral(0.323) NULL NOP14 8602 genome.wustl.edu 37 4 2956170 2956170 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003703.1 -1 validated p.A198V 0.593 179 0% 105 36.2% 30 30% benign(0.187) tolerated(0.75) neutral(0.019) HMMPfam_Nop14 NOP14 8602 genome.wustl.edu 37 4 2959397 2959397 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003703.1 -1 validated p.G89E 1.000 592 0% 393 40.2% 18 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nop14 NOP14 8602 genome.wustl.edu 37 4 2964983 2964983 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003703.1 -1 validated p.G22W 0.000 21 0% 23 60.9% 4 50% unknown(0) deleterious(0.03) - HMMPfam_Nop14 HTT 3064 genome.wustl.edu 37 4 3156114 3156114 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002111.6 +1 reviewed p.L1198S 0.974 101 0% 48 47.9% 18 94.4% possibly_damaging(0.487) tolerated(0.62) neutral(0.166) NULL RGS12 6002 genome.wustl.edu 37 4 3422408 3422408 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198229.2 +1 reviewed p.S934L 0.998 23 0% 21 42.9% 13 46.1% probably_damaging(0.997) tolerated(0.19) deleterious(0.516) NULL LRPAP1 4043 genome.wustl.edu 37 4 3517850 3517850 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002337.2 -1 validated p.A276V 0.891 31 0% 22 50% 126 41.2% possibly_damaging(0.548) deleterious(0) deleterious(0.631) HMMPfam_Alpha-2-MRAP_C LRPAP1 4043 genome.wustl.edu 37 4 3526646 3526646 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002337.2 -1 validated p.R113C 0.849 87 0% 58 48.3% 105 45.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Alpha-2-MRAP_N,superfamily_MG_RAP_rcpt_1 ZBTB49 166793 genome.wustl.edu 37 4 4304162 4304162 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145291.3 +1 validated p.G200D 0.153 38 0% 33 12.1% 7 0% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL ZBTB49 166793 genome.wustl.edu 37 4 4304229 4304229 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145291.3 +1 validated p.K222N 1.000 29 0% 16 43.8% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZBTB49 166793 genome.wustl.edu 37 4 4322891 4322891 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145291.3 +1 validated p.L716 0.070 30 0% 22 40.9% 3 66.6% - - - NULL EVC2 132884 genome.wustl.edu 37 4 5576440 5576440 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_147127.4 -1 reviewed p.A1111G 0.000 163 0% 117 48.7% 1 0% benign(0.056) deleterious(0.04) neutral(0.352) NULL EVC2 132884 genome.wustl.edu 37 4 5586359 5586359 + Silent SNP C C T rs182310332 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_147127.4 -1 reviewed p.S1016 0.007 12 0% 15 40% 2 0% - - - NULL EVC2 132884 genome.wustl.edu 37 4 5620244 5620244 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_147127.4 -1 reviewed p.F889 0.998 9 0.000 24 0.333 0 - - - - NULL EVC2 132884 genome.wustl.edu 37 4 5624571 5624571 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_147127.4 -1 reviewed p.A732T 0.990 14 0.000 7 0.571 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL EVC 2121 genome.wustl.edu 37 4 5733376 5733376 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153717.2 +1 reviewed p.A203 0.774 12 0% 13 69.2% 5 80% - - - NULL EVC 2121 genome.wustl.edu 37 4 5800319 5800319 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153717.2 +1 reviewed p.R702C 0.252 6 0.000 7 0.571 6 50% unknown(0) deleterious(0.01) - NULL CRMP1 1400 genome.wustl.edu 37 4 5837659 5837659 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014809.1 -1 reviewed p.A536T 1.000 69 0% 41 31.7% 1 0% benign(0.113) deleterious(0) neutral(0.454) superfamily_Metalo_hydrolase CRMP1 1400 genome.wustl.edu 37 4 5868445 5868445 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014809.1 -1 reviewed p.N140 1.000 174 0% 61 44.3% 2 0% - - - superfamily_Metalo_hydrolase JAKMIP1 152789 genome.wustl.edu 37 4 6083430 6083430 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099433.1 -1 validated p.N336S 1.000 231 0% 119 37% 1 100% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL JAKMIP1 152789 genome.wustl.edu 37 4 6086578 6086578 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099433.1 -1 validated p.E317* 1.000 169 0% 134 39.6% 0 - - - - NULL JAKMIP1 152789 genome.wustl.edu 37 4 6086661 6086661 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099433.1 -1 validated p.R289Q 1.000 126 0% 81 35.8% 2 0% possibly_damaging(0.941) deleterious(0.02) deleterious(0.770) NULL JAKMIP1 152789 genome.wustl.edu 37 4 6114490 6114490 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099433.1 -1 validated p.L30 0.972 36 0% 35 45.7% 4 25% - - - NULL PPP2R2C 5522 genome.wustl.edu 37 4 6349718 6349718 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020416.3 -1 reviewed p.P215 0.667 81 0% 72 43.1% 5 40% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_PP2A_B_subs_rcg MAN2B2 23324 genome.wustl.edu 37 4 6606892 6606892 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015274.1 +1 validated p.E550D 0.000 33 0% 19 42.1% 19 52.6% benign(0.003) tolerated(0.59) neutral(0.004) superfamily_Galactose mutarotase-like,HMMPfam_Glyco_hydro_38C MRFAP1 93621 genome.wustl.edu 37 4 6642770 6642770 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033296.1 +1 provisional p.D61N 0.993 32 0% 19 26.3% 365 21.6% benign(0.227) deleterious(0) neutral(0.467) NULL KIAA0232 9778 genome.wustl.edu 37 4 6865453 6865453 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100590.1 +1 validated p.E1115G 1.000 183 0% 73 43.8% 11 63.6% possibly_damaging(0.78) deleterious(0) deleterious(0.736) NULL CCDC96 257236 genome.wustl.edu 37 4 7043295 7043295 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153376.2 -1 validated p.N457 0.013 197 0% 147 40.1% 6 33.3% - - - NULL PSAPL1 768239 genome.wustl.edu 37 4 7436243 7436243 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001085382.1 -1 validated p.L122F 0.117 9 0.000 6 0.667 0 - possibly_damaging(0.76) deleterious(0.01) deleterious(0.687) HMMPfam_SapB_2,HMMSmart_SapB,superfamily_Saposin_like SORCS2 57537 genome.wustl.edu 37 4 7668907 7668907 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000507866 +1 known p.P343S 0.998 151 0% 112 37.5% 0 - - - - HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase AFAP1 60312 genome.wustl.edu 37 4 7873679 7873679 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134647.1 -1 reviewed p.G43C 1.000 426 0% 221 13.1% 1 100% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) NULL MIR95 407052 genome.wustl.edu 37 4 8007083 8007083 + RNA SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000385072 -1 known NULL 1.000 47 2.1% 33 36.4% 0 - - - - - SH3TC1 54436 genome.wustl.edu 37 4 8219976 8219976 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000382516 +1 known p.R11I 0.001 42 0% 33 33.3% 0 - benign(0.359) deleterious(0.05) neutral(0.459) NULL HTRA3 94031 genome.wustl.edu 37 4 8288441 8288441 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053044.2 +1 provisional p.D213 0.060 18 0% 15 46.7% 24 0% - - - HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases ACOX3 8310 genome.wustl.edu 37 4 8375309 8375309 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003501.2 -1 validated p.A625 1.000 24 0% 15 46.7% 6 66.6% - - - HMMPfam_ACOX,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like SLC2A9 56606 genome.wustl.edu 37 4 9909890 9909890 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020041.2 -1 reviewed p.G361E 0.836 98 0% 58 13.8% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter WDR1 9948 genome.wustl.edu 37 4 10105549 10105549 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017491.3 -1 reviewed p.A67V 0.998 27 0% 22 45.5% 213 47.8% possibly_damaging(0.498) deleterious(0.01) deleterious(0.572) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR1 9948 genome.wustl.edu 37 4 10117777 10117777 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017491.3 -1 reviewed p.L33P 1.000 32 0% 27 51.9% 200 46.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like CLNK 116449 genome.wustl.edu 37 4 10515153 10515153 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052964.2 -1 validated p.E281K 0.000 153 0% 56 37.5% 0 - benign(0.343) tolerated(0.14) neutral(0.357) superfamily_SH2 domain BOD1L 259282 genome.wustl.edu 37 4 13601793 13601793 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148894.2 -1 validated p.G2244D 0.000 52 0% 53 41.5% 13 53.8% benign(0.17) deleterious(0.02) neutral(0.399) superfamily_SSF81995 BOD1L 259282 genome.wustl.edu 37 4 13604599 13604599 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148894.2 -1 validated p.V1309L 0.000 199 0% 94 47.9% 5 40% benign(0.243) deleterious(0.01) neutral(0.430) superfamily_SSF81995 BOD1L 259282 genome.wustl.edu 37 4 13612569 13612569 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148894.2 -1 validated p.R494* 1.000 337 0% 123 43.9% 3 33.3% - - - superfamily_SSF81995 BOD1L 259282 genome.wustl.edu 37 4 13612676 13612676 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148894.2 -1 validated p.S458F 0.000 527 0% 162 43.2% 0 - possibly_damaging(0.929) deleterious(0.02) deleterious(0.759) superfamily_SSF81995 C1QTNF7 114905 genome.wustl.edu 37 4 15437388 15437388 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135170.1 +1 validated p.V14 0.655 217 0% 101 42.6% 0 - - - - NULL CC2D2A 57545 genome.wustl.edu 37 4 15516445 15516445 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080522.2 +1 reviewed p.R278Q 0.000 199 0% 118 24.6% 5 0% benign(0.027) tolerated(0.38) neutral(0.019) NULL CC2D2A 57545 genome.wustl.edu 37 4 15581689 15581689 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080522.2 +1 reviewed p.V1290 0.946 215 0% 101 42.6% 4 50% - - - NULL CC2D2A 57545 genome.wustl.edu 37 4 15591204 15591204 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080522.2 +1 reviewed p.R1406C 1.000 368 0.3% 161 14.9% 4 0% possibly_damaging(0.847) tolerated(0.05) deleterious(0.670) NULL FBXL5 26234 genome.wustl.edu 37 4 15626993 15626993 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000513163 -1 known p.I498T 0.064 328 0.3% 155 38.1% 44 0% - - - superfamily_RNI-like FBXL5 26234 genome.wustl.edu 37 4 15627499 15627499 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012161.2 -1 reviewed p.G409V 1.000 131 0% 80 51.2% 17 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNI-like FAM200B 285550 genome.wustl.edu 37 4 15689066 15689066 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145191.1 +1 validated p.R156C 0.997 168 0% 53 39.6% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL FAM200B 285550 genome.wustl.edu 37 4 15689841 15689841 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145191.1 +1 validated p.S414Y 1.000 92 0% 42 40.5% 3 100% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL BST1 683 genome.wustl.edu 37 4 15733373 15733373 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004334.2 +1 validated p.A288T 0.000 77 0% 63 36.5% 0 - benign(0) tolerated(0.67) neutral(0.003) NULL PROM1 8842 genome.wustl.edu 37 4 16008174 16008174 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006017.2 -1 reviewed p.V481I 1.000 24 0% 16 50% 27 96.2% benign(0.037) tolerated(0.84) neutral(0.003) HMMPfam_Prominin TAPT1 202018 genome.wustl.edu 37 4 16204185 16204185 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153365.2 -1 reviewed p.F117V 1.000 135 0% 82 43.9% 17 76.4% possibly_damaging(0.68) tolerated(0.07) deleterious(0.561) NULL LDB2 9079 genome.wustl.edu 37 4 16760786 16760786 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001290.3 -1 validated p.R77Q 1.000 160 0% 56 37.5% 4 0% possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) HMMPfam_LIM_bind FAM184B 27146 genome.wustl.edu 37 4 17710568 17710568 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015688.1 -1 validated p.R281C 1.000 48 0% 46 32.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM184B 27146 genome.wustl.edu 37 4 17710912 17710912 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015688.1 -1 validated p.T166M 0.000 7 0.000 7 0.571 0 - possibly_damaging(0.861) deleterious(0.02) deleterious(0.716) NULL NCAPG 64151 genome.wustl.edu 37 4 17836072 17836072 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022346.3 +1 validated p.E679* 0.125 288 0% 77 45.5% 8 0% - - - superfamily_ARM-type_fold LCORL 254251 genome.wustl.edu 37 4 17910716 17910716 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153686.7 -1 reviewed e5+1 1.000 343 0% 168 44.6% 0 - - - - - SLIT2 9353 genome.wustl.edu 37 4 20490458 20490458 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004787.1 +1 provisional p.N210H 1.000 79 0% 59 50.8% 2 50% benign(0.002) tolerated(0.63) neutral(0.004) HMMSmart_SM00082,superfamily_L domain-like GPR125 166647 genome.wustl.edu 37 4 22415322 22415322 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145290.2 -1 validated p.R642H 1.000 172 0% 62 59.7% 14 35.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GPR125 166647 genome.wustl.edu 37 4 22449125 22449125 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145290.2 -1 validated p.S161 0.991 208 0% 52 44.2% 12 33.3% - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like GBA3 57733 genome.wustl.edu 37 4 22749494 22749494 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020973.3 +1 validated p.E288* 0.365 168 0% 78 51.3% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases DHX15 1665 genome.wustl.edu 37 4 24577866 24577866 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001358.2 -1 reviewed p.Q169H 1.000 166 0% 93 47.3% 69 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMSmart_DEXDc,superfamily_SSF52540 SEPSECS 51091 genome.wustl.edu 37 4 25158576 25158576 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016955.3 -1 validated p.R18Q 1.000 120 0% 94 50% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SLA_LP_auto_ag,superfamily_PLP-dependent transferases PI4K2B 55300 genome.wustl.edu 37 4 25270809 25270809 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018323.3 +1 validated p.S419Y 1.000 542 0% 246 13% 16 6.2% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_PI3_PI4_kinase ZCCHC4 29063 genome.wustl.edu 37 4 25334976 25334976 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000505412 +1 known p.E32* 1.000 175 0% 90 41.1% 3 33.3% benign(0.368) tolerated(0.48) neutral(0.128) NULL ZCCHC4 29063 genome.wustl.edu 37 4 25335610 25335610 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024936.2 +1 validated p.R229Q 1.000 306 0.3% 141 33.3% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SEL1L3 23231 genome.wustl.edu 37 4 25835175 25835175 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015187.3 -1 validated p.W293R 1.000 223 0% 88 18.2% 14 7.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARAP2 116984 genome.wustl.edu 37 4 36069768 36069768 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015230.2 -1 reviewed p.R1626* 0.997 163 0% 62 40.3% 7 57.1% - - - NULL ARAP2 116984 genome.wustl.edu 37 4 36122833 36122833 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015230.2 -1 reviewed p.D1288Y 1.000 166 0.6% 20 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARAP2 116984 genome.wustl.edu 37 4 36179496 36179496 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015230.2 -1 reviewed p.F604V 1.000 369 0% 110 50% 3 66.6% possibly_damaging(0.79) deleterious(0.01) deleterious(0.702) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARAP2 116984 genome.wustl.edu 37 4 36212358 36212358 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015230.2 -1 reviewed p.D381N 1.000 380 0% 99 39.4% 1 100% benign(0.323) deleterious(0.01) deleterious(0.507) NULL DTHD1 401124 genome.wustl.edu 37 4 36292233 36292233 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136536.3 +1 validated p.Y86H 1.000 278 0% 120 10.8% 0 - possibly_damaging(0.873) tolerated(0.33) neutral(0.363) NULL KIAA1239 57495 genome.wustl.edu 37 4 37447155 37447155 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144990.1 +1 validated p.D1182G 1.000 47 0% 28 46.4% 0 - benign(0.253) deleterious(0.04) neutral(0.375) superfamily_WD40_like PGM2 55276 genome.wustl.edu 37 4 37848718 37848718 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018290.3 +1 validated p.G392C 1.000 197 0% 122 45.9% 19 36.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_A-D-PHexomutase_a/b/a-I/II/III TBC1D1 23216 genome.wustl.edu 37 4 38020009 38020009 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015173.2 +1 validated p.D306G 1.000 442 0% 207 25.1% 20 35% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like KLF3 51274 genome.wustl.edu 37 4 38698844 38698844 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016531.5 +1 validated p.D333G 1.000 122 0% 73 28.8% 73 47.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KLHL5 51088 genome.wustl.edu 37 4 39064158 39064158 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015990.4 +1 validated p.L8 0.751 229 0% 119 40.3% 0 - - - - NULL KLHL5 51088 genome.wustl.edu 37 4 39088217 39088217 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015990.4 +1 validated p.D374G 1.000 218 0% 67 22.4% 7 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_BACK WDR19 57728 genome.wustl.edu 37 4 39217801 39217801 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025132.3 +1 reviewed p.R407Q 1.000 464 0.2% 160 43.8% 12 41.6% probably_damaging(0.961) tolerated(0.13) deleterious(0.657) NULL WDR19 57728 genome.wustl.edu 37 4 39229839 39229839 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025132.3 +1 reviewed p.A547T 0.010 200 0% 75 46.7% 7 42.8% benign(0) tolerated(0.41) neutral(0.015) superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase WDR19 57728 genome.wustl.edu 37 4 39276564 39276564 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025132.3 +1 reviewed p.I1234 0.979 86 0% 66 34.8% 28 64.2% - - - NULL RFC1 5981 genome.wustl.edu 37 4 39304177 39304177 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002913.3 -1 reviewed p.K793 1.000 385 0% 127 35.4% 21 61.9% - - - superfamily_SSF52540 RFC1 5981 genome.wustl.edu 37 4 39328215 39328215 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002913.3 -1 reviewed p.A204T 0.999 323 0% 139 46% 12 50% probably_damaging(1) tolerated(0.43) deleterious(0.513) NULL KLB 152831 genome.wustl.edu 37 4 39435845 39435845 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175737.3 +1 validated p.W281R 1.000 68 0% 37 43.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat PDS5A 23244 genome.wustl.edu 37 4 39864550 39864550 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100399.1 -1 reviewed p.Q970H 1.000 202 0% 85 40% 71 53.5% benign(0.33) tolerated(0.36) neutral(0.123) superfamily_ARM repeat PDS5A 23244 genome.wustl.edu 37 4 39921976 39921976 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100399.1 -1 reviewed p.K233T 1.000 282 0% 89 44.9% 30 30% benign(0.205) tolerated(0.51) neutral(0.029) superfamily_ARM repeat N4BP2 55728 genome.wustl.edu 37 4 40122539 40122539 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018177.3 +1 reviewed p.Q936H 0.996 85 0% 31 35.5% 5 60% possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL CHRNA9 55584 genome.wustl.edu 37 4 40351124 40351124 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017581.2 +1 reviewed p.F197L 1.000 92 0% 51 39.2% 0 - benign(0.146) tolerated(0.07) neutral(0.332) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like NSUN7 79730 genome.wustl.edu 37 4 40752997 40752997 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024677.4 +1 validated p.S96I 1.000 78 0% 55 43.6% 8 50% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL APBB2 323 genome.wustl.edu 37 4 40892410 40892410 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000513611 -1 known p.R469C 0.350 10 0.000 7 0.571 5 0% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like APBB2 323 genome.wustl.edu 37 4 41015600 41015600 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173075.4 -1 reviewed p.D279N 1.000 42 0% 34 41.2% 8 25% benign(0.001) tolerated(0.18) neutral(0.056) NULL LIMCH1 22998 genome.wustl.edu 37 4 41684454 41684454 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508466 +1 known p.V724A 0.000 139 0% 54 37% 14 57.1% - - - NULL BEND4 389206 genome.wustl.edu 37 4 42122095 42122095 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207406.3 -1 validated p.P455S 1.000 117 0% 60 13.3% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_BEN SHISA3 152573 genome.wustl.edu 37 4 42403167 42403167 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080505.1 +1 provisional p.R139H 1.000 117 0% 123 38.2% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ATP8A1 10396 genome.wustl.edu 37 4 42524203 42524203 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006095.2 -1 reviewed p.E641K 0.998 58 0% 23 34.8% 2 50% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP8A1 10396 genome.wustl.edu 37 4 42618091 42618091 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006095.2 -1 reviewed p.R123Q 1.000 701 0% 297 41.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase GUF1 60558 genome.wustl.edu 37 4 44691961 44691961 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021927.2 +1 validated p.K435T 1.000 317 0% 86 45.3% 5 60% benign(0.02) deleterious(0.02) neutral(0.384) NULL GABRG1 2565 genome.wustl.edu 37 4 46086013 46086013 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173536.3 -1 reviewed p.P104L 1.000 282 0% 34 44.1% 0 - benign(0.253) deleterious(0.02) neutral(0.409) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA2 2555 genome.wustl.edu 37 4 46388112 46388112 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000807.2 -1 reviewed p.R56W 1.000 261 0% 112 10.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRA4 2557 genome.wustl.edu 37 4 46967008 46967008 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000809.2 -1 reviewed p.K371N 0.774 215 0% 35 28.6% 0 - benign(0.345) tolerated(0.05) neutral(0.454) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA4 2557 genome.wustl.edu 37 4 46979445 46979445 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000809.2 -1 reviewed p.T159I 1.000 391 0% 61 47.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD ATP10D 57205 genome.wustl.edu 37 4 47537563 47537563 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020453.3 +1 validated p.E272* 1.000 313 0% 103 44.7% 1 0% - - - HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A CORIN 10699 genome.wustl.edu 37 4 47605608 47605608 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006587.2 -1 reviewed p.R873H 0.258 85 1.2% 51 43.1% 0 - possibly_damaging(0.89) tolerated(0.56) neutral(0.356) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CNGA1 1259 genome.wustl.edu 37 4 47938750 47938750 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142564.1 -1 reviewed p.E656D 1.000 59 0% 27 37% 0 - possibly_damaging(0.701) tolerated(0.38) neutral(0.270) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like NIPAL1 152519 genome.wustl.edu 37 4 48036909 48036909 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207330.1 +1 provisional p.S158Y 1.000 115 0% 57 57.9% 5 60% unknown(0) - - HMMPfam_DUF803,superfamily_SSF103481 NIPAL1 152519 genome.wustl.edu 37 4 48037803 48037803 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207330.1 +1 provisional p.L283I 0.723 268 0% 139 26.6% 4 0% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_DUF803 SLAIN2 57606 genome.wustl.edu 37 4 48424089 48424089 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020846.1 +1 validated p.Y581H 1.000 151 0% 48 41.7% 42 59.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRYL 285527 genome.wustl.edu 37 4 48542519 48542519 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015030.1 -1 validated p.S2049N 0.999 238 0% 67 50.7% 14 57.1% benign(0) tolerated(0.4) neutral(0.016) superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48542802 48542802 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015030.1 -1 validated p.R1955W 1.000 162 0% 56 33.9% 15 26.6% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48559593 48559593 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015030.1 -1 validated p.E1334D 0.849 141 0% 76 43.4% 11 45.4% benign(0) tolerated(0.48) neutral(0.011) NULL FRYL 285527 genome.wustl.edu 37 4 48605367 48605367 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015030.1 -1 validated p.N291K 1.000 262 0% 70 35.7% 1 100% possibly_damaging(0.559) deleterious(0.01) deleterious(0.596) superfamily_ARM repeat OCIAD1 54940 genome.wustl.edu 37 4 48852084 48852084 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079839.2 +1 validated p.R121Q 0.107 185 0% 89 34.8% 55 40% possibly_damaging(0.914) tolerated(0.08) deleterious(0.666) NULL SPATA18 132671 genome.wustl.edu 37 4 52945961 52945961 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145263.2 +1 provisional p.V411I 1.000 179 0.6% 104 47.1% 2 0% possibly_damaging(0.523) tolerated(0.38) neutral(0.194) NULL GSX2 170825 genome.wustl.edu 37 4 54968021 54968021 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133267.2 +1 validated p.R283C 0.997 17 0% 18 44.4% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL PDGFRA 5156 genome.wustl.edu 37 4 55143645 55143645 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006206.4 +1 reviewed p.V626A 1.000 203 0% 127 33.9% 16 56.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP KIT 3815 genome.wustl.edu 37 4 55602953 55602953 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000222.2 +1 reviewed p.R888Q 0.999 94 1.1% 59 39% 1 0% probably_damaging(0.972) tolerated(0.44) neutral(0.426) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KDR 3791 genome.wustl.edu 37 4 55946181 55946181 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002253.2 -1 reviewed p.G1333E 0.001 153 0% 102 45.1% 7 0% benign(0) deleterious(0.02) neutral(0.383) NULL KDR 3791 genome.wustl.edu 37 4 55946287 55946287 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002253.2 -1 reviewed p.G1298S 1.000 124 0% 85 36.5% 8 0% benign(0) tolerated(0.7) neutral(0.002) NULL KDR 3791 genome.wustl.edu 37 4 55964348 55964348 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002253.2 -1 reviewed p.Y822C 0.999 76 0% 27 37% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like EXOC1 55763 genome.wustl.edu 37 4 56726704 56726704 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024924.1 +1 reviewed p.I84 0.999 125 0% 64 40.6% 4 0% - - - NULL CEP135 9662 genome.wustl.edu 37 4 56885719 56885719 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025009.3 +1 validated p.K1071N 0.995 197 0% 57 42.1% 7 42.8% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL KIAA1211 57482 genome.wustl.edu 37 4 57180353 57180353 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020722.1 +1 validated p.R229* 1.000 29 0% 26 50% 1 0% - - - NULL AASDH 132949 genome.wustl.edu 37 4 57219696 57219696 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181806.2 -1 validated p.L484I 1.000 197 0% 56 46.4% 2 50% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) superfamily_Acetyl-CoA synthetase-like PPAT 5471 genome.wustl.edu 37 4 57261570 57261570 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002703.3 -1 reviewed p.G501D 1.000 650 0.2% 266 39.5% 13 46.1% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_PRTase-like REST 5978 genome.wustl.edu 37 4 57796740 57796740 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005612.3 +1 reviewed p.N572 0.000 34 0% 20 45% 3 66.6% - - - NULL REST 5978 genome.wustl.edu 37 4 57797767 57797767 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005612.3 +1 reviewed p.E915K 0.004 109 0% 45 44.4% 13 53.8% possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) NULL NOA1 84273 genome.wustl.edu 37 4 57832797 57832797 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032313.2 -1 provisional p.T585A 0.000 73 0% 35 20% 46 36.9% benign(0.005) tolerated(0.57) neutral(0.006) NULL POLR2B 5431 genome.wustl.edu 37 4 57871577 57871577 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000938.1 +1 reviewed p.F356V 1.000 577 0% 230 46.5% 20 45% benign(0.148) tolerated(0.3) neutral(0.042) HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR2B 5431 genome.wustl.edu 37 4 57881683 57881683 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000938.1 +1 reviewed p.D606N 1.000 281 0% 90 27.8% 35 51.4% possibly_damaging(0.483) deleterious(0.02) deleterious(0.543) HMMPfam_RNA_pol_Rpb2_4,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase LPHN3 23284 genome.wustl.edu 37 4 62542600 62542600 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015236.4 +1 reviewed p.P109L 1.000 283 0.4% 80 46.3% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gal_Lectin LPHN3 23284 genome.wustl.edu 37 4 62599030 62599030 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015236.4 +1 reviewed p.G318E 1.000 208 0.5% 74 37.8% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OLF,HMMSmart_SM00284 LPHN3 23284 genome.wustl.edu 37 4 62758467 62758467 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015236.4 +1 reviewed p.P457L 0.991 108 0% 55 41.8% 4 50% benign(0.008) deleterious(0.01) neutral(0.406) NULL LPHN3 23284 genome.wustl.edu 37 4 62849182 62849182 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015236.4 +1 reviewed p.L965I 1.000 397 0% 165 13.9% 7 14.2% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like CENPC1 1060 genome.wustl.edu 37 4 68359628 68359628 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001812.2 -1 reviewed p.R755Q 0.992 313 0% 127 46.5% 9 44.4% probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL UBA6 55236 genome.wustl.edu 37 4 68490841 68490841 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018227.5 -1 validated p.F861L 0.988 225 0% 103 44.7% 27 48.1% possibly_damaging(0.792) deleterious(0.05) deleterious(0.642) HMMPfam_UBACT,superfamily_Activating enzymes of the ubiquitin-like proteins UBA6 55236 genome.wustl.edu 37 4 68530940 68530940 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018227.5 -1 validated p.A288 1.000 191 0% 65 46.2% 6 66.6% - - - superfamily_Activating enzymes of the ubiquitin-like proteins GNRHR 2798 genome.wustl.edu 37 4 68606319 68606319 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000406.2 -1 reviewed p.W289* 1.000 219 0% 61 16.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GNRHR 2798 genome.wustl.edu 37 4 68619854 68619854 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000406.2 -1 reviewed p.K67R 1.000 104 0% 34 47.1% 0 - benign(0.02) tolerated(0.58) neutral(0.006) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TMPRSS11A 339967 genome.wustl.edu 37 4 68810272 68810272 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182606.3 -1 validated p.Q73* 0.014 702 0% 210 42.4% 0 - - - - HMMPfam_SEA,superfamily_SEA domain TMPRSS11F 389208 genome.wustl.edu 37 4 68930607 68930607 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207407.2 -1 validated p.A271T 0.020 223 0.4% 94 45.7% 0 - benign(0.141) tolerated(0.41) neutral(0.027) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys TMPRSS11F 389208 genome.wustl.edu 37 4 68934367 68934367 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207407.2 -1 validated p.W242R 0.981 17 0% 22 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys TMPRSS11B 132724 genome.wustl.edu 37 4 69095041 69095041 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182502.3 -1 validated p.A294S 0.998 322 0% 126 39.7% 0 - probably_damaging(0.996) tolerated(0.26) deleterious(0.496) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TMPRSS11B 132724 genome.wustl.edu 37 4 69097088 69097088 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182502.3 -1 validated p.R173S 0.023 152 0% 66 15.2% 0 - probably_damaging(0.993) tolerated(0.86) neutral(0.451) superfamily_Trypsin-like serine proteases UGT2B15 7366 genome.wustl.edu 37 4 69535817 69535817 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001076.2 -1 validated p.R174* 0.893 201 0.5% 85 52.9% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B7 7364 genome.wustl.edu 37 4 69962817 69962817 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001074.2 +1 validated p.Y193 0.989 409 0% 153 24.2% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A1 10941 genome.wustl.edu 37 4 70460369 70460369 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006798.2 -1 validated p.G377E 1.000 166 0% 62 33.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A2 574537 genome.wustl.edu 37 4 70504953 70504953 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105677.1 -1 inferred p.D128N 1.000 200 0% 78 35.9% 0 - benign(0.042) tolerated(0.1) neutral(0.289) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SULT1B1 27284 genome.wustl.edu 37 4 70592861 70592861 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014465.3 -1 reviewed p.A279V 0.131 377 0% 85 47.1% 0 - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 SULT1E1 6783 genome.wustl.edu 37 4 70710038 70710038 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005420.2 -1 reviewed p.K205Q 0.073 285 0% 146 40.4% 0 - benign(0.107) deleterious(0.01) neutral(0.414) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases FDCSP 260436 genome.wustl.edu 37 4 71099825 71099825 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152997.2 +1 validated p.R60I 0.000 466 0.2% 79 45.6% 7 100% possibly_damaging(0.681) - - NULL CABS1 85438 genome.wustl.edu 37 4 71201276 71201276 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033122.3 +1 validated p.A174T 0.001 69 0% 29 51.7% 0 - benign(0.355) tolerated(0.19) neutral(0.162) NULL AMBN 258 genome.wustl.edu 37 4 71459089 71459089 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016519.4 +1 reviewed p.L21 0.988 357 0% 136 41.2% 0 - - - - HMMPfam_Amelin,HMMSmart_SM00817 AMBN 258 genome.wustl.edu 37 4 71472154 71472154 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016519.4 +1 reviewed p.A351T 0.536 47 0% 26 42.3% 0 - benign(0.003) tolerated(0.18) neutral(0.056) HMMPfam_Amelin,HMMSmart_SM00817 ENAM 10117 genome.wustl.edu 37 4 71507895 71507895 + Missense_Mutation SNP C C T rs188769287 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031889.2 +1 reviewed p.T251M 0.760 174 0% 57 14% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ENAM 10117 genome.wustl.edu 37 4 71509321 71509321 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031889.2 +1 reviewed p.E726D 0.944 135 0% 58 41.4% 0 - benign(0.294) tolerated(0.18) neutral(0.147) NULL UTP3 57050 genome.wustl.edu 37 4 71555772 71555772 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020368.2 +1 validated p.R460C 0.692 278 0% 114 44.7% 38 39.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sas10_Utp3_C RUFY3 22902 genome.wustl.edu 37 4 71630223 71630223 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037442.2 +1 validated p.R168C 1.000 235 0% 103 36.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RUN,HMMSmart_SM00593 RUFY3 22902 genome.wustl.edu 37 4 71630243 71630243 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037442.2 +1 validated p.K174N 1.000 241 0% 98 48% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RUN,HMMSmart_SM00593 GRSF1 2926 genome.wustl.edu 37 4 71693715 71693715 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002092.3 -1 reviewed p.R330Q 1.000 388 0% 201 47.8% 118 49.1% possibly_damaging(0.592) tolerated(0.12) neutral(0.465) superfamily_RNA-binding domain RBD SLC4A4 8671 genome.wustl.edu 37 4 72120991 72120991 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134742.1 +1 reviewed p.R43I 1.000 216 0% 63 31.7% 1 100% possibly_damaging(0.921) deleterious(0) deleterious(0.816) NULL GC 2638 genome.wustl.edu 37 4 72629651 72629651 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000583.2 -1 reviewed p.F159S 0.999 130 0% 35 37.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ADAMTS3 9508 genome.wustl.edu 37 4 73205332 73205332 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014243.1 -1 reviewed p.R247H 0.643 134 0.7% 52 46.2% 1 0% benign(0.012) tolerated(0.08) neutral(0.300) NULL COX18 285521 genome.wustl.edu 37 4 73933815 73933815 + Nonsense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000438579 -1 known p.Y123* 0.994 238 0% 136 44.1% 12 58.3% - - - NULL ANKRD17 26057 genome.wustl.edu 37 4 73951145 73951145 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032217.3 -1 reviewed p.S2327L 0.987 87 0% 45 51.1% 36 47.2% possibly_damaging(0.873) deleterious(0.02) deleterious(0.722) NULL ANKRD17 26057 genome.wustl.edu 37 4 73964166 73964166 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032217.3 -1 reviewed p.T1549A 1.000 301 0% 128 38.3% 12 33.3% benign(0.014) tolerated(0.71) neutral(0.002) NULL ANKRD17 26057 genome.wustl.edu 37 4 74014649 74014649 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032217.3 -1 reviewed p.A483V 1.000 119 0% 60 56.7% 19 68.4% benign(0.114) tolerated(0.41) neutral(0.024) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat AFP 174 genome.wustl.edu 37 4 74310721 74310721 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134.1 +1 reviewed p.K242R 0.000 118 0% 62 40.3% 0 - possibly_damaging(0.533) tolerated(1) neutral(0.180) superfamily_Serum_albumin,HMMPfam_Serum_albumin,HMMSmart_ALBUMIN AFP 174 genome.wustl.edu 37 4 74313300 74313300 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134.1 +1 reviewed p.K322T 0.975 114 0% 49 14.3% 0 - benign(0.037) tolerated(0.36) neutral(0.022) superfamily_Serum_albumin,HMMPfam_Serum_albumin,HMMSmart_ALBUMIN AFM 173 genome.wustl.edu 37 4 74361043 74361043 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001133.2 +1 reviewed p.H362R 0.992 217 0% 35 42.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 CXCL2 2920 genome.wustl.edu 37 4 74964334 74964334 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002089.3 -1 validated p.E98K 0.000 212 0% 168 38.7% 3 33.3% benign(0) tolerated(0.38) neutral(0.018) HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines BTC 685 genome.wustl.edu 37 4 75681119 75681119 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000512743 -1 known p.A56V 0.999 181 0% 100 33% 0 - - - - NULL PARM1 25849 genome.wustl.edu 37 4 75938361 75938361 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015393.2 +1 validated e2+1 1.000 60 0% 40 15% 0 - - - - - G3BP2 9908 genome.wustl.edu 37 4 76580343 76580343 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012297.4 -1 validated p.P211 0.963 499 0% 225 41.3% 67 59.7% - - - NULL PPEF2 5470 genome.wustl.edu 37 4 76781991 76781991 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006239.2 -1 reviewed p.I697 1.000 68 0% 45 11.1% 0 - - - - HMMSmart_SM00054,superfamily_EF-hand NUP54 53371 genome.wustl.edu 37 4 77039288 77039288 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017426.2 -1 reviewed p.E408 0.998 240 0% 127 18.9% 44 15.9% - - - NULL CCDC158 339965 genome.wustl.edu 37 4 77288468 77288468 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042784.1 -1 validated p.R603 0.219 137 0% 70 11.4% 0 - - - - NULL SOWAHB 345079 genome.wustl.edu 37 4 77817944 77817944 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029870.1 -1 provisional p.D353 0.000 12 0% 15 40% 1 100% - - - NULL SEPT11 55752 genome.wustl.edu 37 4 77955651 77955651 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018243.2 +1 validated p.A426T 1.000 73 0% 24 37.5% 32 40.6% unknown(0) tolerated(0.19) - NULL FRAS1 80144 genome.wustl.edu 37 4 79158708 79158708 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025074.6 +1 reviewed p.C51 1.000 76 0% 54 16.7% 2 0% - - - HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00215 FRAS1 80144 genome.wustl.edu 37 4 79166390 79166390 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025074.6 +1 reviewed p.E74* 1.000 173 0% 90 42.2% 2 0% - - - HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00215 FRAS1 80144 genome.wustl.edu 37 4 79429981 79429981 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025074.6 +1 reviewed p.P3200S 1.000 52 0% 29 44.8% 17 41.1% benign(0.394) tolerated(0.16) neutral(0.186) NULL FRAS1 80144 genome.wustl.edu 37 4 79434608 79434608 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025074.6 +1 reviewed p.P3358L 1.000 151 0% 75 17.3% 23 8.6% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL BMP2K 55589 genome.wustl.edu 37 4 79800024 79800024 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198892.1 +1 reviewed p.E644* 1.000 224 0% 87 46% 4 25% - - - NULL BMP2K 55589 genome.wustl.edu 37 4 79832454 79832454 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198892.1 +1 reviewed p.E918G 0.012 101 0% 42 38.1% 2 0% unknown(0) deleterious(0) - NULL GK2 2712 genome.wustl.edu 37 4 80329159 80329159 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033214.2 -1 validated p.E66K 1.000 415 0% 253 42.7% 0 - benign(0.006) tolerated(0.3) neutral(0.029) HMMPfam_FGGY_N,superfamily_SSF53067 FGF5 2250 genome.wustl.edu 37 4 81188263 81188263 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004464.3 +1 reviewed p.V95 0.998 9 0.000 15 0.467 0 - - - - HMMPfam_FGF,HMMSmart_SM00442,superfamily_Cytokine FGF5 2250 genome.wustl.edu 37 4 81207804 81207804 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004464.3 +1 reviewed p.R262K 1.000 38 0% 12 41.7% 0 - benign(0.004) deleterious(0.04) neutral(0.349) NULL SEC31A 22872 genome.wustl.edu 37 4 83788412 83788412 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077207.1 -1 reviewed p.R314* 0.997 153 0% 101 45.5% 66 10.6% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 THAP9 79725 genome.wustl.edu 37 4 83838804 83838804 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024672.4 +1 validated p.Q480R 0.641 146 0% 66 43.9% 1 100% probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL PLAC8 51316 genome.wustl.edu 37 4 84015856 84015856 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130715.1 -1 validated p.A111V 0.947 234 0% 124 40.3% 2 0% possibly_damaging(0.513) tolerated(0.13) neutral(0.425) NULL HPSE 10855 genome.wustl.edu 37 4 84227368 84227368 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098540.1 -1 validated p.F398 0.361 267 0% 113 41.6% 2 0% - - - superfamily_(Trans)glycosidases HELQ 113510 genome.wustl.edu 37 4 84342795 84342795 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133636.2 -1 validated p.F957C 1.000 397 0% 119 51.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NKX6-1 4825 genome.wustl.edu 37 4 85416963 85416963 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006168.2 -1 validated p.K235N 1.000 118 0% 87 43.7% 4 50% unknown(0) deleterious(0.01) - HMMSmart_SM00389,superfamily_Homeodomain-like WDFY3 23001 genome.wustl.edu 37 4 85719193 85719193 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014991.4 -1 reviewed p.R964M 1.000 644 0% 370 40% 5 20% possibly_damaging(0.685) deleterious(0.02) deleterious(0.627) NULL ARHGAP24 83478 genome.wustl.edu 37 4 86844897 86844897 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001025616.2 +1 validated p.R122Q 1.000 91 0% 38 44.7% 5 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARHGAP24 83478 genome.wustl.edu 37 4 86916019 86916019 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001025616.2 +1 validated p.K404N 0.737 101 0% 40 57.5% 5 80% benign(0) tolerated(0.34) neutral(0.023) NULL PTPN13 5783 genome.wustl.edu 37 4 87695570 87695570 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080685.2 +1 reviewed p.S1803 1.000 72 0% 34 32.4% 1 0% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ PTPN13 5783 genome.wustl.edu 37 4 87728798 87728798 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080685.2 +1 reviewed p.F2282 0.340 106 0% 51 43.1% 16 68.7% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 AFF1 4299 genome.wustl.edu 37 4 88047277 88047277 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005935.2 +1 validated p.S860L 0.024 42 0% 26 42.3% 19 31.5% unknown(0) tolerated(0.19) - HMMPfam_AF-4 HSD17B11 51170 genome.wustl.edu 37 4 88312056 88312056 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016245.3 -1 validated p.F56C 1.000 179 0% 96 45.8% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains SPARCL1 8404 genome.wustl.edu 37 4 88415308 88415308 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128310.1 -1 validated p.N215T 0.000 454 0% 222 45% 36 11.1% benign(0.129) deleterious(0.02) neutral(0.394) NULL IBSP 3381 genome.wustl.edu 37 4 88732921 88732921 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004967.3 +1 reviewed p.Y271 0.407 57 0% 24 41.7% 1 0% - - - HMMPfam_BSP_II ABCG2 9429 genome.wustl.edu 37 4 89052995 89052995 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004827.2 -1 reviewed p.R113Q 1.000 154 0% 72 51.4% 0 - benign(0.006) tolerated(0.63) neutral(0.004) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HERC6 55008 genome.wustl.edu 37 4 89314671 89314671 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017912.3 +1 validated p.A232 0.016 133 0% 86 47.7% 3 33.3% - - - superfamily_RCC1/BLIP-II HERC6 55008 genome.wustl.edu 37 4 89345751 89345751 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017912.3 +1 validated p.P611H 0.000 430 0% 124 36.3% 5 40% benign(0.156) tolerated(0.56) neutral(0.021) NULL HERC6 55008 genome.wustl.edu 37 4 89349834 89349834 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017912.3 +1 validated p.R680C 0.998 120 0% 39 51.3% 3 33.3% possibly_damaging(0.847) deleterious(0) deleterious(0.770) superfamily_Hect E3 ligase catalytic domain HERC5 51191 genome.wustl.edu 37 4 89425479 89425479 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016323.2 +1 reviewed p.D893 0.493 290 0.3% 97 45.4% 1 100% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain FAM13A 10144 genome.wustl.edu 37 4 89912197 89912197 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014883.2 -1 validated p.V178L 1.000 152 0% 88 38.6% 5 60% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP TIGD2 166815 genome.wustl.edu 37 4 90034286 90034286 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145715.2 +1 reviewed p.N54S 0.842 212 0% 134 42.5% 5 20% benign(0.004) tolerated(0.77) neutral(0.001) superfamily_Homeodomain_like GPRIN3 285513 genome.wustl.edu 37 4 90170393 90170393 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198281.2 -1 validated p.R290H 0.000 31 0% 19 63.2% 8 62.5% benign(0) tolerated(0.54) neutral(0.007) NULL GPRIN3 285513 genome.wustl.edu 37 4 90170432 90170432 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198281.2 -1 validated p.C277Y 0.000 24 0% 17 41.2% 10 30% benign(0.071) deleterious(0) neutral(0.450) NULL FAM190A 401145 genome.wustl.edu 37 4 91229834 91229834 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145065.1 +1 validated p.E133D 0.997 197 0% 59 35.6% 0 - benign(0.151) tolerated(0.12) neutral(0.274) NULL FAM190A 401145 genome.wustl.edu 37 4 91234041 91234041 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145065.1 +1 validated p.R451H 0.990 154 0% 48 52.1% 3 33.3% probably_damaging(0.999) tolerated(0.41) deleterious(0.505) NULL FAM190A 401145 genome.wustl.edu 37 4 92007141 92007141 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145065.1 +1 validated p.R738I 1.000 461 0% 115 35.7% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL GRID2 2895 genome.wustl.edu 37 4 94376818 94376818 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001510.2 +1 validated p.A517 0.002 91 0% 58 48.3% 0 - - - - HMMSmart_PBPe,superfamily_SSF53850 PDLIM5 10611 genome.wustl.edu 37 4 95444923 95444923 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006457.3 +1 reviewed p.V49M 0.997 189 0% 73 46.6% 26 57.6% benign(0.082) tolerated(0.12) neutral(0.267) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like BMPR1B 658 genome.wustl.edu 37 4 96052612 96052612 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001203.2 +1 reviewed p.K342I 1.000 133 0% 53 41.5% 16 56.2% possibly_damaging(0.529) tolerated(0.05) deleterious(0.524) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase UNC5C 8633 genome.wustl.edu 37 4 96171776 96171776 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003728.2 -1 reviewed p.D213Y 1.000 209 0.5% 83 10.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin C4orf37 285555 genome.wustl.edu 37 4 98633932 98633932 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174952.2 -1 validated p.S413Y 0.978 334 0% 105 40% 0 - possibly_damaging(0.519) deleterious(0.05) deleterious(0.520) NULL C4orf37 285555 genome.wustl.edu 37 4 98761953 98761953 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174952.2 -1 validated p.R392Q 0.481 171 0% 73 52.1% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL TSPAN5 10098 genome.wustl.edu 37 4 99393738 99393738 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005723.3 -1 reviewed p.I248V 1.000 60 0% 46 41.3% 3 33.3% benign(0.012) tolerated(0.18) neutral(0.057) HMMPfam_Tetraspannin EIF4E 1977 genome.wustl.edu 37 4 99830902 99830902 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000504432 -1 known p.R10I 0.864 27 0% 21 47.6% 0 - unknown(0) tolerated(0.1) - NULL METAP1 23173 genome.wustl.edu 37 4 99966411 99966411 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015143.2 +1 validated p.R246Q 1.000 245 0% 109 41.3% 65 41.5% benign(0.003) tolerated(0.4) neutral(0.016) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase METAP1 23173 genome.wustl.edu 37 4 99970013 99970013 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015143.2 +1 validated p.V306A 1.000 264 0% 73 41.1% 52 51.9% benign(0.336) deleterious(0.01) deleterious(0.512) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase,PatternScan_MAP_1 ADH6 130 genome.wustl.edu 37 4 100131313 100131313 + Missense_Mutation SNP C C T rs61755961 byCluster;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102470.1 -1 reviewed p.A165T 0.816 234 0.4% 75 45.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GroES_like C4orf17 84103 genome.wustl.edu 37 4 100463218 100463218 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032149.2 +1 validated p.Y344 0.001 144 0% 49 16.3% 0 - - - - NULL RG9MTD2 93587 genome.wustl.edu 37 4 100477320 100477320 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134665.1 -1 validated p.G160* 1.000 801 0% 325 43.7% 4 0% - - - HMMPfam_tRNA_m1G_MT MTTP 4547 genome.wustl.edu 37 4 100529959 100529959 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000253.2 +1 reviewed p.R532C 0.277 96 0% 34 29.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Vitellogenin_N,HMMSmart_LPD_N,superfamily_LV_superhelical BANK1 55024 genome.wustl.edu 37 4 102751159 102751159 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017935.4 +1 reviewed p.L89M 0.918 206 0% 77 46.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL BANK1 55024 genome.wustl.edu 37 4 102751189 102751189 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017935.4 +1 reviewed p.Q99K 0.937 212 0% 74 43.2% 0 - benign(0.097) tolerated(0.56) neutral(0.014) NULL NFKB1 4790 genome.wustl.edu 37 4 103505841 103505841 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003998.3 +1 reviewed p.F310L 1.000 263 0% 69 40.6% 8 25% probably_damaging(0.975) deleterious(0.02) deleterious(0.800) superfamily_ANK,HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set MANBA 4126 genome.wustl.edu 37 4 103578884 103578884 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005908.3 -1 reviewed p.S553 1.000 231 0% 77 31.2% 16 75% - - - HMMPfam_Glyco_hydro_2_C,superfamily_Glyco_hydro_cat CENPE 1062 genome.wustl.edu 37 4 104054036 104054036 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001813.2 -1 validated p.F2246L 0.958 339 0% 114 41.2% 6 83.3% benign(0.042) tolerated(1) neutral(0.003) NULL CENPE 1062 genome.wustl.edu 37 4 104067039 104067039 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001813.2 -1 validated p.L1454I 0.994 423 0.2% 184 51.1% 2 50% benign(0.133) tolerated(0.06) neutral(0.334) NULL CENPE 1062 genome.wustl.edu 37 4 104079938 104079938 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001813.2 -1 validated p.L903M 0.063 449 0% 113 46% 4 75% probably_damaging(0.996) tolerated(0.33) deleterious(0.486) NULL CENPE 1062 genome.wustl.edu 37 4 104080192 104080192 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001813.2 -1 validated p.S859L 0.000 252 0% 73 49.3% 3 100% benign(0) tolerated(0.62) neutral(0.004) NULL TACR3 6870 genome.wustl.edu 37 4 104510929 104510929 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001059.1 -1 reviewed p.F436L 0.614 209 0% 64 43.8% 0 - benign(0.032) tolerated(0.66) neutral(0.004) NULL CXXC4 80319 genome.wustl.edu 37 4 105412285 105412285 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025212.1 -1 provisional p.E56D 1.000 38 0% 29 44.8% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL TET2 54790 genome.wustl.edu 37 4 106156520 106156520 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127208.1 +1 validated p.P474L 0.020 128 0% 62 41.9% 9 44.4% benign(0) tolerated(1) - NULL ARHGEF38 54848 genome.wustl.edu 37 4 106510418 106510418 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017700.1 +1 validated p.P70 0.974 209 0% 109 41.3% 1 0% - - - superfamily_DH-domain GSTCD 79807 genome.wustl.edu 37 4 106640256 106640256 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031720.2 +1 validated p.L156 0.990 78 0% 38 36.8% 2 50% - - - superfamily_Glutathione S-transferase (GST) C-terminal domain TBCK 93627 genome.wustl.edu 37 4 107154110 107154110 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033115.3 -1 validated p.L479I 1.000 182 0% 47 38.3% 6 16.6% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC TBCK 93627 genome.wustl.edu 37 4 107183309 107183309 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000273980 -1 known p.K109 0.978 260 0% 106 34.9% 7 57.1% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DKK2 27123 genome.wustl.edu 37 4 107845797 107845797 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014421.2 -1 reviewed p.T145I 0.997 266 0% 124 43.5% 0 - benign(0.113) tolerated(0.15) neutral(0.250) NULL SGMS2 166929 genome.wustl.edu 37 4 108829871 108829871 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136257.1 +1 reviewed p.S293L 0.997 162 0% 56 55.4% 6 50% benign(0) deleterious(0) neutral(0.445) NULL AGXT2L1 64850 genome.wustl.edu 37 4 109672163 109672163 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031279.3 -1 validated p.F210 1.000 159 0% 80 31.2% 0 - - - - HMMPfam_Aminotran_3,superfamily_PLP-dependent transferases CCDC109B 55013 genome.wustl.edu 37 4 110605760 110605760 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017918.4 +1 validated p.A258 0.684 369 0% 187 33.7% 29 37.9% - - - HMMPfam_DUF607 CASP6 839 genome.wustl.edu 37 4 110610593 110610593 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001226.3 -1 reviewed p.R259C 1.000 170 0% 92 32.6% 30 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CFI 3426 genome.wustl.edu 37 4 110667381 110667381 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000204.3 -1 reviewed p.K476Q 0.981 176 0% 97 40.2% 5 0% probably_damaging(0.978) tolerated(0.23) neutral(0.462) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases EGF 1950 genome.wustl.edu 37 4 110895862 110895862 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001963.4 +1 reviewed p.K576N 0.966 237 0% 86 37.2% 0 - benign(0.38) tolerated(0.16) neutral(0.181) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 EGF 1950 genome.wustl.edu 37 4 110904666 110904666 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001963.4 +1 reviewed p.Q820 0.000 150 0% 52 34.6% 2 50% - - - NULL EGF 1950 genome.wustl.edu 37 4 110908907 110908907 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001963.4 +1 reviewed p.D833 0.770 133 0% 55 41.8% 2 100% - - - NULL ELOVL6 79071 genome.wustl.edu 37 4 110980894 110980894 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130721.1 -1 validated p.R80* 1.000 76 0% 38 47.4% 14 28.5% - - - HMMPfam_ELO ENPEP 2028 genome.wustl.edu 37 4 111427817 111427817 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001977.3 +1 validated p.Q315* 0.981 180 0.6% 84 47.6% 1 100% - - - "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" ENPEP 2028 genome.wustl.edu 37 4 111482588 111482588 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001977.3 +1 validated p.P916 0.899 309 0% 138 42% 3 0% - - - NULL ALPK1 80216 genome.wustl.edu 37 4 113345129 113345129 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102406.1 +1 validated p.S169G 1.000 287 0% 125 24% 1 0% benign(0) tolerated(0.07) neutral(0.319) NULL ALPK1 80216 genome.wustl.edu 37 4 113351683 113351683 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102406.1 +1 validated p.E327G 0.953 143 0% 57 12.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C4orf21 55345 genome.wustl.edu 37 4 113502849 113502849 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000505019 -1 known p.R1470W 0.996 465 0.2% 146 37% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C4orf21 55345 genome.wustl.edu 37 4 113508884 113508884 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000505019 -1 known p.S1110L 0.008 64 0% 19 47.4% 1 0% benign(0.147) deleterious(0) neutral(0.458) NULL C4orf21 55345 genome.wustl.edu 37 4 113540240 113540240 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000505019 -1 known p.T320A 0.000 148 0% 69 42% 1 100% possibly_damaging(0.942) tolerated(0.43) neutral(0.401) NULL LARP7 51574 genome.wustl.edu 37 4 113574350 113574350 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015454.1 +1 validated p.E512* 0.969 196 0% 74 55.4% 20 10% - - - HMMPfam_RRM_3,superfamily_RNA-binding domain RBD ANK2 287 genome.wustl.edu 37 4 114275377 114275377 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001148.4 +1 reviewed p.P1868H 0.390 100 1% 37 35.1% 0 - possibly_damaging(0.87) - - NULL ANK2 287 genome.wustl.edu 37 4 114276104 114276104 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001148.4 +1 reviewed p.V2110 0.000 70 0% 31 51.6% 0 - - - - NULL ANK2 287 genome.wustl.edu 37 4 114277290 114277290 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001148.4 +1 reviewed p.R2506W 1.000 63 0% 17 58.8% 0 - probably_damaging(1) - - NULL ANK2 287 genome.wustl.edu 37 4 114277836 114277836 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001148.4 +1 reviewed p.R2688* 0.997 129 0% 42 54.8% 0 - - - - NULL ANK2 287 genome.wustl.edu 37 4 114288935 114288935 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001148.4 +1 reviewed p.V3749G 0.002 77 0% 20 25% 0 - possibly_damaging(0.872) - - NULL ARSJ 79642 genome.wustl.edu 37 4 114824586 114824586 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024590.3 -1 validated p.P215H 0.994 151 0.7% 84 13.1% 24 12.5% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like NDST4 64579 genome.wustl.edu 37 4 115858623 115858623 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022569.1 -1 provisional p.A420T 1.000 108 0% 79 35.4% 0 - possibly_damaging(0.857) deleterious(0.01) deleterious(0.737) NULL NDST4 64579 genome.wustl.edu 37 4 115997717 115997717 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022569.1 -1 provisional p.V159A 1.000 160 0% 36 25% 0 - probably_damaging(0.968) deleterious(0.05) deleterious(0.755) NULL METTL14 57721 genome.wustl.edu 37 4 119625187 119625187 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020961.2 +1 provisional p.A279V 1.000 396 0% 124 40.3% 9 33.3% possibly_damaging(0.879) tolerated(0.07) deleterious(0.661) HMMPfam_MT-A70 SYNPO2 171024 genome.wustl.edu 37 4 119951081 119951081 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133477.2 +1 validated p.T384M 0.996 77 1.3% 85 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP53 54532 genome.wustl.edu 37 4 120181690 120181690 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019050.2 +1 validated p.R235H 1.000 352 0% 182 44.5% 3 33.3% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_UCH,superfamily_SSF54001 FABP2 2169 genome.wustl.edu 37 4 120241951 120241951 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000134.3 -1 reviewed p.K38 0.155 196 0% 88 40.9% 0 - - - - HMMPfam_Lipocalin,superfamily_Lipocalins PDE5A 8654 genome.wustl.edu 37 4 120463695 120463695 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083.3 -1 reviewed p.I497 1.000 204 0% 91 39.6% 1 100% - - - HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like PDE5A 8654 genome.wustl.edu 37 4 120463730 120463730 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083.3 -1 reviewed p.R486* 1.000 255 0% 92 47.8% 0 - - - - HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like LOC730456 730456 genome.wustl.edu 37 4 120549878 120549878 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001724855.1 +1 model p.A50D 0.009 17 0% 14 35.7% 3 66.6% - - - NULL MAD2L1 4085 genome.wustl.edu 37 4 120986914 120986914 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002358.3 -1 reviewed p.R45* 0.949 206 0.5% 107 46.7% 32 0% - - - HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2 PRDM5 11107 genome.wustl.edu 37 4 121719426 121719426 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018699.2 -1 reviewed p.K395T 1.000 159 0% 45 44.4% 0 - possibly_damaging(0.575) deleterious(0.03) deleterious(0.561) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NDNF 79625 genome.wustl.edu 37 4 121958449 121958449 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024574.3 -1 validated p.A226V 0.996 264 0% 112 49.1% 2 100% probably_damaging(0.961) deleterious(0.02) deleterious(0.787) HMMSmart_FN3,superfamily_FN_III-like QRFPR 84109 genome.wustl.edu 37 4 122257962 122257962 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198179.2 -1 validated p.E187D 1.000 69 0% 27 44.4% 1 0% possibly_damaging(0.947) deleterious(0.04) deleterious(0.740) HMMPfam_7tm_1,superfamily_SSF81321 ANXA5 308 genome.wustl.edu 37 4 122604595 122604595 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001154.3 -1 reviewed p.K76I 1.000 445 0% 169 35.5% 193 54.9% possibly_damaging(0.63) deleterious(0) deleterious(0.664) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 TMEM155 132332 genome.wustl.edu 37 4 122682793 122682793 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152399.2 -1 validated p.E38* 0.022 147 0% 89 42.7% 0 - - - - NULL BBS7 55212 genome.wustl.edu 37 4 122766662 122766662 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176824.1 -1 reviewed p.I409M 0.982 325 0% 111 44.1% 3 33.3% benign(0.005) deleterious(0.02) neutral(0.383) NULL TRPC3 7222 genome.wustl.edu 37 4 122835939 122835939 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130698.1 -1 validated p.S446I 1.000 37 0% 23 65.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL KIAA1109 84162 genome.wustl.edu 37 4 123147897 123147897 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000424425 +1 known p.F775V 1.000 249 0% 143 44.1% 4 100% - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123167848 123167848 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015312.3 +1 reviewed p.C1732Y 1.000 170 0% 58 43.1% 4 25% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) NULL KIAA1109 84162 genome.wustl.edu 37 4 123265633 123265633 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015312.3 +1 reviewed p.R4217H 1.000 219 0% 85 49.4% 17 52.9% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL KIAA1109 84162 genome.wustl.edu 37 4 123271021 123271021 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000306802 +1 known p.S923L 1.000 401 0% 107 43.9% 26 50% - - - HMMPfam_FSA_C KIAA1109 84162 genome.wustl.edu 37 4 123283285 123283285 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015312.3 +1 reviewed p.W4967* 1.000 192 0% 80 16.3% 17 29.4% - - - HMMPfam_FSA_C ADAD1 132612 genome.wustl.edu 37 4 123336566 123336566 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139243.3 +1 validated p.E428K 1.000 226 0% 91 46.2% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_A_deamin,HMMSmart_SM00552 SPATA5 166378 genome.wustl.edu 37 4 123855812 123855812 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145207.2 +1 validated p.G356* 1.000 123 0% 34 23.5% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SPATA5 166378 genome.wustl.edu 37 4 123949467 123949467 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145207.2 +1 validated p.L666F 1.000 197 0% 79 41.8% 1 100% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD50 57182 genome.wustl.edu 37 4 125590319 125590319 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020337.2 -1 validated p.S1371R 1.000 405 0% 120 14.2% 6 16.6% possibly_damaging(0.468) tolerated(0.22) neutral(0.196) NULL ANKRD50 57182 genome.wustl.edu 37 4 125593462 125593462 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020337.2 -1 validated p.R324C 1.000 188 0% 59 64.4% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAT4 79633 genome.wustl.edu 37 4 126237906 126237906 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024582.4 +1 validated p.A114T 1.000 15 0% 23 21.7% 1 100% benign(0.005) tolerated(0.25) neutral(0.037) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126239613 126239613 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024582.4 +1 validated p.N683D 0.999 114 0% 98 38.8% 3 33.3% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126239929 126239929 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024582.4 +1 validated p.D788A 1.000 128 0% 85 27.1% 3 0% probably_damaging(1) tolerated(0.67) deleterious(0.502) HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126242301 126242301 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024582.4 +1 validated p.R1579C 1.000 54 0% 49 57.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126369759 126369759 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024582.4 +1 validated p.G2530R 0.853 150 0% 51 39.2% 0 - possibly_damaging(0.862) tolerated(0.76) neutral(0.334) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126369969 126369969 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024582.4 +1 validated p.S2600P 1.000 172 0% 39 43.6% 0 - probably_damaging(0.988) tolerated(0.23) deleterious(0.479) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126372675 126372675 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024582.4 +1 validated p.D3502N 1.000 112 0% 50 36% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126411473 126411473 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024582.4 +1 validated p.S4499F 1.000 34 0% 33 42.4% 4 0% possibly_damaging(0.697) deleterious(0) deleterious(0.695) NULL FAT4 79633 genome.wustl.edu 37 4 126412356 126412356 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024582.4 +1 validated p.E4793D 1.000 36 0% 35 34.3% 9 55.5% probably_damaging(0.987) tolerated(0.07) deleterious(0.756) NULL INTU 27152 genome.wustl.edu 37 4 128627785 128627785 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015693.3 +1 validated p.E644 0.226 157 0% 66 43.9% 11 63.6% - - - NULL INTU 27152 genome.wustl.edu 37 4 128627962 128627962 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015693.3 +1 validated p.K703N 0.938 164 0% 80 12.5% 8 0% possibly_damaging(0.655) deleterious(0.02) deleterious(0.614) NULL C4orf29 80167 genome.wustl.edu 37 4 128905523 128905523 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039717.1 +1 predicted p.N41I 1.000 387 0% 147 49% 2 50% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_DUF2048 C4orf29 80167 genome.wustl.edu 37 4 128905532 128905532 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039717.1 +1 predicted p.R44K 1.000 389 0% 152 40.1% 2 50% benign(0) tolerated(1) - HMMPfam_DUF2048 LARP1B 55132 genome.wustl.edu 37 4 129012544 129012544 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018078.2 +1 reviewed p.R182M 0.999 417 0.2% 189 34.4% 14 50% benign(0.159) tolerated(0.08) neutral(0.314) NULL LARP1B 55132 genome.wustl.edu 37 4 129035799 129035799 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018078.2 +1 reviewed p.A355S 0.992 209 0% 89 36% 3 0% benign(0) tolerated(0.4) neutral(0.016) NULL PHF17 79960 genome.wustl.edu 37 4 129770294 129770294 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199320.2 +1 validated p.E152 0.993 113 0.9% 74 50% 14 21.4% - - - HMMPfam_EPL1 PHF17 79960 genome.wustl.edu 37 4 129773277 129773277 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199320.2 +1 validated p.D184N 1.000 108 0% 59 49.2% 7 42.8% possibly_damaging(0.858) deleterious(0.01) deleterious(0.737) NULL PHF17 79960 genome.wustl.edu 37 4 129789079 129789079 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199320.2 +1 validated p.E524D 1.000 205 0% 83 45.8% 6 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL PCDH10 57575 genome.wustl.edu 37 4 134073469 134073469 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032961.1 +1 reviewed p.V725A 1.000 35 0% 34 38.2% 1 0% possibly_damaging(0.927) deleterious(0.02) deleterious(0.758) NULL PCDH10 57575 genome.wustl.edu 37 4 134073782 134073782 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032961.1 +1 reviewed p.S829 1.000 54 0% 72 41.7% 4 50% - - - NULL PCDH18 54510 genome.wustl.edu 37 4 138442481 138442481 + Missense_Mutation SNP C C T rs111581489 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019035.3 -1 reviewed p.R1037H 0.981 16 0% 16 50% 11 36.3% probably_damaging(0.996) tolerated(0.16) deleterious(0.521) NULL PCDH18 54510 genome.wustl.edu 37 4 138451584 138451584 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019035.3 -1 reviewed p.P553 0.001 127 0% 58 46.6% 11 54.5% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH18 54510 genome.wustl.edu 37 4 138452456 138452456 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019035.3 -1 reviewed p.T263A 1.000 95 0% 18 50% 0 - possibly_damaging(0.888) deleterious(0.02) deleterious(0.730) HMMPfam_Cadherin,superfamily_Cadherin-like SLC7A11 23657 genome.wustl.edu 37 4 139140465 139140465 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014331.3 -1 validated p.R234Q 1.000 240 0% 98 52% 3 0% benign(0.288) tolerated(0.63) neutral(0.092) HMMPfam_AA_permease CCRN4L 25819 genome.wustl.edu 37 4 139966215 139966215 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012118.2 +1 reviewed p.R295W 0.995 40 0% 29 55.2% 18 38.8% benign(0.066) deleterious(0.02) neutral(0.388) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos ELF2 1998 genome.wustl.edu 37 4 139980672 139980672 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201999.1 -1 validated p.G404A 1.000 105 0% 53 45.3% 19 42.1% probably_damaging(0.989) tolerated(0.21) deleterious(0.483) NULL NAA15 80155 genome.wustl.edu 37 4 140306024 140306024 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_057175.3 +1 validated p.T732S 1.000 218 0% 65 49.2% 14 42.8% benign(0.138) tolerated(0.63) neutral(0.015) NULL RAB33B 83452 genome.wustl.edu 37 4 140393923 140393923 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031296.1 +1 provisional p.V111 1.000 91 0% 39 43.6% 9 44.4% - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 ELMOD2 255520 genome.wustl.edu 37 4 141446706 141446706 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153702.2 +1 validated p.Q42* 0.994 359 0% 207 40.6% 4 0% - - - NULL ZNF330 27309 genome.wustl.edu 37 4 142155041 142155041 + Silent SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014487.4 +1 validated p.G287 0.120 231 0% 87 46% 33 45.4% - - - HMMPfam_NOA36 INPP4B 8821 genome.wustl.edu 37 4 143003276 143003276 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101669.1 -1 reviewed p.S850 0.473 153 0% 58 51.7% 1 0% - - - NULL INPP4B 8821 genome.wustl.edu 37 4 143326389 143326389 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000507462 -1 known p.D9N 0.995 81 0% 28 28.6% 0 - - - - NULL USP38 84640 genome.wustl.edu 37 4 144135087 144135087 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032557.5 +1 validated p.P653L 0.124 173 0% 51 31.4% 15 33.3% benign(0.005) tolerated(0.1) neutral(0.286) HMMPfam_UCH,superfamily_Cysteine proteinases SMARCA5 8467 genome.wustl.edu 37 4 144469179 144469179 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003601.2 +1 reviewed p.C957 1.000 241 0% 55 47.3% 59 45.7% - - - HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_SLIDE FREM3 166752 genome.wustl.edu 37 4 144507036 144507036 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000329798 -1 known p.A2047T 0.108 129 0% 94 51.1% 1 100% benign(0) tolerated(0.7) neutral(0.002) HMMPfam_Calx-beta,HMMSmart_SM00237 FREM3 166752 genome.wustl.edu 37 4 144620549 144620549 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000329798 -1 known p.S427F 0.934 31 0% 43 48.8% 0 - possibly_damaging(0.893) deleterious(0) deleterious(0.796) NULL GYPE 2996 genome.wustl.edu 37 4 144797924 144797924 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002102.3 -1 reviewed p.S74Y 0.000 375 0% 131 48.1% 0 - benign(0.041) tolerated(0.12) neutral(0.263) NULL HHIP 64399 genome.wustl.edu 37 4 145567966 145567966 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022475.1 +1 reviewed p.R47C 1.000 48 0% 46 43.5% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Folate_rec ANAPC10 10393 genome.wustl.edu 37 4 145916538 145916538 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014885.3 -1 validated p.R182H 1.000 288 0% 96 47.9% 13 30.7% possibly_damaging(0.72) deleterious(0.03) deleterious(0.625) HMMPfam_APC10 ANAPC10 10393 genome.wustl.edu 37 4 145916699 145916699 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014885.3 -1 validated p.H128 0.997 245 0.4% 101 45.5% 27 33.3% - - - HMMPfam_APC10,superfamily_Gal_bind_like OTUD4 54726 genome.wustl.edu 37 4 146085374 146085374 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102653.1 -1 reviewed p.D51Y 1.000 129 0% 49 34.7% 1 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_OTU,superfamily_SSF54001 OTUD4 54726 genome.wustl.edu 37 4 146095877 146095877 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000394097 -1 known p.R60H 0.997 253 0% 153 40.5% 5 60% possibly_damaging(0.723) tolerated(0.77) neutral(0.264) HMMPfam_OTU,superfamily_Cysteine proteinases SMAD1 4086 genome.wustl.edu 37 4 146461008 146461008 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003688.1 +1 reviewed p.S151 1.000 139 0% 65 44.6% 25 52% - - - NULL SLC10A7 84068 genome.wustl.edu 37 4 147227103 147227103 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029998.3 -1 validated p.V177D 1.000 205 0% 59 13.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SBF POU4F2 5458 genome.wustl.edu 37 4 147560580 147560580 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004575.2 +1 validated p.P96 1.000 13 0% 14 35.7% 0 - - - - NULL POU4F2 5458 genome.wustl.edu 37 4 147561190 147561190 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004575.2 +1 validated p.A154T 1.000 56 0% 66 39.4% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL TTC29 83894 genome.wustl.edu 37 4 147795982 147795982 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031956.2 -1 validated p.A229T 1.000 270 0% 86 44.2% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_TPR-like TTC29 83894 genome.wustl.edu 37 4 147830230 147830230 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031956.2 -1 validated p.K116 1.000 61 0% 22 36.4% 0 - - - - superfamily_TPR-like PRMT10 90826 genome.wustl.edu 37 4 148594185 148594185 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138364.2 -1 provisional p.N223T 1.000 207 0% 75 18.7% 6 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_S-adenosyl-L-methionine-dependent methyltransferases ARHGAP10 79658 genome.wustl.edu 37 4 148984319 148984319 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024605.3 +1 validated p.S683F 0.009 121 0% 75 42.7% 2 50% benign(0.28) tolerated(0.23) neutral(0.128) NULL NR3C2 4306 genome.wustl.edu 37 4 149073676 149073676 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000901.4 -1 reviewed p.S818 0.997 220 0% 112 43.8% 2 50% - - - HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor LRBA 987 genome.wustl.edu 37 4 151203671 151203671 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000509835 -1 known p.T1402M 0.003 210 0% 125 44.8% 32 78.1% - - - superfamily_WD40 repeat-like LRBA 987 genome.wustl.edu 37 4 151271207 151271207 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006726.2 -1 validated p.F2444L 1.000 221 0% 110 40.9% 13 92.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like MAB21L2 10586 genome.wustl.edu 37 4 151504637 151504637 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006439.4 +1 reviewed p.I152 1.000 16 0% 20 35% 0 - - - - HMMPfam_Mab-21 LRBA 987 genome.wustl.edu 37 4 151738356 151738356 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006726.2 -1 validated p.T1742R 0.011 365 0% 105 45.7% 17 64.7% benign(0.024) deleterious(0.03) neutral(0.365) superfamily_ARM repeat LRBA 987 genome.wustl.edu 37 4 151773771 151773771 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006726.2 -1 validated p.E1031* 0.543 506 0% 225 38.2% 5 40% - - - superfamily_ARM repeat LRBA 987 genome.wustl.edu 37 4 151829818 151829818 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006726.2 -1 validated p.M451I 1.000 144 0% 52 44.2% 5 100% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_ARM repeat FAM160A1 729830 genome.wustl.edu 37 4 152567787 152567787 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001109977.1 +1 predicted p.A435V 1.000 129 0% 76 40.8% 8 50% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL PET112 5188 genome.wustl.edu 37 4 152629191 152629191 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004564.2 -1 validated p.R276* 0.998 68 0% 47 40.4% 11 9% - - - HMMPfam_GatB_N FBXW7 55294 genome.wustl.edu 37 4 153332802 153332802 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033632.2 -1 reviewed p.H52Y 1.000 371 0% 161 24.8% 15 6.6% unknown(0) deleterious(0) - NULL TIGD4 201798 genome.wustl.edu 37 4 153690843 153690843 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145720.2 -1 reviewed p.S438 0.000 168 0% 107 51.4% 1 100% - - - NULL ARFIP1 27236 genome.wustl.edu 37 4 153750843 153750843 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001025595.1 +1 validated p.E20* 1.000 343 0% 112 37.5% 12 33.3% - - - NULL TLR2 7097 genome.wustl.edu 37 4 154624732 154624732 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003264.3 +1 reviewed p.E225K 0.021 267 0% 121 42.1% 3 66.6% benign(0) tolerated(0.88) - superfamily_SSF52058 SFRP2 6423 genome.wustl.edu 37 4 154702869 154702869 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003013.2 -1 reviewed p.R208* 0.995 294 0% 201 42.3% 13 30.7% - - - superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643 SFRP2 6423 genome.wustl.edu 37 4 154709592 154709592 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003013.2 -1 reviewed p.F132 1.000 18 0% 25 44% 27 3.7% - - - superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 DCHS2 54798 genome.wustl.edu 37 4 155219579 155219579 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017639.3 -1 validated p.G1508C 1.000 112 0% 42 45.2% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155253804 155253804 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017639.3 -1 validated p.D687Y 1.000 127 0% 92 40.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PLRG1 5356 genome.wustl.edu 37 4 155461763 155461763 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002669.2 -1 provisional p.R308* 0.998 151 0% 61 44.3% 56 3.5% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 PLRG1 5356 genome.wustl.edu 37 4 155463404 155463404 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002669.2 -1 provisional p.R208* 1.000 221 0% 102 41.2% 24 16.6% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FGA 2243 genome.wustl.edu 37 4 155507374 155507374 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000508.3 -1 reviewed p.A403T 0.000 69 0% 38 47.4% 0 - benign(0) tolerated(0.18) neutral(0.056) HMMPfam_Fib_alpha FGA 2243 genome.wustl.edu 37 4 155507535 155507535 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000508.3 -1 reviewed p.P349L 0.015 118 0% 51 19.6% 0 - benign(0.059) deleterious(0.01) neutral(0.410) HMMPfam_Fib_alpha RBM46 166863 genome.wustl.edu 37 4 155719125 155719125 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144979.3 +1 validated p.F105C 1.000 546 0% 354 62.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 RBM46 166863 genome.wustl.edu 37 4 155719365 155719365 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144979.3 +1 validated p.G185A 1.000 40 0% 57 57.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 RBM46 166863 genome.wustl.edu 37 4 155720713 155720713 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144979.3 +1 validated p.L467V 1.000 41 0% 22 22.7% 0 - benign(0.236) deleterious(0) neutral(0.468) NULL RBM46 166863 genome.wustl.edu 37 4 155749035 155749035 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144979.3 +1 validated p.R473H 1.000 194 0.5% 95 23.2% 0 - possibly_damaging(0.903) tolerated(0.11) deleterious(0.629) NULL MAP9 79884 genome.wustl.edu 37 4 156273836 156273836 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039580.1 -1 validated p.K578T 1.000 841 0% 262 51.1% 2 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL GUCY1B3 2983 genome.wustl.edu 37 4 156696163 156696163 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000857.2 +1 validated p.I41L 1.000 332 0% 124 46.8% 3 33.3% benign(0.219) tolerated(0.23) neutral(0.063) HMMPfam_HNOB,superfamily_H-NOX domain GUCY1B3 2983 genome.wustl.edu 37 4 156698691 156698691 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000857.2 +1 validated p.E65A 1.000 422 0% 206 35% 13 46.1% benign(0.001) tolerated(0.72) neutral(0.002) HMMPfam_HNOB,superfamily_H-NOX domain ASIC5 51802 genome.wustl.edu 37 4 156784766 156784766 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017419.2 -1 reviewed p.R61C 0.865 157 0% 47 51.1% 0 - probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_ASC TDO2 6999 genome.wustl.edu 37 4 156826283 156826283 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005651.2 +1 validated p.E69G 1.000 315 0% 108 40.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trp_dioxygenase FAM198B 51313 genome.wustl.edu 37 4 159048640 159048640 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031700.2 -1 validated p.I501 0.800 427 0% 132 46.2% 9 22.2% - - - NULL FAM198B 51313 genome.wustl.edu 37 4 159091428 159091428 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031700.2 -1 validated p.P328S 0.030 148 0.7% 84 42.9% 1 0% benign(0.024) tolerated(0.38) neutral(0.019) NULL FNIP2 57600 genome.wustl.edu 37 4 159782802 159782802 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020840.1 +1 validated p.A447T 1.000 176 0% 127 15% 5 40% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL FNIP2 57600 genome.wustl.edu 37 4 159817010 159817010 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020840.1 +1 validated p.V1087I 0.985 190 0% 82 43.9% 4 50% probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL RAPGEF2 9693 genome.wustl.edu 37 4 160253704 160253704 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014247.2 +1 validated p.P503T 1.000 191 0% 97 43.3% 4 50% probably_damaging(0.973) deleterious(0.03) deleterious(0.779) superfamily_Ras_GEF NAF1 92345 genome.wustl.edu 37 4 164048188 164048188 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128931.1 -1 validated p.F371 0.247 101 0% 53 49.1% 6 16.6% - - - NULL NPY5R 4889 genome.wustl.edu 37 4 164272391 164272391 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006174.2 +1 provisional p.Q322H 0.099 288 0% 161 39.8% 0 - benign(0.001) tolerated(0.16) neutral(0.059) HMMPfam_7tm_1,superfamily_SSF81321 TKTL2 84076 genome.wustl.edu 37 4 164393202 164393202 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032136.4 -1 validated p.T562I 0.998 87 1.1% 57 57.9% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Transketolase_C,superfamily_Transketo_C_like TKTL2 84076 genome.wustl.edu 37 4 164394410 164394410 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032136.4 -1 validated p.S159 0.152 54 0% 31 35.5% 0 - - - - HMMPfam_Transketolase_N,superfamily_SSF52518 TKTL2 84076 genome.wustl.edu 37 4 164394544 164394544 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032136.4 -1 validated p.R115* 0.001 65 0% 41 46.3% 0 - - - - HMMPfam_Transketolase_N,superfamily_SSF52518 ANP32C 23520 genome.wustl.edu 37 4 165118572 165118572 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012403.1 -1 reviewed p.D98Y 1.000 405 0.2% 189 86.2% 0 - - - - HMMPfam_LRR_1,superfamily_L domain-like KLHL2 11275 genome.wustl.edu 37 4 166184481 166184481 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007246.3 +1 validated p.D172N 0.998 194 0% 93 11.8% 6 0% possibly_damaging(0.439) deleterious(0) deleterious(0.588) HMMPfam_BACK KLHL2 11275 genome.wustl.edu 37 4 166226845 166226845 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007246.3 +1 validated p.V336A 0.999 100 0% 47 34% 7 14.2% benign(0.017) tolerated(0.14) neutral(0.250) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central TLL1 7092 genome.wustl.edu 37 4 166978453 166978453 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012464.3 +1 reviewed p.S613N 1.000 60 0% 27 37% 0 - possibly_damaging(0.493) tolerated(0.23) neutral(0.206) superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin TLL1 7092 genome.wustl.edu 37 4 166981212 166981212 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012464.3 +1 reviewed p.G627S 1.000 177 0% 68 26.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ANXA10 11199 genome.wustl.edu 37 4 169098922 169098922 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007193.3 +1 reviewed p.A171V 0.847 145 0% 86 44.2% 0 - benign(0.167) tolerated(0.16) neutral(0.074) superfamily_Annexin DDX60 55601 genome.wustl.edu 37 4 169172229 169172229 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017631.5 -1 validated p.K1245T 0.000 701 0% 269 42.4% 3 0% possibly_damaging(0.484) tolerated(0.12) neutral(0.421) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60 55601 genome.wustl.edu 37 4 169183243 169183243 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017631.5 -1 validated p.K1061E 1.000 404 0% 135 40% 4 0% benign(0.218) tolerated(0.32) neutral(0.045) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60 55601 genome.wustl.edu 37 4 169201624 169201624 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017631.5 -1 validated p.E614* 0.903 495 0% 193 42.5% 1 0% - - - NULL DDX60L 91351 genome.wustl.edu 37 4 169321991 169321991 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012967.1 -1 validated p.K1159N 0.001 393 0% 177 45.2% 2 50% benign(0.156) tolerated(0.08) neutral(0.314) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60L 91351 genome.wustl.edu 37 4 169336568 169336568 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012967.1 -1 validated p.T990 0.181 231 0.4% 62 50% 3 66.6% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SH3RF1 57630 genome.wustl.edu 37 4 170076716 170076716 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020870.3 -1 reviewed p.L227R 1.000 256 0% 72 37.5% 10 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain NEK1 4750 genome.wustl.edu 37 4 170347326 170347326 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012224.1 -1 validated p.T954N 0.001 253 0% 91 47.3% 4 50% benign(0) tolerated(0.86) neutral(0.001) NULL CLCN3 1182 genome.wustl.edu 37 4 170628311 170628311 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173872.2 +1 validated p.E681D 1.000 109 0% 63 36.5% 17 35.2% benign(0.001) tolerated(0.13) neutral(0.253) HMMPfam_CBS,HMMSmart_CBS C4orf27 54969 genome.wustl.edu 37 4 170663164 170663164 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017867.2 -1 validated p.E198* 0.957 820 0% 418 46.7% 13 0% - - - HMMPfam_DUF2228 MFAP3L 9848 genome.wustl.edu 37 4 170913395 170913395 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021647.6 -1 validated p.K122E 0.997 23 0% 19 36.8% 18 55.5% benign(0.098) deleterious(0.02) neutral(0.391) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HPGD 3248 genome.wustl.edu 37 4 175416700 175416700 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000860.4 -1 reviewed p.A166V 1.000 76 0% 27 33.3% 189 5.2% possibly_damaging(0.947) deleterious(0.01) deleterious(0.796) HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-bd ADAM29 11086 genome.wustl.edu 37 4 175898602 175898602 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130703.1 +1 reviewed p.C642 0.998 41 0% 24 33.3% 0 - - - - NULL GPM6A 2823 genome.wustl.edu 37 4 176561928 176561928 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000510747 -1 known p.S74F 1.000 443 0% 144 39.6% 0 - - - - NULL GPM6A 2823 genome.wustl.edu 37 4 176594954 176594954 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005277.3 -1 validated p.I88 0.461 106 0% 42 61.9% 0 - - - - HMMPfam_Myelin_PLP GPM6A 2823 genome.wustl.edu 37 4 176622827 176622827 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005277.3 -1 validated p.F43L 1.000 70 0% 29 51.7% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_Myelin_PLP,PatternScan_MYELIN_PLP_1 WDR17 116966 genome.wustl.edu 37 4 177046389 177046389 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170710.4 +1 reviewed p.R249C 1.000 395 0% 182 47.3% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMSmart_WD40,superfamily_Amine_DH_B_like SPATA4 132851 genome.wustl.edu 37 4 177109387 177109387 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144644.2 -1 provisional e5-1 0.978 167 0% 67 41.8% 0 - - - - - SPATA4 132851 genome.wustl.edu 37 4 177113986 177113986 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144644.2 -1 provisional p.I160 0.998 162 0% 75 46.7% 0 - - - - HMMPfam_DUF1042 ODZ3 55714 genome.wustl.edu 37 4 183652104 183652104 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080477.1 +1 provisional p.H927N 1.000 286 0% 135 54.1% 0 - benign(0.149) deleterious(0.01) neutral(0.419) superfamily_CarboxypepD_reg,superfamily_ConA_like_lec_gl ODZ3 55714 genome.wustl.edu 37 4 183664528 183664528 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080477.1 +1 provisional p.R1195 0.990 62 0% 32 46.9% 0 - - - - superfamily_ConA_like_lec_gl,superfamily_SSF101898 ODZ3 55714 genome.wustl.edu 37 4 183694705 183694705 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080477.1 +1 provisional p.A1658D 1.000 161 0% 95 40% 0 - possibly_damaging(0.507) tolerated(0.12) neutral(0.430) superfamily_ConA_like_lec_gl DCTD 1635 genome.wustl.edu 37 4 183814198 183814198 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012732.1 -1 reviewed p.A159 0.017 57 0% 33 45.5% 45 57.7% - - - superfamily_Cytidine_deaminase-like DCTD 1635 genome.wustl.edu 37 4 183836205 183836205 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012732.1 -1 reviewed p.A50T 1.000 74 0% 88 44.3% 37 35.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_dCMP_cyt_deam_1,superfamily_Cytidine_deaminase-like CLDN22 53842 genome.wustl.edu 37 4 184241148 184241148 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111319.1 -1 provisional p.A75V 0.000 132 0% 91 36.3% 2 50% benign(0.017) tolerated(0.31) neutral(0.028) HMMPfam_PMP22_Claudin CDKN2AIP 55602 genome.wustl.edu 37 4 184366773 184366773 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017632.2 +1 provisional p.E120K 1.000 162 0% 94 39.4% 16 62.5% probably_damaging(0.955) deleterious(0.01) deleterious(0.804) NULL ING2 3622 genome.wustl.edu 37 4 184432022 184432022 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001564.2 +1 validated p.Y254H 1.000 235 0% 98 42.9% 22 63.6% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMSmart_PHD,superfamily_FYVE_PHD_ZnF,PatternScan_ZF_PHD_1,HMMPfam_PHD STOX2 56977 genome.wustl.edu 37 4 184931214 184931214 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020225.1 +1 provisional p.R408M 1.000 64 0% 49 38.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IRF2 3660 genome.wustl.edu 37 4 185339801 185339801 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002199.3 -1 reviewed p.C83 1.000 282 0% 139 43.9% 10 50% - - - "HMMPfam_IRF,HMMSmart_SM00348,superfamily_""Winged helix"" DNA-binding domain" ACSL1 2180 genome.wustl.edu 37 4 185683628 185683628 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001995.2 -1 reviewed p.A524V 0.951 186 0% 107 42.1% 16 37.5% benign(0) tolerated(0.13) neutral(0.253) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSL1 2180 genome.wustl.edu 37 4 185709801 185709801 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001995.2 -1 reviewed p.E94K 0.986 87 0% 38 47.4% 12 50% possibly_damaging(0.455) deleterious(0.01) deleterious(0.554) superfamily_Acetyl-CoA synthetase-like KIAA1430 57587 genome.wustl.edu 37 4 186111550 186111550 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020827.1 -1 validated p.Q267 1.000 477 0% 272 47.8% 15 46.6% - - - NULL LRP2BP 55805 genome.wustl.edu 37 4 186288341 186288341 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018409.3 -1 validated p.R346I 0.938 225 0% 116 49.1% 0 - benign(0.01) deleterious(0.02) neutral(0.384) NULL LRP2BP 55805 genome.wustl.edu 37 4 186299233 186299233 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018409.3 -1 validated e1+2 0.934 444 0% 204 42.6% 3 0% - - - - ANKRD37 353322 genome.wustl.edu 37 4 186320148 186320148 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000335174 +1 known p.L80I 1.000 228 0% 146 37% 98 34.6% benign(0.186) tolerated(0.53) neutral(0.025) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK UFSP2 55325 genome.wustl.edu 37 4 186336936 186336936 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018359.3 -1 validated p.G140E 0.577 187 0% 85 40% 13 30.7% benign(0) tolerated(1) - NULL C4orf47 441054 genome.wustl.edu 37 4 186353157 186353157 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114357.1 +1 predicted p.S41I 1.000 277 0% 134 50% 0 - benign(0.347) tolerated(0.39) neutral(0.126) NULL SORBS2 8470 genome.wustl.edu 37 4 186532987 186532987 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021069.4 -1 reviewed p.P1011S 1.000 411 0% 194 11.3% 26 19.2% probably_damaging(1) tolerated(0.33) deleterious(0.524) superfamily_SH3-domain SORBS2 8470 genome.wustl.edu 37 4 186560170 186560170 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000445625 -1 known p.R133* 1.000 31 0% 12 33.3% 0 - possibly_damaging(0.493) tolerated(0.08) neutral(0.465) NULL SORBS2 8470 genome.wustl.edu 37 4 186583271 186583271 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021069.4 -1 reviewed p.H27 0.999 68 0% 45 42.2% 13 15.3% - - - NULL FAM149A 25854 genome.wustl.edu 37 4 187084064 187084064 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006655.2 +1 validated p.P265 0.063 65 0% 45 11.1% 28 0% - - - NULL F11 2160 genome.wustl.edu 37 4 187195329 187195329 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000128.3 +1 reviewed p.V129I 0.000 145 0% 72 45.8% 0 - benign(0) tolerated(0.67) neutral(0.003) HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1 F11 2160 genome.wustl.edu 37 4 187201488 187201488 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000128.3 +1 reviewed p.R326H 1.000 102 0% 89 18% 0 - probably_damaging(1) tolerated(0.25) deleterious(0.537) HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1 FAT1 2195 genome.wustl.edu 37 4 187532695 187532695 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005245.3 -1 reviewed p.R3233P 1.000 56 0% 35 48.6% 28 42.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187535426 187535426 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005245.3 -1 reviewed p.A3050T 1.000 329 0% 141 45.4% 28 42.8% probably_damaging(0.999) tolerated(0.3) deleterious(0.519) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187539690 187539690 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005245.3 -1 reviewed p.E2684* 0.911 124 0% 67 49.3% 18 55.5% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187542455 187542455 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005245.3 -1 reviewed p.A1762V 0.000 121 0% 82 35.4% 11 27.2% benign(0.003) tolerated(1) - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187542861 187542861 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005245.3 -1 reviewed p.R1627* 1.000 30 0% 18 50% 10 30% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187630437 187630437 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005245.3 -1 reviewed p.G182E 1.000 263 0% 138 52.9% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ZFP42 132625 genome.wustl.edu 37 4 188924089 188924089 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174900.3 +1 validated p.V43A 0.000 71 0% 38 36.8% 0 - benign(0.013) tolerated(0.81) neutral(0.001) NULL TRIML1 339976 genome.wustl.edu 37 4 189060800 189060800 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178556.3 +1 provisional p.E30K 0.494 65 0% 43 55.8% 0 - possibly_damaging(0.697) tolerated(0.05) deleterious(0.595) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 TRIML1 339976 genome.wustl.edu 37 4 189065193 189065193 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178556.3 +1 provisional p.S254 0.023 30 0% 46 60.9% 0 - - - - NULL PLEKHG4B 153478 genome.wustl.edu 37 5 182166 182166 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052909.3 +1 validated p.A1182T 0.173 27 3.7% 13 61.5% 12 50% benign(0.001) deleterious(0.05) neutral(0.345) NULL SDHA 6389 genome.wustl.edu 37 5 251560 251560 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004168.2 +1 reviewed p.A591T 0.980 25 0% 14 35.7% 194 46.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Succ_DH_flav_C,superfamily_Succinate dehydrogenase/fumarate reductase flavoprotein C-terminal domain AHRR 57491 genome.wustl.edu 37 5 422929 422929 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020731.3 +1 reviewed p.D180G 1.000 25 0% 28 28.6% 0 - possibly_damaging(0.833) deleterious(0.04) deleterious(0.666) HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) EXOC3 11336 genome.wustl.edu 37 5 462158 462158 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007277.4 +1 reviewed p.A492V 0.999 47 0% 37 48.6% 22 72.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Sec6 SLC9A3 6550 genome.wustl.edu 37 5 484762 484762 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004174.2 -1 validated p.A269T 1.000 5 0.000 12 0.417 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Na_H_Exchanger CEP72 55722 genome.wustl.edu 37 5 635629 635629 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018140.3 +1 reviewed p.P278 0.000 30 0% 31 35.5% 14 42.8% - - - NULL ZDHHC11B 653082 genome.wustl.edu 37 5 766896 766896 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_926053.4 -1 model p.A47T 0.000 15 0% 28 50% 1 100% benign(0.003) tolerated(0.35) neutral(0.021) NULL ZDHHC11 79844 genome.wustl.edu 37 5 840739 840739 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024786.2 -1 validated p.L219M 0.976 17 0% 16 43.8% 9 66.6% benign(0.144) deleterious(0.05) neutral(0.358) NULL BRD9 65980 genome.wustl.edu 37 5 876233 876233 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023924.4 -1 validated p.L360I 0.911 29 0% 30 13.3% 18 5.5% benign(0) tolerated(1) - NULL BRD9 65980 genome.wustl.edu 37 5 889242 889242 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023924.4 -1 validated p.D51G 1.000 286 0% 135 12.6% 12 16.6% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain BRD9 65980 genome.wustl.edu 37 5 891311 891311 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000467963 -1 known p.P120L 0.981 20 0% 39 41% 13 46.1% benign(0.338) tolerated(0.36) neutral(0.127) superfamily_Bromodomain TRIP13 9319 genome.wustl.edu 37 5 908507 908507 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004237.3 +1 reviewed p.A266V 1.000 38 2.6% 26 46.2% 35 42.8% possibly_damaging(0.804) deleterious(0.01) deleterious(0.708) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC12A7 10723 genome.wustl.edu 37 5 1083902 1083902 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006598.2 -1 validated p.E363K 0.964 12 0% 14 28.6% 36 47.2% benign(0.005) tolerated(1) - HMMPfam_AA_permease CLPTM1L 81037 genome.wustl.edu 37 5 1338036 1338036 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030782.3 -1 provisional p.R221C 0.994 47 0% 40 47.5% 73 38.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CLPTM1 LPCAT1 79888 genome.wustl.edu 37 5 1479738 1479738 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024830.3 -1 validated p.E272K 1.000 90 0% 67 14.9% 69 14.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF69593 LPCAT1 79888 genome.wustl.edu 37 5 1494910 1494910 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024830.3 -1 validated p.A133V 0.998 12 0% 15 46.7% 60 48.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 C5orf38 153571 genome.wustl.edu 37 5 2755148 2755148 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178569.2 +1 provisional p.R137I 0.005 157 0.6% 97 42.3% 0 - unknown(0) - - NULL IRX1 79192 genome.wustl.edu 37 5 3600724 3600724 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024337.3 +1 validated p.E438D 1.000 25 0% 17 47.1% 0 - benign(0.004) tolerated(1) - NULL ADAMTS16 170690 genome.wustl.edu 37 5 5239870 5239870 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139056.2 +1 reviewed p.Y785* 1.000 141 0% 92 46.7% 0 - - - - HMMPfam_ADAM_spacer1 ADAMTS16 170690 genome.wustl.edu 37 5 5242273 5242273 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139056.2 +1 reviewed p.V877 0.649 35 0% 17 35.3% 0 - - - - HMMSmart_SM00209 ADAMTS16 170690 genome.wustl.edu 37 5 5303758 5303758 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139056.2 +1 reviewed p.A1022V 0.582 10 0.000 5 0.800 0 - benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS16 170690 genome.wustl.edu 37 5 5306709 5306709 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139056.2 +1 reviewed p.K1093N 1.000 76 0% 37 48.6% 0 - possibly_damaging(0.938) tolerated(0.19) neutral(0.433) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat KIAA0947 23379 genome.wustl.edu 37 5 5461851 5461851 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015325.1 +1 validated p.E802K 0.000 249 0.4% 126 46% 1 0% possibly_damaging(0.722) tolerated(0.27) neutral(0.295) NULL KIAA0947 23379 genome.wustl.edu 37 5 5462485 5462485 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015325.1 +1 validated p.G1013E 0.000 50 0% 40 35% 6 50% benign(0.195) tolerated(0.11) neutral(0.290) NULL KIAA0947 23379 genome.wustl.edu 37 5 5463449 5463449 + Silent SNP C C T rs141988637 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015325.1 +1 validated p.S1334 0.000 46 0% 28 46.4% 12 25% - - - NULL KIAA0947 23379 genome.wustl.edu 37 5 5464089 5464089 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015325.1 +1 validated p.P1548T 0.996 97 0% 45 24.4% 11 54.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA0947 23379 genome.wustl.edu 37 5 5464992 5464992 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015325.1 +1 validated p.R1849C 0.731 92 0% 73 56.2% 13 84.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PAPD7 11044 genome.wustl.edu 37 5 6746337 6746337 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006999.4 +1 reviewed p.R169I 0.984 111 0% 72 44.4% 4 25% probably_damaging(0.994) tolerated(0.05) deleterious(0.797) superfamily_PAP/OAS1 substrate-binding domain PAPD7 11044 genome.wustl.edu 37 5 6746462 6746462 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006999.4 +1 reviewed p.A211T 1.000 117 0% 64 51.6% 14 42.8% benign(0.017) tolerated(0.08) neutral(0.300) HMMPfam_PAP_assoc,superfamily_PAP/OAS1 substrate-binding domain C5orf49 134121 genome.wustl.edu 37 5 7835500 7835500 + Nonsense_Mutation SNP C C A rs16879215 byCluster;byFrequency;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001089584.1 -1 predicted p.E87* 0.946 357 0% 114 43.9% 2 0% - - - NULL SEMA5A 9037 genome.wustl.edu 37 5 9052018 9052018 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003966.2 -1 reviewed p.R938W 1.000 46 0% 26 46.2% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 SEMA5A 9037 genome.wustl.edu 37 5 9066626 9066626 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003966.2 -1 reviewed p.R736C 1.000 43 0% 37 56.8% 2 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SEMA5A 9037 genome.wustl.edu 37 5 9224815 9224815 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003966.2 -1 reviewed p.T206M 1.000 102 0% 66 37.9% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema FAM173B 134145 genome.wustl.edu 37 5 10236719 10236719 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199133.2 -1 validated p.A105 0.665 117 0% 86 46.5% 8 37.5% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases CCT5 22948 genome.wustl.edu 37 5 10254264 10254264 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012073.3 +1 reviewed p.I38T 1.000 216 0% 93 44.1% 169 48.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_GroEL equatorial domain-like CCT5 22948 genome.wustl.edu 37 5 10262702 10262702 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012073.3 +1 reviewed p.A430V 1.000 93 0% 57 54.4% 309 44.3% possibly_damaging(0.714) deleterious(0.02) deleterious(0.641) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like CMBL 134147 genome.wustl.edu 37 5 10286524 10286524 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138809.3 -1 validated p.T136 0.000 67 0% 59 45.8% 31 45.1% - - - HMMPfam_DLH,superfamily_SSF53474 MARCH6 10299 genome.wustl.edu 37 5 10381993 10381993 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005885.2 +1 provisional p.R91Q 1.000 388 0% 215 42.3% 15 33.3% probably_damaging(0.997) tolerated(0.1) deleterious(0.752) NULL MARCH6 10299 genome.wustl.edu 37 5 10405770 10405770 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005885.2 +1 provisional p.R478Q 1.000 598 0% 219 43.4% 27 37% probably_damaging(0.996) tolerated(0.06) deleterious(0.784) NULL ROPN1L 83853 genome.wustl.edu 37 5 10461310 10461310 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031916.3 +1 reviewed p.A144 0.242 27 0% 14 64.3% 3 66.6% - - - NULL DAP 1611 genome.wustl.edu 37 5 10748343 10748343 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004394.2 -1 reviewed p.H32 0.002 246 0% 184 43.5% 71 33.8% - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13716766 13716766 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001369.2 -1 reviewed p.G4247R 1.000 155 0% 64 45.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13776708 13776708 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001369.2 -1 reviewed p.H3071 0.995 134 0% 62 56.5% 0 - - - - superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13793781 13793781 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001369.2 -1 reviewed p.E2689D 1.000 98 0% 53 52.8% 0 - benign(0.005) tolerated(0.47) neutral(0.011) HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13914740 13914740 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001369.2 -1 reviewed p.Q403H 1.000 265 0% 87 44.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N1 DNAH5 1767 genome.wustl.edu 37 5 13931319 13931319 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001369.2 -1 reviewed p.A31V 1.000 121 0% 56 10.7% 0 - benign(0.245) tolerated(0.09) neutral(0.322) NULL LOC100289578 100289578 genome.wustl.edu 37 5 14297204 14297204 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342489.1 -1 model p.A89T 1.000 59 0% 40 47.5% 7 57.1% - - - NULL TRIO 7204 genome.wustl.edu 37 5 14399085 14399085 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007118.2 +1 validated p.R1507Q 1.000 362 0% 195 21% 11 27.2% unknown(0) deleterious(0) - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FAM105A 54491 genome.wustl.edu 37 5 14602327 14602327 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019018.2 +1 validated p.K128N 0.998 361 0% 191 41.9% 7 14.2% probably_damaging(0.999) tolerated(0.23) deleterious(0.532) NULL FAM105A 54491 genome.wustl.edu 37 5 14607542 14607542 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019018.2 +1 validated p.K201T 1.000 391 0% 239 41.4% 5 40% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL FAM105A 54491 genome.wustl.edu 37 5 14610394 14610394 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019018.2 +1 validated p.D348N 1.000 29 0% 23 39.1% 8 62.5% possibly_damaging(0.638) deleterious(0.04) deleterious(0.573) NULL ANKH 56172 genome.wustl.edu 37 5 14751264 14751264 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_054027.4 -1 reviewed p.A201T 1.000 40 0% 20 30% 50 50% probably_damaging(0.99) tolerated(0.1) deleterious(0.728) HMMPfam_ANKH FBXL7 23194 genome.wustl.edu 37 5 15928167 15928167 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012304.3 +1 reviewed p.P99L 1.000 10 0% 13 53.8% 0 - possibly_damaging(0.85) deleterious(0.01) deleterious(0.733) NULL FBXL7 23194 genome.wustl.edu 37 5 15937133 15937133 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012304.3 +1 reviewed p.C438 1.000 16 0% 24 41.7% 2 0% - - - HMMSmart_SM00367,superfamily_RNI-like MARCH11 441061 genome.wustl.edu 37 5 16177951 16177951 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102562.1 -1 provisional p.R193W 1.000 141 0% 82 43.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00744,HMMPfam_zf-C3HC4 FAM134B 54463 genome.wustl.edu 37 5 16565901 16565901 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001034850.1 -1 reviewed p.G143 1.000 77 0% 45 17.8% 7 0% - - - NULL FAM134B 54463 genome.wustl.edu 37 5 16572122 16572122 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001034850.1 -1 reviewed p.V137D 1.000 240 0% 74 43.2% 5 60% possibly_damaging(0.887) deleterious(0) deleterious(0.791) NULL MYO10 4651 genome.wustl.edu 37 5 16694659 16694659 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012334.2 -1 validated p.F1207 1.000 35 0% 38 42.1% 37 37.8% - - - superfamily_SSF50729 MYO10 4651 genome.wustl.edu 37 5 16701647 16701647 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012334.2 -1 validated p.C953R 1.000 23 0% 16 31.2% 65 44.6% probably_damaging(0.984) deleterious(0.02) deleterious(0.814) NULL MYO10 4651 genome.wustl.edu 37 5 16711312 16711312 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012334.2 -1 validated p.R658W 0.998 40 0% 25 48% 62 41.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 CDH18 1016 genome.wustl.edu 37 5 19544035 19544035 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004934.3 -1 reviewed p.V445I 0.788 322 0% 105 38.1% 0 - benign(0) tolerated(0.2) neutral(0.049) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH18 1016 genome.wustl.edu 37 5 19571921 19571921 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004934.3 -1 reviewed p.K340N 1.000 145 0% 65 43.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH12 1010 genome.wustl.edu 37 5 21752007 21752007 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004061.3 -1 reviewed p.E742K 1.000 363 0.3% 152 48% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Cadherin_C PRDM9 56979 genome.wustl.edu 37 5 23521286 23521286 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020227.2 +1 provisional p.L169P 0.220 281 0% 95 38.9% 0 - probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL PRDM9 56979 genome.wustl.edu 37 5 23523424 23523424 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020227.2 +1 provisional p.E303* 1.000 414 0% 151 41.1% 0 - - - - HMMSmart_SET,superfamily_SSF82199 PRDM9 56979 genome.wustl.edu 37 5 23526828 23526828 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020227.2 +1 provisional p.R544M 1.000 124 0% 64 18.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_ZnF_C2H2,superfamily_SSF57667 PRDM9 56979 genome.wustl.edu 37 5 23527516 23527516 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020227.2 +1 provisional p.E773D 1.000 80 0% 42 33.3% 0 - benign(0.091) deleterious(0.01) neutral(0.412) superfamily_SSF57667 CDH10 1008 genome.wustl.edu 37 5 24488207 24488207 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006727.2 -1 reviewed p.I644 1.000 49 0% 36 36.1% 0 - - - - HMMPfam_Cadherin_C CDH10 1008 genome.wustl.edu 37 5 24509697 24509697 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006727.2 -1 reviewed p.D412Y 1.000 245 0% 130 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH9 1007 genome.wustl.edu 37 5 26886184 26886184 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016279.3 -1 reviewed p.Q507H 1.000 50 0% 16 56.2% 0 - benign(0.037) tolerated(0.08) neutral(0.302) HMMPfam_Cadherin,superfamily_Cadherin PDZD2 23037 genome.wustl.edu 37 5 32071494 32071494 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178140.2 +1 reviewed p.T846 0.956 159 0% 111 42.3% 3 100% - - - NULL PDZD2 23037 genome.wustl.edu 37 5 32089096 32089096 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178140.2 +1 reviewed p.P1848S 0.012 90 0% 65 36.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GOLPH3 64083 genome.wustl.edu 37 5 32126476 32126476 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022130.3 -1 reviewed p.D247Y 1.000 112 0% 72 62.5% 130 45.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GPP34 MTMR12 54545 genome.wustl.edu 37 5 32230094 32230094 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040446.1 -1 reviewed p.I678 0.002 38 0% 49 53.1% 31 38.7% - - - NULL MTMR12 54545 genome.wustl.edu 37 5 32276821 32276821 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040446.1 -1 reviewed p.T37A 0.988 472 0% 197 48.7% 24 54.1% benign(0.002) tolerated(0.3) neutral(0.029) NULL ZFR 51663 genome.wustl.edu 37 5 32380223 32380223 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016107.3 -1 validated p.C899 1.000 68 0% 44 15.9% 51 13.7% - - - HMMPfam_DZF,HMMSmart_DZF ZFR 51663 genome.wustl.edu 37 5 32403401 32403401 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016107.3 -1 validated p.P442 0.975 200 0% 99 36.4% 43 58.1% - - - NULL ADAMTS12 81792 genome.wustl.edu 37 5 33881376 33881376 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030955.2 -1 reviewed p.L113I 0.998 104 0% 43 55.8% 3 0% probably_damaging(0.99) tolerated(0.19) deleterious(0.491) HMMPfam_Pep_M12B_propep SLC45A2 51151 genome.wustl.edu 37 5 33984543 33984543 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016180.3 -1 reviewed p.Y49C 1.000 51 0% 40 40% 0 - unknown(0) deleterious(0) - superfamily_MFS general substrate transporter RAI14 26064 genome.wustl.edu 37 5 34824554 34824554 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145525.1 +1 validated p.Y872 0.000 35 0% 25 52% 14 64.2% - - - NULL PRLR 5618 genome.wustl.edu 37 5 35066123 35066123 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000949.4 -1 validated p.E313* 1.000 42 0% 23 30.4% 4 50% - - - NULL PRLR 5618 genome.wustl.edu 37 5 35089666 35089666 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000949.4 -1 validated p.T19 0.000 147 0% 71 45.1% 0 - - - - NULL SPEF2 79925 genome.wustl.edu 37 5 35644508 35644508 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024867.3 +1 validated p.T156A 1.000 157 0% 38 36.8% 3 33.3% benign(0.054) tolerated(0.76) neutral(0.005) NULL SPEF2 79925 genome.wustl.edu 37 5 35691290 35691290 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024867.3 +1 validated p.A559V 0.850 267 0% 97 41.2% 1 0% probably_damaging(0.996) tolerated(0.25) deleterious(0.498) NULL SPEF2 79925 genome.wustl.edu 37 5 35700753 35700753 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024867.3 +1 validated p.A766V 0.000 374 0% 114 46.5% 1 0% unknown(0) deleterious(0.02) - superfamily_P-loop containing nucleoside triphosphate hydrolases SPEF2 79925 genome.wustl.edu 37 5 35763732 35763732 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024867.3 +1 validated p.E1243 0.002 215 0% 98 37.8% 0 - - - - NULL SPEF2 79925 genome.wustl.edu 37 5 35814649 35814649 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024867.3 +1 validated p.K1821N 1.000 190 0% 58 56.9% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL IL7R 3575 genome.wustl.edu 37 5 35873650 35873650 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002185.2 +1 reviewed p.E202 0.998 166 0% 67 38.8% 2 0% - - - PatternScan_HEMATOPO_REC_S_F1,HMMPfam_fn3,superfamily_Fibronectin type III UGT3A2 167127 genome.wustl.edu 37 5 36049366 36049366 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174914.3 -1 validated p.E156D 1.000 112 0% 36 50% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UDPGT,superfamily_SSF53756 UGT3A2 167127 genome.wustl.edu 37 5 36064411 36064411 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174914.3 -1 validated p.L46I 0.998 348 0% 187 38% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_UDPGT,superfamily_SSF53756 LMBRD2 92255 genome.wustl.edu 37 5 36137483 36137483 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007527.1 -1 validated p.K143N 1.000 266 0% 113 44.2% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LMBR1 NADKD1 133686 genome.wustl.edu 37 5 36195373 36195373 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001085411.1 -1 validated p.R401H 1.000 372 0% 130 40.8% 17 23.5% probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL NADKD1 133686 genome.wustl.edu 37 5 36200376 36200376 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001085411.1 -1 validated p.R340Q 0.976 483 0% 120 40% 12 41.6% benign(0.002) tolerated(0.51) neutral(0.009) NULL RANBP3L 202151 genome.wustl.edu 37 5 36251470 36251470 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145000.3 -1 validated p.C433 0.048 230 0% 106 52.8% 0 - - - - NULL SLC1A3 6507 genome.wustl.edu 37 5 36671138 36671138 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004172.4 +1 reviewed p.A109 0.997 47 0% 29 37.9% 5 60% - - - HMMPfam_SDF NIPBL 25836 genome.wustl.edu 37 5 36985304 36985304 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133433.3 +1 reviewed p.N674 0.988 104 0% 36 52.8% 5 40% - - - superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37059185 37059185 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133433.3 +1 reviewed p.E2535K 1.000 442 0% 156 39.1% 14 42.8% possibly_damaging(0.724) tolerated(0.17) neutral(0.322) NULL NIPBL 25836 genome.wustl.edu 37 5 37064977 37064977 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133433.3 +1 reviewed p.D2800N 1.000 45 0% 32 40.6% 36 55.5% possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL C5orf42 65250 genome.wustl.edu 37 5 37148344 37148344 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023073.3 -1 predicted p.F1644 0.248 633 0.2% 237 45.1% 2 50% - - - NULL C5orf42 65250 genome.wustl.edu 37 5 37164388 37164388 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023073.3 -1 predicted p.F1405 0.018 267 0% 142 52.1% 2 0% - - - NULL C5orf42 65250 genome.wustl.edu 37 5 37196095 37196095 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023073.3 -1 predicted p.R107* 1.000 160 0.6% 96 39.6% 2 100% - - - NULL WDR70 55100 genome.wustl.edu 37 5 37516670 37516670 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018034.2 +1 provisional p.F299L 1.000 344 0% 143 41.3% 15 53.3% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMSmart_WD40,superfamily_WD40_like EGFLAM 133584 genome.wustl.edu 37 5 38438405 38438405 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152403.2 +1 validated p.V771A 0.881 111 0.9% 42 47.6% 3 0% benign(0.039) tolerated(0.11) neutral(0.274) superfamily_ConA_like_lec_gl LIFR 3977 genome.wustl.edu 37 5 38511912 38511912 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127671.1 -1 reviewed p.S239I 1.000 119 0% 44 36.4% 1 0% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL OSMR 9180 genome.wustl.edu 37 5 38883961 38883961 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003999.2 +1 reviewed p.V151I 0.000 106 0% 33 39.4% 6 50% benign(0.026) tolerated(0.44) neutral(0.014) NULL OSMR 9180 genome.wustl.edu 37 5 38885506 38885506 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003999.2 +1 reviewed p.L253 0.980 154 0% 71 38% 1 100% - - - superfamily_Fibronectin type III OSMR 9180 genome.wustl.edu 37 5 38885550 38885550 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003999.2 +1 reviewed p.S268F 0.000 150 0% 74 44.6% 3 66.6% benign(0.023) tolerated(0.7) neutral(0.003) superfamily_Fibronectin type III OSMR 9180 genome.wustl.edu 37 5 38931984 38931984 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003999.2 +1 reviewed e15-1 0.653 427 0% 241 46.5% 0 - - - - - RICTOR 253260 genome.wustl.edu 37 5 38942431 38942431 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152756.3 -1 validated p.I1701T 0.033 207 0% 81 42% 6 33.3% benign(0) tolerated(0.35) neutral(0.021) NULL RICTOR 253260 genome.wustl.edu 37 5 38945076 38945076 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152756.3 -1 validated p.C1576 1.000 202 0% 77 31.2% 3 66.6% - - - superfamily_ARM repeat FYB 2533 genome.wustl.edu 37 5 39126206 39126206 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001465.3 -1 validated p.T647A 0.011 477 0% 134 43.3% 0 - benign(0.004) tolerated(0.41) neutral(0.015) NULL C9 735 genome.wustl.edu 37 5 39341770 39341770 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001737.3 -1 reviewed p.Q72H 0.998 115 0% 73 34.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 PTGER4 5734 genome.wustl.edu 37 5 40692311 40692311 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000958.2 +1 reviewed p.T433N 1.000 19 0% 15 46.7% 7 57.1% possibly_damaging(0.796) deleterious(0.03) deleterious(0.663) NULL RPL37 6167 genome.wustl.edu 37 5 40832665 40832665 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000997.4 -1 reviewed p.R79C 1.000 200 0% 100 41% 3434 44.7% benign(0.187) tolerated(0.06) neutral(0.340) NULL CARD6 84674 genome.wustl.edu 37 5 40853248 40853248 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032587.3 +1 reviewed p.A605V 1.000 177 0% 119 53.8% 1 0% benign(0.102) deleterious(0.01) neutral(0.414) NULL CARD6 84674 genome.wustl.edu 37 5 40853410 40853410 + Nonsense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000444789 +1 known p.K452* 0.998 38 0% 29 24.1% 3 0% possibly_damaging(0.733) deleterious(0) deleterious(0.713) NULL C7 730 genome.wustl.edu 37 5 40937774 40937774 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000587.2 +1 reviewed p.V183 1.000 518 0% 165 42.4% 0 - - - - NULL C7 730 genome.wustl.edu 37 5 40945299 40945299 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000587.2 +1 reviewed e7-1 1.000 110 0% 38 34.2% 0 - - - - - C7 730 genome.wustl.edu 37 5 40945430 40945430 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000587.2 +1 reviewed p.R233H 0.000 369 0.3% 99 52.5% 0 - benign(0) tolerated(0.39) neutral(0.016) HMMPfam_MACPF C7 730 genome.wustl.edu 37 5 40962263 40962263 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000587.2 +1 reviewed p.G580* 1.000 373 0% 131 43.5% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module C7 730 genome.wustl.edu 37 5 40976912 40976912 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000587.2 +1 reviewed p.R712I 0.999 295 0% 103 35% 1 100% possibly_damaging(0.616) deleterious(0.01) deleterious(0.620) HMMSmart_FIMAC HEATR7B2 133558 genome.wustl.edu 37 5 40998237 40998237 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173489.4 -1 validated p.P1559S 0.999 151 0% 47 27.7% 0 - benign(0.041) tolerated(0.28) neutral(0.034) superfamily_ARM repeat ZNF131 7690 genome.wustl.edu 37 5 43174930 43174930 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003432.1 +1 validated p.S489G 0.998 45 0% 29 13.8% 29 3.4% benign(0.001) tolerated(0.36) neutral(0.020) NULL NIM1 167359 genome.wustl.edu 37 5 43280378 43280378 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153361.2 +1 provisional p.G286 0.012 29 0% 20 45% 5 40% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NNT 23530 genome.wustl.edu 37 5 43609440 43609440 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012343.3 +1 reviewed p.V48A 0.448 250 0% 106 43.4% 19 57.8% benign(0) tolerated(0.35) neutral(0.021) NULL HCN1 348980 genome.wustl.edu 37 5 45262468 45262468 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021072.2 -1 validated p.P743L 0.421 49 2% 43 34.9% 0 - benign(0) tolerated(0.2) neutral(0.049) NULL HCN1 348980 genome.wustl.edu 37 5 45353235 45353235 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021072.2 -1 validated p.N448 1.000 325 0% 82 50% 0 - - - - superfamily_cNMP_binding EMB 133418 genome.wustl.edu 37 5 49699188 49699188 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198449.2 -1 reviewed p.S234F 0.680 262 0% 50 40% 0 - benign(0.071) tolerated(0.63) neutral(0.009) HMMSmart_SM00409,superfamily_Immunoglobulin ITGA1 3672 genome.wustl.edu 37 5 52194154 52194154 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181501.1 +1 reviewed p.R417Q 0.001 258 0.4% 110 50% 13 0% benign(0) tolerated(0.41) neutral(0.015) superfamily_SSF69318 ITGA1 3672 genome.wustl.edu 37 5 52240781 52240781 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181501.1 +1 reviewed p.F1098L 1.000 215 0% 108 36.1% 10 10% possibly_damaging(0.625) deleterious(0.01) deleterious(0.624) superfamily_SSF69179 ITGA2 3673 genome.wustl.edu 37 5 52360929 52360929 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002203.3 +1 reviewed p.R597H 0.973 201 0% 40 50% 1 100% benign(0.094) tolerated(0.11) neutral(0.279) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGA2 3673 genome.wustl.edu 37 5 52370896 52370896 + Silent SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002203.3 +1 reviewed p.T890 0.993 291 0% 48 39.6% 1 100% - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains ITGA2 3673 genome.wustl.edu 37 5 52376371 52376371 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002203.3 +1 reviewed p.A987T 1.000 227 0% 63 34.9% 6 16.6% possibly_damaging(0.905) tolerated(0.11) deleterious(0.631) HMMPfam_Integrin_alpha2,superfamily_Integrin domains MOCS2 4338 genome.wustl.edu 37 5 52404427 52404427 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176806.2 -1 reviewed p.R22H 0.974 302 0% 170 13.5% 24 16.6% probably_damaging(0.995) tolerated(0.13) deleterious(0.710) HMMPfam_ThiS,superfamily_Mo_synth/thiamin_syn_S_b-grasp HSPB3 8988 genome.wustl.edu 37 5 53751980 53751980 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006308.1 +1 provisional p.P121S 1.000 62 0% 23 30.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP20,superfamily_HSP20-like chaperones ESM1 11082 genome.wustl.edu 37 5 54275257 54275257 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007036.4 -1 reviewed p.D153V 0.997 159 0% 72 54.2% 16 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GZMA 3001 genome.wustl.edu 37 5 54405888 54405888 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006144.3 +1 reviewed p.R223* 0.009 208 0.5% 93 55.9% 13 0% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CDC20B 166979 genome.wustl.edu 37 5 54468474 54468474 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152623.2 -1 validated p.S23I 0.256 230 0% 151 44.4% 2 50% possibly_damaging(0.651) deleterious(0) deleterious(0.673) superfamily_WD40_like DHX29 54505 genome.wustl.edu 37 5 54565317 54565317 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019030.2 -1 validated p.L1073R 1.000 216 0% 82 19.5% 29 10.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HA2,superfamily_SSF52540 DHX29 54505 genome.wustl.edu 37 5 54579512 54579512 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019030.2 -1 validated p.L495R 1.000 672 0% 309 36.9% 9 44.4% possibly_damaging(0.94) deleterious(0) deleterious(0.830) NULL SKIV2L2 23517 genome.wustl.edu 37 5 54624594 54624594 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015360.4 +1 validated p.V157A 1.000 398 0% 148 40.5% 26 57.6% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 IL31RA 133396 genome.wustl.edu 37 5 55178895 55178895 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139017.4 +1 validated p.F160V 0.354 273 0% 131 13% 0 - benign(0.071) tolerated(0.25) neutral(0.042) HMMSmart_FN3,superfamily_FN_III-like IL31RA 133396 genome.wustl.edu 37 5 55185836 55185836 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139017.4 +1 validated p.N215 0.000 106 0% 60 40% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like IL31RA 133396 genome.wustl.edu 37 5 55185891 55185891 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139017.4 +1 validated p.R234* 0.510 158 0% 86 43% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like ANKRD55 79722 genome.wustl.edu 37 5 55407120 55407120 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024669.2 -1 validated p.G485 1.000 146 0% 74 40.5% 0 - - - - NULL MAP3K1 4214 genome.wustl.edu 37 5 56174829 56174829 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005921.1 +1 validated p.V663A 1.000 244 0% 59 39% 19 52.6% benign(0.122) tolerated(0.19) neutral(0.060) NULL MAP3K1 4214 genome.wustl.edu 37 5 56179374 56179374 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005921.1 +1 validated p.G1229 1.000 267 0% 105 45.7% 10 50% - - - superfamily_Kinase_like HTR1A 3350 genome.wustl.edu 37 5 63256615 63256615 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000524.2 -1 validated p.A311V 0.031 10 0% 14 42.9% 0 - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HTR1A 3350 genome.wustl.edu 37 5 63257378 63257378 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000524.2 -1 validated p.V57M 1.000 27 0% 27 51.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RNF180 285671 genome.wustl.edu 37 5 63496644 63496644 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113561.1 +1 validated p.S4R 0.970 369 0% 142 38% 1 0% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL CWC27 10283 genome.wustl.edu 37 5 64077801 64077801 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005869.2 +1 validated p.G65C 1.000 275 0% 112 46.4% 23 39.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_Cyclophilin-like ADAMTS6 11174 genome.wustl.edu 37 5 64447675 64447675 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_197941.2 -1 reviewed p.C1114 1.000 55 0% 49 16.3% 0 - - - - HMMPfam_PLAC ADAMTS6 11174 genome.wustl.edu 37 5 64466464 64466464 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_197941.2 -1 reviewed p.T1075I 1.000 50 0% 32 18.8% 0 - benign(0.055) tolerated(0.54) neutral(0.011) NULL ADAMTS6 11174 genome.wustl.edu 37 5 64595871 64595871 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000261306 -1 known p.E435* 1.000 167 0% 66 37.9% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS6 11174 genome.wustl.edu 37 5 64769450 64769450 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_197941.2 -1 reviewed p.A17 1.000 247 0% 110 38.2% 0 - - - - NULL ADAMTS6 11174 genome.wustl.edu 37 5 64769481 64769481 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_197941.2 -1 reviewed p.T7M 1.000 216 0% 100 44% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL PPWD1 23398 genome.wustl.edu 37 5 64880902 64880902 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015342.2 +1 validated p.T532A 1.000 372 0% 102 41.2% 22 50% benign(0.007) deleterious(0) neutral(0.445) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase TRIM23 373 genome.wustl.edu 37 5 64892345 64892345 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001656.3 -1 reviewed p.E441D 1.000 427 0% 136 40.4% 3 0% possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases C5orf44 80006 genome.wustl.edu 37 5 64956654 64956654 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001093755.1 +1 validated p.K276T 1.000 218 0% 70 52.9% 13 69.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_DUF974 C5orf44 80006 genome.wustl.edu 37 5 64960167 64960167 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001093755.1 +1 validated p.L369I 1.000 153 0% 55 41.8% 21 28.5% benign(0.007) tolerated(0.55) neutral(0.007) NULL SGTB 54557 genome.wustl.edu 37 5 64976372 64976372 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019072.2 -1 validated p.G210 0.969 375 0% 159 38.4% 2 50% - - - NULL ERBB2IP 55914 genome.wustl.edu 37 5 65340013 65340013 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018695.2 +1 reviewed p.N493H 1.000 339 0% 112 37.5% 4 50% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL ERBB2IP 55914 genome.wustl.edu 37 5 65349921 65349921 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018695.2 +1 reviewed p.Q925 0.540 70 0% 40 37.5% 10 60% - - - NULL SREK1 140890 genome.wustl.edu 37 5 65466677 65466677 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077199.1 +1 validated p.D462 0.998 268 0% 124 41.1% 17 52.9% - - - superfamily_SSF54928 PIK3R1 5295 genome.wustl.edu 37 5 67569268 67569268 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181523.1 +1 reviewed p.P129S 1.000 144 0% 80 22.5% 11 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP PIK3R1 5295 genome.wustl.edu 37 5 67588951 67588951 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181523.1 +1 reviewed p.R348* 1.000 207 0% 102 46.1% 63 34.9% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain PIK3R1 5295 genome.wustl.edu 37 5 67589586 67589591 + In_Frame_Del DEL ATGAAT ATGAAT - novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 ATGAAT ATGAAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181523.1 +1 reviewed p.EY451in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL SLC30A5 64924 genome.wustl.edu 37 5 68412341 68412341 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022902.2 +1 provisional p.S398L 0.999 243 0% 77 40.3% 23 47.8% possibly_damaging(0.77) deleterious(0) deleterious(0.730) NULL CCNB1 891 genome.wustl.edu 37 5 68464052 68464052 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031966.2 +1 reviewed p.P82H 0.993 198 0% 172 32% 82 52.4% probably_damaging(0.972) deleterious(0.05) deleterious(0.759) NULL CCNB1 891 genome.wustl.edu 37 5 68470121 68470121 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031966.2 +1 reviewed p.V197A 1.000 181 0% 95 43.2% 103 50.4% possibly_damaging(0.934) deleterious(0) deleterious(0.825) HMMPfam_Cyclin_N,superfamily_Cyclin_like CDK7 1022 genome.wustl.edu 37 5 68568859 68568859 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001799.3 +1 validated p.T285 0.994 137 0% 69 52.2% 58 44.8% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CCDC125 202243 genome.wustl.edu 37 5 68595879 68595879 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176816.3 -1 validated p.C259Y 0.000 208 0% 116 44.8% 3 33.3% possibly_damaging(0.819) tolerated(0.19) neutral(0.359) NULL MARVELD2 153562 genome.wustl.edu 37 5 68715625 68715625 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001038603.2 +1 validated p.G138E 0.300 54 0% 25 56% 4 25% unknown(0) deleterious(0) - NULL OCLN 100506658 genome.wustl.edu 37 5 68805221 68805221 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002538.2 +1 reviewed p.V102I 0.000 68 1.5% 56 42.9% 14 42.8% benign(0) tolerated(1) - HMMPfam_MARVEL BDP1 55814 genome.wustl.edu 37 5 70800510 70800510 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018429.2 +1 reviewed p.Q768H 0.003 237 0% 107 46.7% 2 50% benign(0.269) deleterious(0.05) neutral(0.374) NULL BDP1 55814 genome.wustl.edu 37 5 70806132 70806132 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018429.2 +1 reviewed p.S1071R 0.001 123 0.8% 65 43.1% 7 42.8% benign(0.315) tolerated(0.09) neutral(0.395) NULL MCCC2 64087 genome.wustl.edu 37 5 70898444 70898444 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022132.4 +1 reviewed p.L165 0.999 90 0% 52 40.4% 48 45.8% - - - HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase MCCC2 64087 genome.wustl.edu 37 5 70952650 70952650 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022132.4 +1 reviewed p.P552L 0.997 330 0% 181 10.5% 59 3.3% possibly_damaging(0.671) deleterious(0) deleterious(0.682) HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase MAP1B 4131 genome.wustl.edu 37 5 71489993 71489993 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005909.3 +1 validated p.D271N 1.000 86 0% 50 58% 9 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MAP1B 4131 genome.wustl.edu 37 5 71492659 71492659 + Silent SNP C C T rs183960902 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005909.3 +1 validated p.F1159 0.823 76 0% 50 40% 8 50% - - - NULL RGNEF 64283 genome.wustl.edu 37 5 73076546 73076546 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080479.2 +1 reviewed p.S296T 0.110 65 0% 38 21.1% 6 33.3% benign(0.004) deleterious(0) neutral(0.445) NULL RGNEF 64283 genome.wustl.edu 37 5 73142209 73142209 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080479.2 +1 reviewed p.D515G 0.988 298 0% 120 46.7% 2 50% probably_damaging(0.963) deleterious(0) deleterious(0.850) NULL HEXB 3074 genome.wustl.edu 37 5 74009438 74009438 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000521.3 +1 reviewed p.G293 0.963 406 0% 176 41.5% 96 42.7% - - - HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases GFM2 84340 genome.wustl.edu 37 5 74021912 74021912 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032380.3 -1 reviewed p.V589A 1.000 198 0% 80 55% 42 52.3% benign(0.004) tolerated(1) - superfamily_Ribosomal protein S5 domain 2-like ANKRD31 256006 genome.wustl.edu 37 5 74400234 74400234 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000274361 -1 known p.S1660Y 0.000 202 0% 81 43.2% 0 - benign(0.086) tolerated(0.56) neutral(0.013) NULL ANKRD31 256006 genome.wustl.edu 37 5 74400590 74400590 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000274361 -1 known p.E1541 0.000 205 0% 93 47.3% 0 - - - - NULL ANKRD31 256006 genome.wustl.edu 37 5 74412447 74412447 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000274361 -1 known p.T1310P 0.002 296 0% 64 48.4% 0 - benign(0) deleterious(0) neutral(0.445) NULL ANKRD31 256006 genome.wustl.edu 37 5 74488558 74488558 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000274361 -1 known p.M448V 0.000 803 0% 192 47.4% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL HMGCR 3156 genome.wustl.edu 37 5 74655336 74655336 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000859.2 +1 reviewed p.T804 0.973 97 0% 58 37.9% 80 57.5% - - - HMMPfam_HMG-CoA_red,PatternScan_HMG_COA_REDUCTASE_2,superfamily_Substrate-binding domain of HMG-CoA reductase HMGCR 3156 genome.wustl.edu 37 5 74655906 74655906 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000859.2 +1 reviewed p.S852P 1.000 135 0% 81 43.2% 57 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HMG-CoA_red,superfamily_Substrate-binding domain of HMG-CoA reductase POLK 51426 genome.wustl.edu 37 5 74880672 74880672 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016218.2 +1 validated p.L383F 1.000 514 0% 206 36.9% 7 71.4% benign(0.164) tolerated(0.13) neutral(0.268) HMMPfam_IMS,superfamily_DNA/RNA polymerases SV2C 22987 genome.wustl.edu 37 5 75505704 75505704 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014979.1 +1 provisional p.P302L 1.000 43 0% 19 42.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter F2RL2 2151 genome.wustl.edu 37 5 75913565 75913565 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004101.2 -1 reviewed p.I323V 0.000 211 0% 126 39.7% 0 - benign(0.004) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like F2RL2 2151 genome.wustl.edu 37 5 75919013 75919013 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004101.2 -1 reviewed p.L15 0.052 140 0% 79 11.4% 0 - - - - NULL S100Z 170591 genome.wustl.edu 37 5 76173610 76173610 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130772.3 +1 validated p.A85T 1.000 257 0% 163 44.8% 0 - benign(0.334) deleterious(0.03) deleterious(0.469) superfamily_EF-hand CRHBP 1393 genome.wustl.edu 37 5 76249029 76249029 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001882.3 +1 reviewed p.R24W 0.996 52 0% 49 57.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CRF-BP AGGF1 55109 genome.wustl.edu 37 5 76335420 76335420 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018046.3 +1 validated p.R249H 1.000 580 0% 315 41% 9 44.4% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL AGGF1 55109 genome.wustl.edu 37 5 76342417 76342417 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018046.3 +1 validated p.E372 1.000 157 0% 109 57.8% 17 52.9% - - - NULL PDE8B 8622 genome.wustl.edu 37 5 76715687 76715687 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003719.2 +1 validated p.S742N 1.000 80 0% 36 52.8% 2 0% possibly_damaging(0.786) tolerated(0.05) deleterious(0.640) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE8B 8622 genome.wustl.edu 37 5 76717755 76717755 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003719.2 +1 validated p.R787H 1.000 107 2.8% 75 49.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like ARSB 411 genome.wustl.edu 37 5 78251141 78251141 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000046.3 -1 reviewed p.N292S 1.000 173 0% 81 39.5% 5 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core DMGDH 29958 genome.wustl.edu 37 5 78293955 78293955 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013391.2 -1 reviewed p.E851K 0.999 718 0.1% 392 49.2% 0 - benign(0.348) deleterious(0.01) deleterious(0.516) superfamily_Aminomethyltransferase beta-barrel domain JMY 133746 genome.wustl.edu 37 5 78612077 78612077 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152405.4 +1 validated p.P972S 1.000 111 0% 44 18.2% 5 60% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL PAPD4 167153 genome.wustl.edu 37 5 78938657 78938657 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114393.1 +1 validated p.C225 0.988 208 0% 50 26% 10 40% - - - superfamily_Nucleotidyltransferase PAPD4 167153 genome.wustl.edu 37 5 78977872 78977872 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114393.1 +1 validated p.D456E 1.000 247 0% 103 40.8% 10 30% benign(0) tolerated(1) - superfamily_PAP/OAS1 substrate-binding domain CMYA5 202333 genome.wustl.edu 37 5 79025319 79025319 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153610.3 +1 validated p.F244C 0.997 95 0% 36 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CMYA5 202333 genome.wustl.edu 37 5 79029422 79029422 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153610.3 +1 validated p.D1612Y 0.004 108 0% 43 41.9% 0 - probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL CMYA5 202333 genome.wustl.edu 37 5 79029941 79029941 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153610.3 +1 validated p.D1785Y 0.000 110 0% 48 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CMYA5 202333 genome.wustl.edu 37 5 79030972 79030972 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153610.3 +1 validated p.I2128M 0.000 99 0% 28 17.9% 0 - possibly_damaging(0.706) deleterious(0.01) deleterious(0.659) NULL CMYA5 202333 genome.wustl.edu 37 5 79031902 79031902 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153610.3 +1 validated p.S2438 0.002 130 0% 26 42.3% 0 - - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79033241 79033241 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153610.3 +1 validated p.L2885M 0.000 74 0% 23 43.5% 0 - benign(0.004) tolerated(0.17) neutral(0.059) NULL CMYA5 202333 genome.wustl.edu 37 5 79086828 79086828 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153610.3 +1 validated p.P3909S 1.000 147 0% 85 49.4% 0 - probably_damaging(0.994) tolerated(0.1) deleterious(0.738) NULL THBS4 7060 genome.wustl.edu 37 5 79335932 79335932 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003248.4 +1 reviewed p.L41 1.000 112 0% 71 12.7% 2 0% - - - HMMSmart_TSPN THBS4 7060 genome.wustl.edu 37 5 79366526 79366526 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003248.4 +1 reviewed p.D505N 1.000 50 0% 24 62.5% 2 50% probably_damaging(0.984) deleterious(0.04) deleterious(0.779) HMMPfam_TSP_3,superfamily_SSF103647 SPZ1 84654 genome.wustl.edu 37 5 79616257 79616257 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032567.3 +1 validated p.E75* 0.358 162 0% 81 42% 0 - - - - NULL SPZ1 84654 genome.wustl.edu 37 5 79616397 79616397 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032567.3 +1 validated p.E121D 0.000 116 0% 72 38.9% 0 - possibly_damaging(0.734) tolerated(0.4) neutral(0.285) NULL MSH3 4437 genome.wustl.edu 37 5 80171602 80171602 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002439.3 +1 reviewed p.T1112M 0.000 229 0% 67 16.4% 13 0% benign(0.008) tolerated(0.19) neutral(0.050) NULL RASGRF2 5924 genome.wustl.edu 37 5 80388707 80388707 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006909.1 +1 validated p.R493I 1.000 220 0% 109 29.4% 1 0% possibly_damaging(0.941) deleterious(0) deleterious(0.831) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like RASGRF2 5924 genome.wustl.edu 37 5 80497244 80497244 + Silent SNP C C T rs189681922 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006909.1 +1 validated p.A963 0.959 112 0% 58 48.3% 1 0% - - - HMMSmart_SM00229,superfamily_Ras GEF ACOT12 134526 genome.wustl.edu 37 5 80681611 80681611 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130767.2 -1 validated p.A54 1.000 162 0% 58 48.3% 0 - - - - HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase SSBP2 23635 genome.wustl.edu 37 5 80770324 80770324 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012446.2 -1 validated p.R164* 0.998 569 0.2% 161 49.1% 12 8.3% - - - HMMPfam_SSDP ATP6AP1L 92270 genome.wustl.edu 37 5 81614039 81614039 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017971.1 +1 provisional p.E199K 0.990 55 1.8% 29 37.9% 4 25% benign(0.002) deleterious(0) neutral(0.445) NULL TMEM167A 153339 genome.wustl.edu 37 5 82360898 82360898 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174909.4 -1 validated p.I14 1.000 170 0% 70 47.1% 64 35.9% - - - HMMPfam_DUF1242 XRCC4 7518 genome.wustl.edu 37 5 82406963 82406963 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022406.2 +1 reviewed p.F86L 0.992 326 0% 139 43.9% 4 50% possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) superfamily_XRCC4 N-terminal domain,HMMPfam_XRCC4 VCAN 1462 genome.wustl.edu 37 5 82786221 82786221 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004385.4 +1 reviewed p.A125 0.068 72 0% 40 40% 23 34.7% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin VCAN 1462 genome.wustl.edu 37 5 82815267 82815267 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004385.4 +1 reviewed p.I381S 0.001 190 0% 93 36.6% 5 20% benign(0.183) deleterious(0) neutral(0.462) NULL VCAN 1462 genome.wustl.edu 37 5 82849249 82849249 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004385.4 +1 reviewed p.R3187Q 0.999 66 0% 24 41.7% 74 36.4% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like HAPLN1 1404 genome.wustl.edu 37 5 82940197 82940197 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001884.3 -1 validated p.T254A 1.000 48 0% 25 52% 7 0% possibly_damaging(0.842) tolerated(0.2) neutral(0.371) HMMSmart_SM00445,superfamily_C-type lectin-like HAPLN1 1404 genome.wustl.edu 37 5 82940284 82940284 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001884.3 -1 validated p.P225S 1.000 51 0% 27 44.4% 9 0% possibly_damaging(0.512) tolerated(0.17) neutral(0.231) HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like HAPLN1 1404 genome.wustl.edu 37 5 82940362 82940362 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001884.3 -1 validated p.R199W 0.853 23 0% 20 60% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like EDIL3 10085 genome.wustl.edu 37 5 83362341 83362341 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005711.3 -1 reviewed p.Y246H 1.000 445 0% 166 45.2% 2 0% possibly_damaging(0.902) deleterious(0) deleterious(0.801) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like TMEM161B 153396 genome.wustl.edu 37 5 87502259 87502259 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153354.3 -1 provisional p.S219F 1.000 87 0% 29 41.4% 7 28.5% possibly_damaging(0.805) deleterious(0.02) deleterious(0.686) HMMPfam_Tmemb_161AB TMEM161B 153396 genome.wustl.edu 37 5 87502869 87502869 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153354.3 -1 provisional p.Y192C 1.000 314 0% 141 36.9% 4 50% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) HMMPfam_Tmemb_161AB MEF2C 4208 genome.wustl.edu 37 5 88027590 88027590 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002397.3 -1 validated p.R256* 1.000 325 0% 101 25.7% 4 0% - - - NULL LYSMD3 116068 genome.wustl.edu 37 5 89814996 89814996 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198273.1 -1 validated p.S187 0.989 545 0% 273 40.7% 13 38.4% - - - NULL GPR98 84059 genome.wustl.edu 37 5 89948377 89948377 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032119.3 +1 reviewed p.S1211P 1.000 179 0.6% 92 50% 1 100% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL GPR98 84059 genome.wustl.edu 37 5 89953750 89953750 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032119.3 +1 reviewed p.G1469 0.011 232 0% 146 44.5% 2 50% - - - superfamily_Concanavalin A-like lectins/glucanases GPR98 84059 genome.wustl.edu 37 5 90072383 90072383 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032119.3 +1 reviewed p.A4173T 1.000 151 0% 55 36.4% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL GPR98 84059 genome.wustl.edu 37 5 90083903 90083903 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032119.3 +1 reviewed p.V4557I 0.000 134 0% 55 56.4% 0 - benign(0.028) tolerated(0.17) neutral(0.060) NULL GPR98 84059 genome.wustl.edu 37 5 90449105 90449105 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032119.3 +1 reviewed p.S6231I 1.000 103 0% 55 38.2% 4 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ARRDC3 57561 genome.wustl.edu 37 5 90670775 90670775 + Silent SNP G G A rs187417675 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020801.2 -1 validated p.L278 0.280 134 0% 73 47.9% 58 50% - - - HMMPfam_Arrestin_C,superfamily_Ig_E-set KIAA0825 285600 genome.wustl.edu 37 5 93489740 93489740 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145678.1 -1 validated p.S1267Y 1.000 917 0.1% 495 11.7% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL KIAA0825 285600 genome.wustl.edu 37 5 93752871 93752871 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000312498 -1 known p.F518L 0.058 132 0% 46 45.7% 0 - possibly_damaging(0.574) deleterious(0) deleterious(0.641) NULL LOC100131573 100131573 genome.wustl.edu 37 5 93928977 93928977 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001716404.1 +1 model p.F186L 0.993 267 0% 77 46.8% 0 - - - - NULL ANKRD32 84250 genome.wustl.edu 37 5 93979004 93979004 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032290.3 +1 validated p.V153A 0.999 189 0% 55 27.3% 2 50% possibly_damaging(0.94) deleterious(0.02) deleterious(0.768) HMMSmart_BRCT ANKRD32 84250 genome.wustl.edu 37 5 94024308 94024308 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032290.3 +1 validated p.S740Y 1.000 242 0% 137 40.9% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MCTP1 79772 genome.wustl.edu 37 5 94204092 94204092 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024717.4 -1 validated p.Y794 1.000 178 0% 35 31.4% 2 0% - - - NULL TTC37 9652 genome.wustl.edu 37 5 94838600 94838600 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014639.2 -1 provisional p.T1109P 1.000 500 0% 227 52.9% 16 37.5% possibly_damaging(0.899) deleterious(0.02) deleterious(0.739) superfamily_Prenyl_trans TTC37 9652 genome.wustl.edu 37 5 94863845 94863845 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014639.2 -1 provisional p.V336I 0.055 156 0% 56 44.6% 7 28.5% benign(0) tolerated(1) - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 ELL2 22936 genome.wustl.edu 37 5 95226836 95226836 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012081.5 -1 validated p.R578C 1.000 284 0% 160 51.9% 4 0% unknown(0) deleterious(0) - HMMPfam_Occludin_ELL ELL2 22936 genome.wustl.edu 37 5 95278738 95278738 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012081.5 -1 validated p.R55* 1.000 169 0% 41 43.9% 3 33.3% - - - HMMPfam_ELL PCSK1 5122 genome.wustl.edu 37 5 95730655 95730655 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000439.4 -1 reviewed p.E599 0.119 279 0.4% 115 41.7% 0 - - - - superfamily_Gal_bind_like PCSK1 5122 genome.wustl.edu 37 5 95734656 95734656 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000439.4 -1 reviewed p.E505 0.997 463 0% 200 38.5% 0 - - - - HMMPfam_P_proprotein,superfamily_Gal_bind_like PCSK1 5122 genome.wustl.edu 37 5 95768707 95768707 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000439.4 -1 reviewed p.V14I 0.993 31 0% 39 43.6% 0 - benign(0) tolerated(0.53) neutral(0.007) NULL CAST 831 genome.wustl.edu 37 5 96065399 96065399 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000512620 +1 known p.S134N 0.775 118 0% 52 63.5% 37 37.8% - - - HMMPfam_Calpain_inhib CAST 831 genome.wustl.edu 37 5 96079388 96079388 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173061.2 +1 reviewed p.D20N 0.000 72 0% 45 48.9% 0 - possibly_damaging(0.946) deleterious(0.02) deleterious(0.773) NULL ERAP1 51752 genome.wustl.edu 37 5 96098915 96098915 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016442.3 -1 validated p.A946T 0.000 107 0% 44 45.5% 1 0% benign(0.111) - - NULL LNPEP 4012 genome.wustl.edu 37 5 96315026 96315026 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005575.2 +1 reviewed p.E68D 1.000 107 0% 39 51.3% 5 60% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL LIX1 167410 genome.wustl.edu 37 5 96430658 96430658 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153234.4 -1 validated p.R215W 0.989 75 0% 45 44.4% 0 - possibly_damaging(0.438) deleterious(0.01) deleterious(0.548) NULL LIX1 167410 genome.wustl.edu 37 5 96478219 96478219 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153234.4 -1 validated p.P21L 0.997 159 0% 66 31.8% 0 - probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL RIOK2 55781 genome.wustl.edu 37 5 96500718 96500718 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000511012 -1 known p.Y129 0.004 192 0% 80 42.5% 0 - unknown(0) - - NULL RIOK2 55781 genome.wustl.edu 37 5 96503207 96503207 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000511293 -1 known p.C25* 1.000 127 0% 54 55.6% 24 37.5% benign(0.001) tolerated(0.91) - NULL RGMB 285704 genome.wustl.edu 37 5 98115324 98115324 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012761.2 +1 validated p.C100 0.945 43 0% 14 35.7% 14 14.2% - - - HMMPfam_RGM_N RGMB 285704 genome.wustl.edu 37 5 98128881 98128881 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012761.2 +1 validated p.G287 1.000 39 0% 37 37.8% 19 63.1% - - - HMMPfam_RGM_C RGMB 285704 genome.wustl.edu 37 5 98129337 98129337 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012761.2 +1 validated p.L439 1.000 260 0% 167 21% 42 23.8% - - - HMMPfam_RGM_C ST8SIA4 7903 genome.wustl.edu 37 5 100147553 100147553 + Nonstop_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005668.4 -1 reviewed p.*360Q 1.000 570 0% 267 43.4% 1 0% - - - NULL SLCO4C1 353189 genome.wustl.edu 37 5 101627259 101627259 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_180991.4 -1 validated p.R136H 1.000 103 0% 62 46.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter PAM 5066 genome.wustl.edu 37 5 102203053 102203053 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000919.3 +1 reviewed p.D56Y 1.000 317 0% 182 37.9% 57 40.3% unknown(0) deleterious(0) - HMMPfam_Cu2_monooxygen,superfamily_PHM_PNGase_F PAM 5066 genome.wustl.edu 37 5 102345530 102345530 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000919.3 +1 reviewed p.S764F 0.992 254 0% 72 29.2% 122 45.9% possibly_damaging(0.63) deleterious(0.01) deleterious(0.626) superfamily_SSF101898 GIN1 54826 genome.wustl.edu 37 5 102432434 102432434 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017676.2 -1 validated p.E369K 1.000 461 0% 168 38.7% 2 0% probably_damaging(0.99) tolerated(0.29) deleterious(0.471) NULL GIN1 54826 genome.wustl.edu 37 5 102440298 102440298 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017676.2 -1 validated p.Y196H 1.000 230 0% 76 44.7% 1 100% possibly_damaging(0.64) deleterious(0) deleterious(0.668) HMMPfam_rve,superfamily_Ribonuclease H-like GIN1 54826 genome.wustl.edu 37 5 102444330 102444330 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017676.2 -1 validated p.T28A 1.000 456 0.2% 176 40.9% 4 50% unknown(0) deleterious(0) - NULL PPIP5K2 23262 genome.wustl.edu 37 5 102487021 102487021 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015216.2 +1 provisional p.G324D 1.000 340 0% 133 37.6% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF56059 EFNA5 1946 genome.wustl.edu 37 5 106716956 106716956 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001962.2 -1 reviewed p.*229 1.000 100 0% 48 52.1% 39 51.2% - - - NULL EFNA5 1946 genome.wustl.edu 37 5 107006205 107006205 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001962.2 -1 reviewed p.N37S 1.000 16 0% 34 47.1% 14 64.2% possibly_damaging(0.51) deleterious(0.04) deleterious(0.520) HMMPfam_Ephrin,superfamily_Cupredoxin FBXL17 64839 genome.wustl.edu 37 5 107559870 107559870 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000496714 -1 known p.G124 1.000 180 0% 57 26.3% 9 44.4% - - - superfamily_SSF52047 FER 2241 genome.wustl.edu 37 5 108168528 108168528 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005246.2 +1 reviewed p.A89T 1.000 199 0% 90 43.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FCH,HMMSmart_SM00055 FER 2241 genome.wustl.edu 37 5 108171463 108171463 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005246.2 +1 reviewed p.E146* 1.000 246 0% 65 44.6% 1 0% - - - NULL FER 2241 genome.wustl.edu 37 5 108382829 108382829 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005246.2 +1 reviewed p.P618 0.989 274 0% 100 43% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) FER 2241 genome.wustl.edu 37 5 108521923 108521923 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005246.2 +1 reviewed p.D742 0.980 238 0% 155 46.5% 7 14.2% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PJA2 9867 genome.wustl.edu 37 5 108698637 108698637 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014819.4 -1 validated p.P519H 0.901 279 0% 170 41.8% 40 42.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PJA2 9867 genome.wustl.edu 37 5 108714806 108714806 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014819.4 -1 validated p.G128S 0.998 129 0% 55 32.7% 40 27.5% possibly_damaging(0.586) tolerated(0.56) neutral(0.209) NULL MAN2A1 4124 genome.wustl.edu 37 5 109190857 109190857 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002372.2 +1 reviewed p.S998L 0.136 232 0.9% 51 51% 10 50% benign(0) tolerated(0.08) neutral(0.300) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C WDR36 134430 genome.wustl.edu 37 5 110439559 110439559 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139281.2 +1 reviewed p.E280D 1.000 213 0% 56 39.3% 7 57.1% possibly_damaging(0.719) deleterious(0.02) deleterious(0.643) superfamily_Amine_DH_B_like,superfamily_WD40_like STARD4 134429 genome.wustl.edu 37 5 110835763 110835763 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139164.1 -1 provisional p.R147* 1.000 126 0% 56 35.7% 2 50% - - - HMMPfam_START,superfamily_SSF55961 EPB41L4A 64097 genome.wustl.edu 37 5 111500755 111500755 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022140.3 -1 validated p.L665M 0.697 714 0% 357 18.8% 7 14.2% benign(0.012) tolerated(0.25) neutral(0.037) NULL EPB41L4A 64097 genome.wustl.edu 37 5 111504467 111504467 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022140.3 -1 validated p.A634V 1.000 257 0% 130 38.5% 6 66.6% benign(0) tolerated(0.22) neutral(0.042) NULL EPB41L4A 64097 genome.wustl.edu 37 5 111519799 111519799 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022140.3 -1 validated p.A512 0.528 145 0.7% 104 51.9% 3 33.3% - - - NULL EPB41L4A 64097 genome.wustl.edu 37 5 111615981 111615981 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022140.3 -1 validated p.E82* 1.000 377 0% 110 46.4% 4 75% - - - HMMPfam_FERM_N,PatternScan_FERM_1,HMMSmart_SM00295,superfamily_Ubiquitin-like APC 324 genome.wustl.edu 37 5 112116551 112116551 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000038.4 +1 reviewed p.A199V 1.000 239 0% 104 48.1% 4 50% probably_damaging(0.997) tolerated(1) neutral(0.466) superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112151223 112151223 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000038.4 +1 reviewed p.A289V 1.000 128 0% 34 41.2% 5 40% possibly_damaging(0.648) deleterious(0.02) deleterious(0.611) superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112175587 112175587 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000038.4 +1 reviewed p.P1432 0.995 135 0% 45 51.1% 4 50% - - - NULL APC 324 genome.wustl.edu 37 5 112176966 112176966 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000038.4 +1 reviewed p.A1892V 1.000 244 0% 129 48.8% 6 50% benign(0.013) tolerated(0.08) neutral(0.300) NULL ZRSR1 7310 genome.wustl.edu 37 5 112227802 112227802 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000391338 +1 known p.T156A 0.806 342 0% 246 45.1% 0 - benign(0.055) tolerated(0.85) neutral(0.004) NULL DCP2 167227 genome.wustl.edu 37 5 112337129 112337129 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152624.4 +1 validated p.A221T 1.000 371 0% 138 23.9% 10 20% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) superfamily_Nudix MCC 4163 genome.wustl.edu 37 5 112403858 112403858 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001085377.1 -1 reviewed p.E650K 1.000 20 0% 16 43.8% 12 50% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_MCC-bdg_PDZ TRIM36 55521 genome.wustl.edu 37 5 114462325 114462325 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018700.3 -1 reviewed p.L688I 1.000 261 0% 170 13.5% 2 0% probably_damaging(0.991) tolerated(0.24) deleterious(0.481) NULL TRIM36 55521 genome.wustl.edu 37 5 114482894 114482894 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018700.3 -1 reviewed p.E166* 1.000 282 0% 139 53.2% 1 100% - - - superfamily_RING/U-box CCDC112 153733 genome.wustl.edu 37 5 114607290 114607290 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040440.2 -1 validated p.K318Q 1.000 657 0% 291 44% 3 33.3% benign(0.122) tolerated(0.18) neutral(0.066) NULL CCDC112 153733 genome.wustl.edu 37 5 114611039 114611039 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040440.2 -1 validated p.K264 0.994 263 0% 96 39.6% 7 42.8% - - - NULL CCDC112 153733 genome.wustl.edu 37 5 114611715 114611715 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040440.2 -1 validated p.T168N 1.000 505 0% 155 40% 3 66.6% probably_damaging(0.962) tolerated(0.39) neutral(0.421) NULL TMED7 51014 genome.wustl.edu 37 5 114956332 114956332 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181836.5 -1 validated p.P80S 1.000 302 0% 122 42.6% 73 41% probably_damaging(0.98) deleterious(0.02) deleterious(0.807) HMMPfam_EMP24_GP25L,superfamily_SSF101576 CDO1 1036 genome.wustl.edu 37 5 115152060 115152060 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001801.2 -1 validated p.L12P 1.000 14 0% 24 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CDO_I AQPEP 206338 genome.wustl.edu 37 5 115346441 115346441 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173800.4 +1 validated p.N699 0.970 370 0% 122 41% 0 - - - - NULL DTWD2 285605 genome.wustl.edu 37 5 118274912 118274912 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173666.2 -1 validated p.G128D 1.000 257 0% 119 38.7% 7 28.5% probably_damaging(0.988) tolerated(0.06) deleterious(0.760) HMMPfam_DTW DMXL1 1657 genome.wustl.edu 37 5 118484933 118484933 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005509.4 +1 validated p.K1137N 1.000 119 0% 38 55.3% 0 - possibly_damaging(0.555) deleterious(0.01) deleterious(0.595) NULL DMXL1 1657 genome.wustl.edu 37 5 118505963 118505963 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005509.4 +1 validated p.R1826H 1.000 161 0% 66 39.4% 4 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL DMXL1 1657 genome.wustl.edu 37 5 118513838 118513838 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005509.4 +1 validated p.R2345Q 1.000 67 0% 29 37.9% 6 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DMXL1 1657 genome.wustl.edu 37 5 118533578 118533578 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005509.4 +1 validated p.E2558K 1.000 256 0.4% 96 46.9% 6 50% benign(0.119) deleterious(0.02) neutral(0.393) superfamily_WD40 repeat-like FTMT 94033 genome.wustl.edu 37 5 121187904 121187904 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177478.1 +1 validated p.R82 1.000 13 0.000 7 0.571 0 - - - - HMMPfam_Ferritin,superfamily_Ferritin/RR_like LOX 4015 genome.wustl.edu 37 5 121405794 121405794 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002317.5 -1 reviewed p.R401C 1.000 83 0% 33 45.5% 77 44.1% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Lysyl_oxidase SNCAIP 9627 genome.wustl.edu 37 5 121787059 121787059 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005460.2 +1 reviewed p.D839 0.000 68 0% 22 31.8% 9 55.5% - - - NULL SNX2 6643 genome.wustl.edu 37 5 122152708 122152708 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003100.2 +1 reviewed p.M299I 1.000 82 0% 55 36.4% 70 51.4% possibly_damaging(0.493) tolerated(0.06) deleterious(0.487) HMMPfam_Vps5 CEP120 153241 genome.wustl.edu 37 5 122748094 122748094 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153223.3 -1 reviewed p.K154N 1.000 357 0% 241 50.6% 3 33.3% benign(0.029) tolerated(0.47) neutral(0.012) NULL CSNK1G3 1456 genome.wustl.edu 37 5 122881476 122881476 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001044723.1 +1 validated p.G40E 1.000 188 0% 64 40.6% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like ZNF608 57507 genome.wustl.edu 37 5 123984142 123984142 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020747.2 -1 validated p.S645 0.993 111 0% 89 43.8% 1 0% - - - NULL MEGF10 84466 genome.wustl.edu 37 5 126676320 126676320 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032446.2 +1 validated p.V106G 1.000 291 0% 81 37% 1 100% possibly_damaging(0.799) deleterious(0) deleterious(0.746) superfamily_EGF/Laminin PRRC1 133619 genome.wustl.edu 37 5 126874755 126874755 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130809.3 +1 validated p.S315 0.999 193 0% 109 46.8% 61 45.9% - - - superfamily_Maf/Ham1 SLC12A2 6558 genome.wustl.edu 37 5 127514267 127514267 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001046.2 +1 validated p.G996C 1.000 369 0.3% 138 13.8% 69 18.8% benign(0.394) deleterious(0.02) deleterious(0.510) NULL FBN2 2201 genome.wustl.edu 37 5 127595480 127595480 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001999.3 -1 reviewed p.P2802 0.001 74 1.4% 44 50% 108 54.6% - - - NULL FBN2 2201 genome.wustl.edu 37 5 127636612 127636612 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001999.3 -1 reviewed p.V2021 0.943 76 0% 42 28.6% 32 34.3% - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN2 2201 genome.wustl.edu 37 5 127713562 127713562 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001999.3 -1 reviewed p.E578K 1.000 163 0% 40 40% 24 25% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin SLC27A6 28965 genome.wustl.edu 37 5 128359355 128359355 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017372.1 +1 reviewed p.D403Y 1.000 279 0% 57 49.1% 1 0% benign(0.011) tolerated(0.18) neutral(0.057) HMMPfam_AMP-binding,superfamily_SSF56801 ISOC1 51015 genome.wustl.edu 37 5 128440924 128440924 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016048.2 +1 validated p.Q159P 1.000 434 0% 189 45% 33 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Isochorismatase,superfamily_Iscrsm_hydrolase ADAMTS19 171019 genome.wustl.edu 37 5 128983478 128983478 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133638.3 +1 reviewed p.C625 1.000 63 0% 42 38.1% 9 55.5% - - - HMMSmart_SM00608 ADAMTS19 171019 genome.wustl.edu 37 5 129070797 129070797 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133638.3 +1 reviewed p.R1156K 1.000 113 0% 32 37.5% 6 33.3% probably_damaging(0.995) tolerated(0.13) deleterious(0.710) NULL CHSY3 337876 genome.wustl.edu 37 5 129519976 129519976 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175856.4 +1 validated p.D381Y 1.000 76 0% 36 47.2% 1 0% probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_CHGN CHSY3 337876 genome.wustl.edu 37 5 129520286 129520286 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175856.4 +1 validated p.R484L 1.000 47 0% 21 28.6% 1 100% possibly_damaging(0.883) deleterious(0.01) deleterious(0.750) HMMPfam_CHGN HINT1 3094 genome.wustl.edu 37 5 130498168 130498168 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508488 -1 known p.V73 0.000 79 0% 71 49.3% 3 33.3% - - - HMMPfam_HIT,superfamily_HIT-like FNIP1 96459 genome.wustl.edu 37 5 131007866 131007866 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133372.2 -1 validated p.D757E 1.000 251 0% 110 48.2% 9 44.4% possibly_damaging(0.602) tolerated(0.81) neutral(0.209) NULL FNIP1 96459 genome.wustl.edu 37 5 131080378 131080378 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133372.2 -1 validated p.P33H 1.000 264 0% 105 38.1% 2 50% possibly_damaging(0.78) deleterious(0.02) deleterious(0.674) NULL ACSL6 23305 genome.wustl.edu 37 5 131307307 131307307 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009185.1 -1 validated p.V457A 1.000 33 0% 26 57.7% 0 - benign(0.127) tolerated(0.08) neutral(0.310) HMMPfam_AMP-binding,superfamily_SSF56801 ACSL6 23305 genome.wustl.edu 37 5 131309043 131309043 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009185.1 -1 validated p.I373 1.000 39 0% 21 42.9% 0 - - - - HMMPfam_AMP-binding,superfamily_SSF56801 P4HA2 8974 genome.wustl.edu 37 5 131543569 131543569 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142599.1 -1 reviewed p.R304 0.933 74 0% 51 45.1% 24 37.5% - - - NULL IRF1 3659 genome.wustl.edu 37 5 131821943 131821943 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002198.2 -1 reviewed p.A223P 1.000 15 0% 14 50% 15 0% possibly_damaging(0.893) tolerated(0.14) deleterious(0.601) NULL RAD50 10111 genome.wustl.edu 37 5 131931411 131931411 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005732.3 +1 reviewed p.R706* 1.000 79 0% 24 41.7% 8 12.5% - - - HMMPfam_SMC_N,HMMPfam_Rad50_zn_hook,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD50 10111 genome.wustl.edu 37 5 131940623 131940623 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005732.3 +1 reviewed p.R884C 0.997 215 0% 82 42.7% 6 66.6% possibly_damaging(0.682) deleterious(0.02) deleterious(0.626) HMMPfam_SMC_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD50 10111 genome.wustl.edu 37 5 131953803 131953803 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005732.3 +1 reviewed p.R1069I 1.000 266 0% 140 45.7% 3 100% possibly_damaging(0.627) deleterious(0.02) deleterious(0.602) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF3A 11127 genome.wustl.edu 37 5 132038594 132038594 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007054.5 -1 validated p.E517* 1.000 471 0% 244 45.9% 6 33.3% - - - NULL UQCRQ 27089 genome.wustl.edu 37 5 132203231 132203231 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014402.4 +1 reviewed p.R69I 0.816 429 0% 264 50% 869 43.6% possibly_damaging(0.509) tolerated(0.08) deleterious(0.471) HMMPfam_UcrQ,superfamily_UcrQ AFF4 27125 genome.wustl.edu 37 5 132232025 132232025 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014423.3 -1 validated p.R766M 1.000 207 0% 117 40.2% 17 29.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_AF-4 HSPA4 3308 genome.wustl.edu 37 5 132409801 132409801 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002154.3 +1 validated p.N216D 1.000 201 0% 86 37.2% 36 11.1% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_HSP70,superfamily_SSF53067 HSPA4 3308 genome.wustl.edu 37 5 132431913 132431913 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002154.3 +1 validated p.E592* 1.000 174 0% 85 40% 83 1.2% - - - HMMPfam_HSP70,superfamily_SSF100920 TCF7 6932 genome.wustl.edu 37 5 133478506 133478506 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003202.3 +1 validated p.R284G 0.960 57 0% 46 37% 16 37.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box SAR1B 51128 genome.wustl.edu 37 5 133942678 133942678 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033503.2 -1 reviewed p.G187R 1.000 182 0% 107 37.4% 91 36.2% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMSmart_SAR,PatternScan_SAR1,HMMPfam_Arf,superfamily_SSF52540 SAR1B 51128 genome.wustl.edu 37 5 133942748 133942748 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033503.2 -1 reviewed p.I163M 0.216 176 0% 85 45.9% 63 50.7% benign(0.177) deleterious(0.03) neutral(0.381) HMMSmart_SAR,HMMPfam_Arf,superfamily_SSF52540 SEC24A 10802 genome.wustl.edu 37 5 133997231 133997231 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021982.1 +1 validated p.V174I 1.000 200 0% 90 46.7% 17 47% benign(0.002) deleterious(0.04) neutral(0.349) NULL DDX46 9879 genome.wustl.edu 37 5 134099692 134099692 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014829.2 +1 reviewed p.R39Q 1.000 122 0% 86 44.2% 22 50% unknown(0) tolerated(0.35) - NULL DDX46 9879 genome.wustl.edu 37 5 134117647 134117647 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014829.2 +1 reviewed p.A306T 1.000 207 0% 58 32.8% 20 50% benign(0.002) tolerated(0.74) neutral(0.002) superfamily_SSF52540 H2AFY 9555 genome.wustl.edu 37 5 134696262 134696262 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138610.2 -1 reviewed p.A171 0.954 21 0% 28 53.6% 250 50.4% - - - NULL NEUROG1 4762 genome.wustl.edu 37 5 134870742 134870742 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006161.2 -1 validated p.G213 0.111 62 0% 57 45.6% 0 - - - - NULL LOC153328 153328 genome.wustl.edu 37 5 135188504 135188504 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145282.4 +1 validated p.R139W 0.936 15 0.000 9 0.556 4 25% possibly_damaging(0.747) deleterious(0.03) deleterious(0.639) superfamily_Mitoch_carrier SMAD5 4090 genome.wustl.edu 37 5 135499039 135499039 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398807 +1 known p.N245T 0.999 339 0% 133 39.1% 16 56.2% benign(0) tolerated(0.47) neutral(0.011) superfamily_SMAD/FHA domain TRPC7 57113 genome.wustl.edu 37 5 135610445 135610445 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000378459 -1 known p.R287C 0.997 84 0% 38 50% 0 - - - - NULL KLHL3 26249 genome.wustl.edu 37 5 137056182 137056182 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017415.2 -1 validated p.A36T 1.000 91 0% 43 32.6% 4 50% possibly_damaging(0.61) tolerated(0.75) neutral(0.213) superfamily_POZ domain BRD8 10902 genome.wustl.edu 37 5 137476545 137476545 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139199.1 -1 reviewed p.R1155I 1.000 108 0.9% 73 49.3% 0 - possibly_damaging(0.432) deleterious(0) deleterious(0.585) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain BRD8 10902 genome.wustl.edu 37 5 137481533 137481533 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139199.1 -1 reviewed p.H1105N 1.000 127 0% 61 57.4% 0 - benign(0.029) tolerated(0.27) neutral(0.035) HMMSmart_SM00297,superfamily_Bromodomain BRD8 10902 genome.wustl.edu 37 5 137485341 137485341 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139199.1 -1 reviewed p.T1089I 0.942 98 0% 63 15.9% 0 - possibly_damaging(0.789) tolerated(0.06) deleterious(0.619) superfamily_Bromodomain KIF20A 10112 genome.wustl.edu 37 5 137521300 137521300 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005733.2 +1 validated p.R676W 0.999 48 0% 16 56.2% 38 31.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL CDC25C 995 genome.wustl.edu 37 5 137621497 137621497 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001790.3 -1 reviewed p.H436Y 1.000 53 0% 43 23.3% 12 33.3% possibly_damaging(0.942) tolerated(0.33) neutral(0.411) superfamily_Rhodanese/Cell cycle control phosphatase ETF1 2107 genome.wustl.edu 37 5 137854380 137854380 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004730.2 -1 validated e2+1 1.000 266 0% 137 43.1% 1 100% - - - - LRRTM2 26045 genome.wustl.edu 37 5 138209551 138209551 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015564.2 -1 validated p.T233 0.511 130 0% 68 36.8% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like MATR3 9782 genome.wustl.edu 37 5 138643718 138643718 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018834.4 +1 reviewed p.G205E 1.000 296 0% 118 19.5% 87 22.9% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MATR3 9782 genome.wustl.edu 37 5 138661066 138661066 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000394800 +1 known p.R744C 1.000 36 0% 26 26.9% 7 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MZB1 51237 genome.wustl.edu 37 5 138724248 138724248 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016459.3 -1 validated p.E68D 1.000 35 0% 37 35.1% 6 0% probably_damaging(0.999) tolerated(0.38) deleterious(0.508) NULL SPATA24 202051 genome.wustl.edu 37 5 138737701 138737701 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194296.1 -1 validated p.L73I 1.000 114 0% 88 48.9% 3 100% probably_damaging(0.955) tolerated(0.26) neutral(0.432) NULL TMEM173 340061 genome.wustl.edu 37 5 138858024 138858024 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198282.2 -1 validated p.R197Q 0.955 46 0% 53 37.7% 19 68.4% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL TMEM173 340061 genome.wustl.edu 37 5 138860463 138860463 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198282.2 -1 validated p.I144 0.997 27 0% 27 48.1% 21 42.8% - - - NULL NRG2 9542 genome.wustl.edu 37 5 139267068 139267068 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000378238 -1 known p.E103* 1.000 61 0% 68 17.6% 3 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PCDHA1 56147 genome.wustl.edu 37 5 140167581 140167581 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018900.2 +1 reviewed p.R569Q 0.000 18 0% 27 59.3% 3 66.6% benign(0.007) tolerated(0.3) neutral(0.029) superfamily_Cadherin-like PCDHA2 56146 genome.wustl.edu 37 5 140176250 140176250 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018905.2 +1 reviewed p.A567 0.302 44 0% 31 54.8% 3 33.3% - - - superfamily_Cadherin-like PCDHA4 56144 genome.wustl.edu 37 5 140187546 140187546 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018907.2 +1 reviewed p.G258 0.902 97 0% 54 42.6% 1 100% - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA4 56144 genome.wustl.edu 37 5 140188315 140188315 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018907.2 +1 reviewed p.G515S 1.000 6 0.000 9 0.444 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140202004 140202004 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018908.2 +1 reviewed p.D215A 1.000 182 0% 91 48.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140202812 140202812 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018908.2 +1 reviewed p.Q484H 0.492 10 0% 18 38.9% 1 100% benign(0.014) tolerated(0.09) neutral(0.297) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140203361 140203361 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018908.2 +1 reviewed p.S667 0.573 11 0% 11 36.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140209851 140209851 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018909.2 +1 reviewed p.A725 0.001 9 0.000 15 0.600 5 20% - - - NULL PCDHA7 56141 genome.wustl.edu 37 5 140216143 140216143 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018910.2 +1 reviewed p.A725 0.000 26 0% 33 54.5% 2 50% - - - NULL PCDHA8 56140 genome.wustl.edu 37 5 140221695 140221695 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018911.2 +1 reviewed p.K263N 0.004 79 0% 57 22.8% 0 - benign(0) tolerated(0.05) neutral(0.345) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140229204 140229204 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031857.1 +1 reviewed p.I375T 0.000 82 0% 66 43.9% 0 - benign(0) tolerated(0.67) neutral(0.003) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140229446 140229446 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031857.1 +1 reviewed p.A456T 0.023 8 0.000 24 0.333 0 - benign(0.004) tolerated(0.33) neutral(0.024) superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140230284 140230284 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031857.1 +1 reviewed p.G735D 0.163 26 0% 28 50% 1 0% benign(0.019) deleterious(0.04) neutral(0.350) NULL PCDHA10 56139 genome.wustl.edu 37 5 140235991 140235991 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018901.2 +1 reviewed p.V120M 1.000 56 0% 58 32.8% 2 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA10 56139 genome.wustl.edu 37 5 140236098 140236098 + Silent SNP C C T rs17844340 byCluster;byFrequency TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018901.2 +1 reviewed p.G155 0.964 85 0% 71 36.6% 3 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA10 56139 genome.wustl.edu 37 5 140237293 140237293 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018901.2 +1 reviewed p.V554M 1.000 24 0% 19 52.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140263386 140263386 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018904.2 +1 reviewed p.H511 1.000 5 0.000 14 0.643 1 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140307051 140307051 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018898.3 +1 reviewed p.D192Y 1.000 12 0% 12 33.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140307608 140307608 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018898.3 +1 reviewed p.C377 0.061 95 0% 81 23.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB1 29930 genome.wustl.edu 37 5 140433222 140433222 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013340.2 +1 reviewed p.K723Q 0.508 298 0% 120 38.3% 0 - possibly_damaging(0.919) tolerated(0.32) neutral(0.394) NULL PCDHB1 29930 genome.wustl.edu 37 5 140433348 140433348 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013340.2 +1 reviewed p.N765D 0.036 168 0% 106 46.2% 0 - benign(0.08) tolerated(0.08) neutral(0.305) NULL ENSG00000248756 0 genome.wustl.edu 37 5 140474266 140474266 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000510498 -1 novel NULL 0.000 17 0% 14 35.7% 11 54.5% - - - - PCDHB2 56133 genome.wustl.edu 37 5 140475962 140475962 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018936.2 +1 reviewed p.E530K 0.970 16 0% 15 40% 20 65% benign(0.016) tolerated(0.21) neutral(0.044) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB3 56132 genome.wustl.edu 37 5 140481365 140481365 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018937.2 +1 reviewed p.N378D 1.000 96 0% 68 41.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB4 56131 genome.wustl.edu 37 5 140503158 140503158 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018938.2 +1 reviewed p.F526 0.894 21 0% 15 40% 2 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB5 26167 genome.wustl.edu 37 5 140515315 140515315 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015669.2 +1 reviewed p.E100G 0.300 59 0% 69 47.8% 1 0% benign(0.047) tolerated(0.07) neutral(0.322) HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB17 54661 genome.wustl.edu 37 5 140536978 140536978 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_001280.1 +1 provisional NULL 1.000 29 0% 32 31.2% 2 0% possibly_damaging(0.843) deleterious(0) deleterious(0.768) - PCDHB7 56129 genome.wustl.edu 37 5 140553608 140553608 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018940.2 +1 reviewed p.E398K 0.014 63 0% 48 50% 7 14.2% benign(0.001) tolerated(0.83) neutral(0.001) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB16 57717 genome.wustl.edu 37 5 140563062 140563062 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020957.1 +1 reviewed p.E310K 1.000 92 0% 51 45.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140563116 140563116 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020957.1 +1 reviewed p.S328P 0.151 98 0% 57 38.6% 7 57.1% benign(0.053) tolerated(0.06) neutral(0.326) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140579497 140579497 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018931.2 +1 reviewed p.K50N 0.987 89 0% 97 49.5% 2 0% possibly_damaging(0.893) deleterious(0.04) deleterious(0.701) HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140588661 140588661 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018932.3 +1 reviewed p.S61L 0.000 143 0% 118 45.8% 1 0% benign(0.103) deleterious(0.03) neutral(0.372) HMMSmart_CA,HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140589455 140589455 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018932.3 +1 reviewed p.G326* 0.998 147 0% 101 20.8% 1 100% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140589869 140589869 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018932.3 +1 reviewed p.N464D 1.000 39 0% 37 48.6% 3 66.6% benign(0.402) deleterious(0) deleterious(0.574) HMMPfam_Cadherin,superfamily_Cadherin PCDHB13 56123 genome.wustl.edu 37 5 140595021 140595021 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018933.2 +1 reviewed p.A442 0.454 62 0% 63 57.1% 3 0% - - - HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin ENSG00000250800 0 genome.wustl.edu 37 5 140596145 140596145 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000507840 -1 novel NULL 0.000 57 0% 52 48.1% 3 66.6% - - - - PCDHB14 56122 genome.wustl.edu 37 5 140603207 140603207 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018934.2 +1 reviewed p.F44V 0.949 145 0% 123 56.1% 4 25% benign(0.018) tolerated(0.07) neutral(0.320) HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB18 54660 genome.wustl.edu 37 5 140615575 140615575 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000274705 +1 known p.N430 0.997 25 0% 25 32% 4 50% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGA1 56114 genome.wustl.edu 37 5 140712357 140712357 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018912.2 +1 reviewed p.C702 0.802 23 0% 30 46.7% 1 0% - - - NULL PCDHGA3 56112 genome.wustl.edu 37 5 140723798 140723798 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018916.3 +1 reviewed p.I66 0.964 24 0% 23 56.5% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140724582 140724582 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018916.3 +1 reviewed p.L328I 0.000 64 0% 77 41.6% 0 - benign(0.141) tolerated(0.44) neutral(0.025) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140725753 140725753 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018916.3 +1 reviewed p.R718H 0.623 30 0% 47 40.4% 0 - benign(0.075) tolerated(0.14) neutral(0.255) NULL PCDHGB1 56104 genome.wustl.edu 37 5 140732115 140732115 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018922.2 +1 reviewed p.S763Y 1.000 113 0% 82 45.1% 4 50% benign(0) tolerated(0.62) neutral(0.004) NULL PCDHGB2 56103 genome.wustl.edu 37 5 140739704 140739704 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018923.2 +1 reviewed p.M1T 0.985 39 0% 41 43.9% 4 50% possibly_damaging(0.55) deleterious(0) deleterious(0.631) NULL PCDHGA5 56110 genome.wustl.edu 37 5 140744906 140744906 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018918.2 +1 reviewed p.V337L 0.988 62 0% 66 50% 2 0% benign(0.216) tolerated(0.1) neutral(0.307) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140745437 140745437 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018918.2 +1 reviewed p.L514 0.229 59 0% 59 10.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140745946 140745946 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018918.2 +1 reviewed p.D683 0.000 19 0% 16 31.2% 2 50% - - - NULL PCDHGB3 56102 genome.wustl.edu 37 5 140750061 140750061 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018924.2 +1 reviewed p.R34C 0.988 32 0% 41 31.7% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140752193 140752193 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018924.2 +1 reviewed p.S744 0.000 139 0% 99 46.5% 1 0% - - - NULL PCDHGA6 56109 genome.wustl.edu 37 5 140754561 140754561 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018919.2 +1 reviewed p.S304F 0.000 60 0% 55 56.4% 0 - benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140762760 140762760 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018920.2 +1 reviewed p.Q98H 0.071 34 0% 23 17.4% 1 0% possibly_damaging(0.945) deleterious(0.02) deleterious(0.772) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140763846 140763846 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018920.2 +1 reviewed p.Y460 0.000 109 0% 88 38.6% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140773793 140773793 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032088.1 +1 reviewed p.I471 1.000 44 0% 29 55.2% 1 0% - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140774459 140774459 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032088.1 +1 reviewed p.L693 0.972 17 0% 25 52% 0 - - - - NULL PCDHGB5 56101 genome.wustl.edu 37 5 140778846 140778846 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018925.2 +1 reviewed p.G384 0.000 181 0% 140 40.7% 4 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140793360 140793360 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018913.2 +1 reviewed p.R206 0.003 13 0% 12 58.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140793564 140793564 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018913.2 +1 reviewed p.D274 0.982 38 0% 23 43.5% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140797886 140797886 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018927.2 +1 reviewed p.L154I 0.756 213 0% 171 45.6% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140801033 140801033 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018914.2 +1 reviewed p.P80L 0.000 15 0% 28 32.1% 0 - benign(0.001) tolerated(0.7) neutral(0.002) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140801451 140801451 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018914.2 +1 reviewed p.G219 0.972 19 0% 13 38.5% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140801969 140801969 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018914.2 +1 reviewed p.P392H 1.000 118 0% 48 39.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140803070 140803070 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018914.2 +1 reviewed p.S759Y 0.168 70 0% 66 33.3% 1 0% probably_damaging(0.999) tolerated(0.44) deleterious(0.503) NULL PCDHGA12 26025 genome.wustl.edu 37 5 140811003 140811003 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003735.2 +1 reviewed p.A226V 0.003 13 0.000 9 0.667 2 100% benign(0.001) tolerated(0.67) neutral(0.003) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140811488 140811488 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003735.2 +1 reviewed p.G388R 0.002 65 0% 30 36.7% 0 - benign(0) tolerated(0.5) neutral(0.010) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140812036 140812036 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003735.2 +1 reviewed p.D570 0.002 15 0% 19 47.4% 0 - - - - superfamily_Cadherin-like PCDHGC3 5098 genome.wustl.edu 37 5 140857144 140857144 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002588.2 +1 reviewed p.P487 0.030 103 0% 106 47.2% 2 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC4 56098 genome.wustl.edu 37 5 140865292 140865292 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018928.2 +1 reviewed p.K184 1.000 19 0% 10 40% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140869456 140869456 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018929.2 +1 reviewed p.G217R 1.000 33 0% 22 40.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140870688 140870688 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018929.2 +1 reviewed p.E627D 1.000 26 0% 30 53.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DIAPH1 1729 genome.wustl.edu 37 5 140962803 140962803 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005219.4 -1 reviewed p.R197Q 1.000 149 0% 72 47.2% 35 57.1% probably_damaging(0.978) tolerated(0.18) deleterious(0.476) HMMPfam_Drf_GBD HDAC3 8841 genome.wustl.edu 37 5 141009646 141009646 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003883.3 -1 reviewed p.A110T 0.998 74 0% 50 52% 34 17.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase HDAC3 8841 genome.wustl.edu 37 5 141014391 141014391 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003883.3 -1 reviewed p.V90I 1.000 62 0% 50 36% 34 58.8% benign(0) tolerated(0.29) neutral(0.029) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase PCDH12 51294 genome.wustl.edu 37 5 141335739 141335739 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016580.2 -1 reviewed p.D560Y 1.000 13 0% 19 47.4% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin NR3C1 2908 genome.wustl.edu 37 5 142779750 142779750 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024094.1 -1 reviewed p.I219L 1.000 92 0% 75 37.3% 0 - benign(0) tolerated(0.29) neutral(0.029) HMMPfam_GCR YIPF5 81555 genome.wustl.edu 37 5 143545130 143545130 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024947.2 -1 validated p.F50C 0.999 236 0% 125 45.6% 45 53.3% possibly_damaging(0.915) tolerated(0.08) deleterious(0.666) NULL SH3RF2 153769 genome.wustl.edu 37 5 145317746 145317746 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152550.3 +1 validated p.G85 0.000 17 0% 18 38.9% 8 62.5% - - - NULL LARS 51520 genome.wustl.edu 37 5 145493791 145493791 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020117.9 -1 reviewed p.E1137K 0.977 119 0% 51 37.3% 98 42.8% benign(0.062) tolerated(0.24) neutral(0.041) NULL RBM27 54439 genome.wustl.edu 37 5 145664204 145664204 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018989.1 +1 validated p.K1003T 1.000 201 0% 57 38.6% 11 36.3% probably_damaging(0.99) tolerated(0.2) deleterious(0.490) NULL PPP2R2B 5521 genome.wustl.edu 37 5 145979974 145979974 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181676.2 -1 reviewed p.I283M 1.000 189 0.5% 87 41.4% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMSmart_SM00320,superfamily_WD40 repeat-like DPYSL3 1809 genome.wustl.edu 37 5 146775168 146775168 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001387.2 -1 validated p.P526 0.006 32 0% 26 53.8% 13 53.8% - - - NULL JAKMIP2 9832 genome.wustl.edu 37 5 146997649 146997649 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014790.3 -1 provisional p.Y724C 1.000 266 0% 132 34.8% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SPINK5 11005 genome.wustl.edu 37 5 147443688 147443688 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398459 +1 known p.S27 0.006 157 0% 63 31.7% 0 - - - - superfamily_SSF100895 SPINK5 11005 genome.wustl.edu 37 5 147451757 147451757 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127698.1 +1 reviewed p.A86T 0.821 97 0% 28 53.6% 0 - possibly_damaging(0.748) deleterious(0) deleterious(0.719) HMMPfam_Kazal_2 SPINK13 153218 genome.wustl.edu 37 5 147661693 147661693 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040129.2 +1 provisional p.L45 0.000 156 0% 82 20.7% 0 - - - - superfamily_Kazal-type serine protease inhibitors SPINK7 84651 genome.wustl.edu 37 5 147693745 147693745 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032566.2 +1 validated p.Y57C 1.000 163 0% 48 45.8% 1 0% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_Kazal_1,HMMSmart_KAZAL,PatternScan_KAZAL,superfamily_SSF100895 FBXO38 81545 genome.wustl.edu 37 5 147774449 147774449 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_205836.1 +1 validated p.V37A 1.000 328 0% 109 38.5% 2 50% benign(0.081) deleterious(0) neutral(0.451) HMMPfam_F-box,superfamily_F-box domain FBXO38 81545 genome.wustl.edu 37 5 147805255 147805255 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_205836.1 +1 validated p.E637* 1.000 105 0% 56 53.6% 9 11.1% - - - NULL HTR4 3360 genome.wustl.edu 37 5 147889301 147889301 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040173.2 -1 reviewed p.M265T 1.000 38 0% 25 40% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 ADRB2 154 genome.wustl.edu 37 5 148206692 148206692 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000024.5 +1 reviewed p.T100A 0.723 93 0% 71 39.4% 6 33.3% benign(0) tolerated(0.51) neutral(0.009) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AFAP1L1 134265 genome.wustl.edu 37 5 148699264 148699264 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152406.2 +1 validated p.I533 1.000 26 0% 17 52.9% 2 50% - - - NULL AFAP1L1 134265 genome.wustl.edu 37 5 148702273 148702273 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152406.2 +1 validated p.H601 0.483 17 0% 20 40% 1 0% - - - NULL PCYOX1L 78991 genome.wustl.edu 37 5 148745641 148745641 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024028.3 +1 validated p.R203C 1.000 14 0% 26 42.3% 12 25% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Prenylcys_lyase,superfamily_FAD/NAD(P)-binding domain SLC26A2 1836 genome.wustl.edu 37 5 149357555 149357555 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000112.3 +1 reviewed p.S114P 1.000 218 0% 121 43.8% 9 55.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC26A2 1836 genome.wustl.edu 37 5 149361167 149361167 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000112.3 +1 reviewed p.R671C 1.000 90 0% 45 53.3% 12 58.3% benign(0.078) tolerated(0.18) neutral(0.061) HMMPfam_STAS,superfamily_STAS CSF1R 1436 genome.wustl.edu 37 5 149450108 149450108 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005211.3 -1 reviewed p.R370H 1.000 37 0% 22 36.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,superfamily_SSF48726 PDGFRB 5159 genome.wustl.edu 37 5 149513484 149513484 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002609.3 -1 reviewed p.N240S 0.044 49 0% 28 42.9% 21 0% benign(0.029) tolerated(0.98) neutral(0.002) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 SLC6A7 6534 genome.wustl.edu 37 5 149582159 149582159 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014228.3 +1 validated p.T327I 1.000 31 0% 31 16.1% 0 - possibly_damaging(0.469) deleterious(0.01) deleterious(0.559) HMMPfam_SNF CAMK2A 815 genome.wustl.edu 37 5 149633037 149633037 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015981.3 -1 reviewed p.E162* 1.000 40 0% 28 46.4% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC100287940 100287940 genome.wustl.edu 37 5 149677950 149677950 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342566.1 +1 model p.G267C 0.995 19 0% 30 46.7% 3 33.3% - - - NULL TCOF1 6949 genome.wustl.edu 37 5 149755423 149755423 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135243.1 +1 reviewed p.S615L 0.020 23 0% 21 42.9% 41 53.6% possibly_damaging(0.873) tolerated(0.23) neutral(0.381) HMMPfam_Treacle NDST1 3340 genome.wustl.edu 37 5 149915384 149915384 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001543.4 +1 validated p.T458 0.011 18 0% 14 57.1% 31 45.1% - - - NULL NDST1 3340 genome.wustl.edu 37 5 149919785 149919785 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001543.4 +1 validated p.Y570H 1.000 24 0% 15 46.7% 19 52.6% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL NDST1 3340 genome.wustl.edu 37 5 149924914 149924914 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001543.4 +1 validated p.D671N 1.000 53 0% 44 52.3% 32 40.6% possibly_damaging(0.801) tolerated(0.23) neutral(0.343) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases NDST1 3340 genome.wustl.edu 37 5 149929316 149929316 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001543.4 +1 validated p.V798A 1.000 86 0% 65 47.7% 16 25% benign(0.185) tolerated(0.14) neutral(0.267) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases SYNPO 11346 genome.wustl.edu 37 5 149997993 149997993 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000314840 +1 known p.A22T 0.000 6 0.000 15 0.533 0 - benign(0) tolerated(1) - NULL SYNPO 11346 genome.wustl.edu 37 5 150029010 150029010 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007286.5 +1 validated p.P391 0.485 10 0% 18 44.4% 7 0% - - - NULL DCTN4 51164 genome.wustl.edu 37 5 150090797 150090797 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135643.1 -1 validated p.R440C 1.000 92 0% 71 43.7% 29 44.8% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Dynactin_p62 ZNF300 91975 genome.wustl.edu 37 5 150275163 150275163 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052860.2 -1 reviewed p.E546D 1.000 177 0% 60 56.7% 0 - possibly_damaging(0.53) deleterious(0) deleterious(0.623) superfamily_C2H2 and C2HC zinc fingers ANXA6 309 genome.wustl.edu 37 5 150503912 150503912 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001155.3 -1 reviewed p.R358H 0.930 58 0% 51 41.2% 263 39.5% benign(0) tolerated(0.24) neutral(0.037) superfamily_Annexin SLC36A2 153201 genome.wustl.edu 37 5 150714888 150714888 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181776.2 -1 validated e6+2 0.996 76 0% 48 45.8% 0 - - - - - SLC36A1 206358 genome.wustl.edu 37 5 150858974 150858974 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_078483.2 +1 reviewed p.F361L 0.022 89 0% 67 40.3% 2 0% benign(0) tolerated(0.65) neutral(0.003) HMMPfam_Aa_trans SPARC 6678 genome.wustl.edu 37 5 151043770 151043770 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003118.2 -1 provisional p.P254Q 1.000 17 0% 30 40% 464 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SPARC_Ca_bdg,superfamily_EF-hand ATOX1 475 genome.wustl.edu 37 5 151125930 151125930 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004045.3 -1 reviewed p.L55 0.972 89 0% 69 26.1% 160 46.8% - - - HMMPfam_HMA,superfamily_HMA heavy metal-associated domain GLRA1 2741 genome.wustl.edu 37 5 151235874 151235874 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000171.3 -1 reviewed p.Q183* 1.000 102 0% 92 32.6% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GRIA1 2890 genome.wustl.edu 37 5 153056610 153056610 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000827.3 +1 reviewed p.S306 1.000 35 0% 30 40% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIA1 2890 genome.wustl.edu 37 5 153065856 153065856 + Silent SNP C C T rs142420782 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000827.3 +1 reviewed p.H367 0.999 86 0% 55 47.3% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIA1 2890 genome.wustl.edu 37 5 153085276 153085276 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000827.3 +1 reviewed p.A491V 1.000 118 0% 41 36.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRIA1 2890 genome.wustl.edu 37 5 153085444 153085444 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000827.3 +1 reviewed p.Y547C 1.000 402 0.2% 163 47.2% 0 - probably_damaging(0.997) tolerated(0.13) deleterious(0.719) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II HAND1 9421 genome.wustl.edu 37 5 153857327 153857327 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004821.2 -1 reviewed p.S81N 1.000 6 0.000 13 0.385 0 - benign(0.039) tolerated(0.35) neutral(0.022) NULL LARP1 23367 genome.wustl.edu 37 5 154173816 154173816 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015315.3 +1 validated p.R332H 1.000 65 0% 72 48.6% 63 41.2% possibly_damaging(0.765) deleterious(0.05) deleterious(0.629) HMMPfam_La,HMMSmart_LA,superfamily_SSF46785 LARP1 23367 genome.wustl.edu 37 5 154183160 154183160 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015315.3 +1 validated p.R688H 1.000 103 0% 72 40.3% 99 38.3% benign(0.083) tolerated(0.24) neutral(0.043) NULL GEMIN5 25929 genome.wustl.edu 37 5 154271271 154271271 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015465.3 -1 validated p.D1264 0.242 36 0% 29 34.5% 15 46.6% - - - NULL KIF4B 285643 genome.wustl.edu 37 5 154393955 154393955 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099293.1 +1 provisional p.K179T 0.958 323 0% 178 38.2% 0 - benign(0.332) tolerated(0.22) neutral(0.146) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KIF4B 285643 genome.wustl.edu 37 5 154395589 154395589 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099293.1 +1 provisional p.V724F 0.897 177 0% 131 38.9% 0 - probably_damaging(0.976) deleterious(0.03) deleterious(0.782) NULL SGCD 6444 genome.wustl.edu 37 5 156074519 156074519 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000337.5 +1 reviewed p.V183A 1.000 221 0% 60 40% 1 0% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_Sarcoglycan_1 HAVCR2 84868 genome.wustl.edu 37 5 156533902 156533902 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032782.3 -1 validated p.A44T 0.000 29 0% 23 34.8% 3 0% benign(0) tolerated(0.45) neutral(0.012) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MED7 9443 genome.wustl.edu 37 5 156566251 156566251 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100816.1 -1 reviewed p.I64 0.963 148 0.7% 96 43.8% 13 38.4% - - - HMMPfam_MED7 FAM71B 153745 genome.wustl.edu 37 5 156590335 156590335 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130899.2 -1 validated p.A314V 0.001 63 0% 20 55% 0 - benign(0.144) tolerated(0.21) neutral(0.056) NULL FAM71B 153745 genome.wustl.edu 37 5 156592849 156592849 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130899.2 -1 validated p.R111C 0.128 64 0% 38 42.1% 0 - possibly_damaging(0.867) tolerated(0.24) neutral(0.374) NULL ITK 3702 genome.wustl.edu 37 5 156670797 156670797 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005546.3 +1 reviewed p.V409L 1.000 144 0% 73 56.2% 0 - benign(0.023) tolerated(0.14) neutral(0.251) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CYFIP2 26999 genome.wustl.edu 37 5 156750959 156750959 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037332.2 +1 validated p.L568F 1.000 91 0% 75 40% 2 50% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_FragX_IP ADAM19 8728 genome.wustl.edu 37 5 156915472 156915472 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033274.2 -1 reviewed p.R784Q 0.943 13 0.000 9 0.556 1 0% possibly_damaging(0.781) tolerated(0.46) neutral(0.304) NULL ADAM19 8728 genome.wustl.edu 37 5 156916128 156916128 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033274.2 -1 reviewed p.T769 0.000 54 0% 35 37.1% 2 50% - - - NULL ADAM19 8728 genome.wustl.edu 37 5 156918708 156918708 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033274.2 -1 reviewed p.C670 1.000 15 0% 18 55.6% 1 0% - - - PatternScan_EGF_2,HMMPfam_EGF_2 SOX30 11063 genome.wustl.edu 37 5 157065357 157065357 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178424.1 -1 reviewed p.P587 1.000 89 0% 31 45.2% 0 - - - - NULL SOX30 11063 genome.wustl.edu 37 5 157065484 157065484 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178424.1 -1 reviewed p.R545M 0.988 74 0% 42 45.2% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CLINT1 9685 genome.wustl.edu 37 5 157240152 157240152 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014666.2 -1 validated p.R146C 1.000 398 0.3% 196 43.4% 57 40.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ENTH/VHS domain,HMMSmart_SM00273 EBF1 1879 genome.wustl.edu 37 5 158250203 158250203 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024007.3 -1 validated p.T253 1.000 100 0% 36 41.7% 3 33.3% - - - NULL EBF1 1879 genome.wustl.edu 37 5 158523397 158523397 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024007.3 -1 validated p.K103 1.000 133 0% 115 40.9% 2 50% - - - NULL RNF145 153830 genome.wustl.edu 37 5 158601111 158601111 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144726.1 -1 provisional p.V254A 1.000 109 0% 39 15.4% 54 40.7% benign(0.016) tolerated(0.72) neutral(0.002) NULL ADRA1B 147 genome.wustl.edu 37 5 159344376 159344376 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000679.3 +1 reviewed p.T155M 1.000 47 0% 47 51.1% 0 - possibly_damaging(0.637) tolerated(0.24) neutral(0.261) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PWWP2A 114825 genome.wustl.edu 37 5 159520902 159520902 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130864.1 -1 validated p.S252N 0.395 257 0% 136 41.9% 13 30.7% benign(0) tolerated(0.25) neutral(0.037) NULL C5orf54 63920 genome.wustl.edu 37 5 159821870 159821870 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022090.3 -1 validated p.L210 0.981 138 0% 62 53.2% 4 75% - - - NULL ATP10B 23120 genome.wustl.edu 37 5 160029648 160029648 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025153.2 -1 validated p.V1100G 1.000 36 0% 20 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GABRB2 2561 genome.wustl.edu 37 5 160886722 160886722 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021911.2 -1 reviewed p.F122L 1.000 136 0% 56 12.5% 0 - probably_damaging(0.979) tolerated(0.45) neutral(0.434) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRG2 2566 genome.wustl.edu 37 5 161520929 161520929 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198903.2 +1 reviewed p.V68A 1.000 424 0% 81 9.9% 0 - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRG2 2566 genome.wustl.edu 37 5 161524669 161524669 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198903.2 +1 reviewed p.A118V 1.000 160 0% 27 63% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CCNG1 900 genome.wustl.edu 37 5 162869126 162869126 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004060.3 +1 reviewed p.E225K 1.000 313 0% 172 42.4% 69 50.7% benign(0.001) tolerated(0.82) neutral(0.001) NULL HMMR 3161 genome.wustl.edu 37 5 162898375 162898375 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142556.1 +1 reviewed p.M186V 0.004 188 0% 86 12.8% 7 0% benign(0) tolerated(0.29) neutral(0.029) NULL ODZ2 57451 genome.wustl.edu 37 5 166802254 166802254 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122679.1 +1 inferred p.R93Q 1.000 48 0% 27 48.1% 0 - possibly_damaging(0.689) tolerated(0.53) neutral(0.254) HMMPfam_Ten_N ODZ2 57451 genome.wustl.edu 37 5 167303060 167303060 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122679.1 +1 inferred p.P191H 1.000 169 0% 78 39.7% 0 - benign(0.01) deleterious(0.03) neutral(0.365) HMMPfam_Ten_N ODZ2 57451 genome.wustl.edu 37 5 167626962 167626962 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122679.1 +1 inferred p.T1077A 1.000 91 0% 66 21.2% 0 - benign(0) tolerated(0.58) neutral(0.005) superfamily_Concanavalin A-like lectins/glucanases ENSG00000233913 0 genome.wustl.edu 37 5 168043771 168043771 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000421908 +1 known p.R139C 1.000 22 0% 19 47.4% 5 0% - - - HMMPfam_Ribosomal_L16,superfamily_Ribosomal protein L10e SLIT3 6586 genome.wustl.edu 37 5 168199840 168199840 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003062.2 -1 validated p.R469* 1.000 25 0% 21 52.4% 0 - - - - HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_RNI-like MIR585 693170 genome.wustl.edu 37 5 168690619 168690619 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000384887 -1 known NULL 0.000 50 0% 32 46.9% 0 - - - - - DOCK2 1794 genome.wustl.edu 37 5 169230185 169230185 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004946.2 +1 validated p.L893S 1.000 83 0% 41 29.3% 3 0% possibly_damaging(0.928) deleterious(0) deleterious(0.820) NULL FAM196B 100131897 genome.wustl.edu 37 5 169308421 169308421 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001129891.1 -1 predicted p.D458Y 1.000 90 0% 37 48.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM196B 100131897 genome.wustl.edu 37 5 169310737 169310737 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001129891.1 -1 predicted p.V56I 0.000 101 0% 47 38.3% 0 - benign(0.099) tolerated(0.36) neutral(0.028) NULL DOCK2 1794 genome.wustl.edu 37 5 169410118 169410118 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004946.2 +1 validated p.D949G 1.000 142 0% 55 52.7% 3 0% possibly_damaging(0.666) deleterious(0.02) deleterious(0.619) NULL DOCK2 1794 genome.wustl.edu 37 5 169494675 169494675 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004946.2 +1 validated p.F1543 0.595 112 0% 88 56.8% 2 0% - - - superfamily_Cytochrome c DOCK2 1794 genome.wustl.edu 37 5 169506128 169506128 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004946.2 +1 validated p.A1715V 0.000 59 0% 16 87.5% 8 0% benign(0) tolerated(0.27) neutral(0.034) NULL KCNMB1 3779 genome.wustl.edu 37 5 169805857 169805857 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004137.2 -1 reviewed p.E143K 0.464 68 0% 50 40% 7 0% possibly_damaging(0.896) tolerated(0.17) neutral(0.412) HMMPfam_CaKB KCNIP1 30820 genome.wustl.edu 37 5 170160852 170160852 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001034837.1 +1 reviewed p.N196H 1.000 301 0% 142 36.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand FBXW11 23291 genome.wustl.edu 37 5 171337655 171337655 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012300.2 -1 reviewed p.R98 1.000 191 0% 65 46.2% 18 33.3% - - - NULL EFCAB9 285588 genome.wustl.edu 37 5 171626473 171626473 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398186 +1 known p.A75T 0.007 59 0% 33 51.5% 0 - probably_damaging(0.99) tolerated(0.11) deleterious(0.713) superfamily_SSF47473 RPL26L1 51121 genome.wustl.edu 37 5 172395553 172395553 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016093.2 +1 reviewed p.R87H 1.000 85 0% 43 46.5% 112 38.3% benign(0.394) deleterious(0.02) deleterious(0.510) superfamily_Translation proteins SH3-like domain CREBRF 153222 genome.wustl.edu 37 5 172550138 172550138 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153607.2 +1 validated p.Q579 1.000 197 0% 87 40.2% 1 0% - - - NULL BNIP1 662 genome.wustl.edu 37 5 172573933 172573933 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013979.2 +1 reviewed p.K50T 1.000 109 0% 62 51.6% 13 69.2% benign(0.015) tolerated(0.13) neutral(0.253) NULL BNIP1 662 genome.wustl.edu 37 5 172590872 172590872 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013979.2 +1 reviewed p.F255S 0.998 160 0% 97 47.4% 13 61.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec20 CPEB4 80315 genome.wustl.edu 37 5 173317477 173317477 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030627.2 +1 validated p.Q247H 1.000 131 0% 105 10.5% 5 40% possibly_damaging(0.859) deleterious(0.03) deleterious(0.697) NULL CPEB4 80315 genome.wustl.edu 37 5 173317792 173317792 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030627.2 +1 validated p.S352R 1.000 48 0% 36 41.7% 3 33.3% benign(0.273) deleterious(0.02) neutral(0.412) NULL THOC3 84321 genome.wustl.edu 37 5 175391978 175391978 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032361.2 -1 validated p.G202D 1.000 257 0% 203 23.6% 71 36.6% possibly_damaging(0.937) deleterious(0.01) deleterious(0.788) superfamily_WD40_like C5orf25 375484 genome.wustl.edu 37 5 175763861 175763861 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198567.4 +1 validated p.T336 0.011 115 0% 68 32.4% 12 41.6% - - - NULL C5orf25 375484 genome.wustl.edu 37 5 175772311 175772311 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198567.4 +1 validated p.R413C 0.374 61 0% 44 13.6% 15 13.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAF2 23197 genome.wustl.edu 37 5 175927110 175927110 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014613.2 +1 reviewed p.R373Q 1.000 106 2.8% 61 45.9% 21 52.3% probably_damaging(0.997) tolerated(0.11) deleterious(0.738) HMMPfam_UBX,superfamily_SSF54236 FAF2 23197 genome.wustl.edu 37 5 175933841 175933841 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014613.2 +1 reviewed p.R410* 1.000 143 0% 94 13.8% 22 4.5% - - - HMMPfam_UBX,superfamily_SSF54236 RNF44 22838 genome.wustl.edu 37 5 175956357 175956357 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014901.4 -1 reviewed p.R390W 0.981 19 0% 14 64.3% 69 46.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 CDHR2 54825 genome.wustl.edu 37 5 175995804 175995804 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017675.4 +1 reviewed p.A84T 0.000 19 0% 24 41.7% 0 - benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDHR2 54825 genome.wustl.edu 37 5 176005439 176005439 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017675.4 +1 reviewed p.S550G 0.060 14 0% 16 43.8% 0 - benign(0.025) tolerated(0.5) neutral(0.011) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDHR2 54825 genome.wustl.edu 37 5 176011689 176011689 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017675.4 +1 reviewed p.D803N 0.973 16 0% 18 55.6% 0 - probably_damaging(1) tolerated(0.67) deleterious(0.502) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin CDHR2 54825 genome.wustl.edu 37 5 176018285 176018285 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017675.4 +1 reviewed p.A1205V 0.000 21 0% 31 51.6% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL GPRIN1 114787 genome.wustl.edu 37 5 176025294 176025294 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052899.2 -1 validated p.A514 0.003 35 0% 26 30.8% 4 25% - - - NULL TSPAN17 26262 genome.wustl.edu 37 5 176078758 176078758 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012171.1 +1 validated p.V48I 0.997 57 0% 72 45.8% 52 36.5% probably_damaging(0.955) tolerated(0.32) neutral(0.423) HMMPfam_Tetraspannin UNC5A 90249 genome.wustl.edu 37 5 176295178 176295178 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133369.2 +1 validated p.E114K 1.000 34 0% 42 50% 1 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_SSF48726 HK3 3101 genome.wustl.edu 37 5 176308847 176308847 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002115.2 -1 reviewed p.F747L 1.000 50 0% 29 41.4% 3 0% possibly_damaging(0.929) deleterious(0.01) deleterious(0.782) HMMPfam_Hexokinase_2,superfamily_SSF53067 HK3 3101 genome.wustl.edu 37 5 176309033 176309033 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002115.2 -1 reviewed p.A717T 1.000 9 0.000 11 0.545 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hexokinase_2,superfamily_SSF53067 UIMC1 51720 genome.wustl.edu 37 5 176370441 176370441 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016290.3 -1 provisional p.S498A 0.007 217 0% 104 19.2% 32 25% probably_damaging(0.963) tolerated(0.13) deleterious(0.658) NULL LOC100289405 100289405 genome.wustl.edu 37 5 176524551 176524551 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342584.1 -1 model p.E52K 0.996 26 0% 32 50% 21 28.5% - - - NULL NSD1 64324 genome.wustl.edu 37 5 176637237 176637237 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022455.4 +1 reviewed p.L613M 0.000 77 0% 43 27.9% 9 22.2% possibly_damaging(0.837) tolerated(0.2) neutral(0.368) NULL NSD1 64324 genome.wustl.edu 37 5 176684042 176684042 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022455.4 +1 reviewed p.C1619Y 1.000 185 0% 108 38.9% 10 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00249 NSD1 64324 genome.wustl.edu 37 5 176709530 176709530 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022455.4 +1 reviewed p.R1986H 1.000 437 0% 210 47.6% 9 55.5% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain LMAN2 10960 genome.wustl.edu 37 5 176761322 176761322 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006816.2 -1 reviewed p.K291N 1.000 13 0% 23 43.5% 241 39% benign(0.038) deleterious(0.02) neutral(0.385) NULL SLC34A1 6569 genome.wustl.edu 37 5 176825280 176825280 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003052.4 +1 reviewed p.R638H 0.674 6 0.000 6 0.833 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DBN1 1627 genome.wustl.edu 37 5 176887474 176887474 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080881.2 -1 reviewed p.A307V 0.054 44 2.3% 47 48.9% 308 41.2% benign(0) deleterious(0.02) neutral(0.383) NULL PDLIM7 9260 genome.wustl.edu 37 5 176910891 176910891 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005451.3 -1 reviewed p.H422Y 1.000 9 0.000 15 0.467 148 23.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LOC202181 202181 genome.wustl.edu 37 5 177054582 177054582 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_026921.1 -1 predicted NULL 1.000 140 0.7% 58 41.4% 1 0% - - - - ZNF354A 6940 genome.wustl.edu 37 5 178139424 178139424 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005649.2 -1 validated p.Q485H 1.000 330 0% 167 44.3% 17 52.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP2 80108 genome.wustl.edu 37 5 178358467 178358467 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030613.2 +1 provisional p.F51 0.338 225 0% 101 34.7% 0 - - - - NULL ZFP2 80108 genome.wustl.edu 37 5 178358763 178358763 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030613.2 +1 provisional p.R150I 1.000 117 0% 54 50% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000249299 0 genome.wustl.edu 37 5 178359763 178359763 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000503510 -1 novel NULL 0.000 41 0% 26 15.4% 0 - - - - - ZNF879 345462 genome.wustl.edu 37 5 178459871 178459871 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136116.1 +1 provisional p.R308* 0.971 85 0% 37 37.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF879 345462 genome.wustl.edu 37 5 178460353 178460353 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136116.1 +1 provisional p.H468Q 0.589 220 0% 80 37.5% 0 - benign(0.103) tolerated(0.3) neutral(0.037) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF354C 30832 genome.wustl.edu 37 5 178506945 178506945 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014594.1 +1 provisional p.A504 0.677 219 0% 94 44.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ADAMTS2 9509 genome.wustl.edu 37 5 178541161 178541161 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014244.2 -1 reviewed p.D1115N 0.994 115 0% 95 35.8% 4 0% benign(0.103) tolerated(0.41) neutral(0.023) NULL ADAMTS2 9509 genome.wustl.edu 37 5 178562923 178562923 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014244.2 -1 reviewed p.R691H 1.000 11 0% 15 53.3% 7 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL MGAT4B 11282 genome.wustl.edu 37 5 179226010 179226010 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_054013.3 -1 reviewed p.R436C 1.000 31 0% 24 45.8% 185 48.1% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TBC1D9B 23061 genome.wustl.edu 37 5 179306112 179306112 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198868.2 -1 validated p.T501M 0.997 12 0% 13 53.8% 59 49.1% possibly_damaging(0.948) tolerated(0.07) deleterious(0.710) superfamily_Ypt/Rab-GAP domain of gyp1p MIR340 442908 genome.wustl.edu 37 5 179442352 179442352 + RNA SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000362125 -1 known NULL 0.889 205 0% 122 41.8% 0 - - - - - MAPK9 5601 genome.wustl.edu 37 5 179663388 179663388 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002752.4 -1 reviewed p.R424Q 1.000 84 0% 53 34% 27 59.2% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL MAPK9 5601 genome.wustl.edu 37 5 179688809 179688809 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002752.4 -1 reviewed p.E109K 1.000 214 0% 104 38.5% 19 42.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GFPT2 9945 genome.wustl.edu 37 5 179755307 179755307 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005110.2 -1 provisional p.V189D 1.000 149 0% 106 53.8% 0 - benign(0.067) tolerated(0.2) neutral(0.053) HMMPfam_GATase_2,superfamily_SSF56235 CNOT6 57472 genome.wustl.edu 37 5 179994143 179994143 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015455.3 +1 reviewed p.G258V 1.000 331 0% 143 35% 19 36.8% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Exo_endo_phos,superfamily_DNase I-like FLT4 2324 genome.wustl.edu 37 5 180057234 180057234 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182925.4 -1 reviewed p.T168 0.264 20 0% 24 45.8% 0 - - - - superfamily_Immunoglobulin FLT4 2324 genome.wustl.edu 37 5 180057258 180057258 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182925.4 -1 reviewed p.V160 1.000 25 0% 34 41.2% 1 0% - - - superfamily_Immunoglobulin FLT4 2324 genome.wustl.edu 37 5 180057690 180057690 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182925.4 -1 reviewed p.A89T 0.000 45 0% 33 12.1% 2 0% benign(0) tolerated(0.82) neutral(0.001) HMMSmart_SM00409,superfamily_Immunoglobulin OR2V1 26693 genome.wustl.edu 37 5 180551489 180551489 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000329365 -1 known p.D272E 1.000 21 0% 18 33.3% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_7tm_1,superfamily_SSF81321 EXOC2 55770 genome.wustl.edu 37 6 532576 532576 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018303.4 -1 reviewed p.R758I 1.000 257 0% 129 34.1% 19 36.8% benign(0.403) tolerated(0.15) neutral(0.370) NULL MYLK4 340156 genome.wustl.edu 37 6 2749475 2749475 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012418.3 -1 validated p.Q18 0.002 348 0% 165 42.4% 1 0% - - - NULL WRNIP1 56897 genome.wustl.edu 37 6 2768962 2768962 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020135.2 +1 reviewed p.K287T 0.998 171 0% 130 41.5% 60 36.6% benign(0.065) tolerated(0.14) neutral(0.254) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SERPINB9 5272 genome.wustl.edu 37 6 2890485 2890485 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004155.4 -1 validated p.R348M 0.006 32 0% 39 53.8% 59 38.9% benign(0.008) tolerated(0.05) neutral(0.345) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin RIPK1 8737 genome.wustl.edu 37 6 3113487 3113487 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003804.3 +1 validated p.A644T 0.997 52 0% 44 36.4% 7 28.5% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain PSMG4 389362 genome.wustl.edu 37 6 3263966 3263966 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128592.1 +1 validated p.T75A 0.775 45 0% 51 35.3% 49 20.4% benign(0.044) tolerated(0.16) neutral(0.062) NULL PXDC1 221749 genome.wustl.edu 37 6 3738329 3738329 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380277 -1 known p.W51* 1.000 173 0% 165 46.1% 18 44.4% possibly_damaging(0.942) tolerated(0.1) deleterious(0.673) superfamily_PX domain FAM217A 222826 genome.wustl.edu 37 6 4069988 4069988 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173563.1 -1 predicted p.D157Y 1.000 263 0.4% 195 43.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CDYL 9425 genome.wustl.edu 37 6 4892427 4892427 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004824.3 +1 reviewed p.V169I 0.000 32 0% 39 38.5% 18 38.8% benign(0) tolerated(1) - NULL LYRM4 57128 genome.wustl.edu 37 6 5216963 5216963 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020408.4 -1 validated p.A32D 1.000 633 0% 363 41% 30 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Complex1_LYR F13A1 2162 genome.wustl.edu 37 6 6225075 6225075 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000129.3 -1 reviewed p.E273K 0.864 44 0% 22 63.6% 1 0% benign(0.001) tolerated(0.2) neutral(0.049) superfamily_SSF54001 CAGE1 285782 genome.wustl.edu 37 6 7365777 7365777 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_205864.2 -1 validated p.S543I 0.000 385 0% 146 45.2% 0 - possibly_damaging(0.681) deleterious(0.04) deleterious(0.592) NULL CAGE1 285782 genome.wustl.edu 37 6 7373437 7373437 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_205864.2 -1 validated p.E403K 0.000 717 0% 345 48.7% 0 - possibly_damaging(0.478) tolerated(0.32) neutral(0.182) NULL CAGE1 285782 genome.wustl.edu 37 6 7374002 7374002 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_205864.2 -1 validated p.F214L 0.000 419 0% 209 43.1% 0 - benign(0.15) tolerated(0.99) neutral(0.013) NULL DSP 1832 genome.wustl.edu 37 6 7562982 7562982 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004415.2 +1 reviewed p.R232H 1.000 74 0% 75 48% 49 40.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00150,superfamily_Spectrin repeat DSP 1832 genome.wustl.edu 37 6 7563982 7563982 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004415.2 +1 reviewed p.A247V 0.995 457 0% 254 43.7% 40 55% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMSmart_SM00150,superfamily_Spectrin repeat DSP 1832 genome.wustl.edu 37 6 7568713 7568713 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004415.2 +1 reviewed p.N437S 1.000 176 0% 100 42% 40 52.5% benign(0) tolerated(0.34) neutral(0.023) superfamily_Spectrin repeat BMP6 654 genome.wustl.edu 37 6 7861758 7861758 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001718.4 +1 reviewed p.T311M 0.999 106 0% 81 12.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGFb_propeptide TXNDC5 81567 genome.wustl.edu 37 6 7889769 7889769 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030810.2 -1 reviewed p.R260C 1.000 106 0.9% 74 47.3% 111 46.8% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin SLC35B3 51000 genome.wustl.edu 37 6 8417203 8417203 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142540.1 -1 validated p.A300V 1.000 186 0% 65 29.2% 13 38.4% benign(0.001) tolerated(0.95) - HMMPfam_UAA,superfamily_Multidrug resistance efflux transporter EmrE SLC35B3 51000 genome.wustl.edu 37 6 8435591 8435591 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000426876 -1 known p.T18A 0.001 4 0.000 5 0.800 20 45% unknown(0) - - NULL TFAP2A 7020 genome.wustl.edu 37 6 10398805 10398805 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003220.2 -1 reviewed p.G387S 1.000 59 0% 59 47.5% 66 57.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TF_AP-2 TFAP2A 7020 genome.wustl.edu 37 6 10410257 10410257 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000488193 -1 known p.G74R 1.000 7 0.000 13 0.462 55 47.2% unknown(0) deleterious(0) - NULL TFAP2A 7020 genome.wustl.edu 37 6 10419655 10419655 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042425.1 -1 reviewed p.W10L 1.000 22 0% 30 50% 6 16.6% benign(0.001) tolerated(0.45) neutral(0.012) NULL GCNT2 2651 genome.wustl.edu 37 6 10586509 10586509 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145655.3 +1 reviewed p.P96H 1.000 131 0% 79 15.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM14B 81853 genome.wustl.edu 37 6 10755514 10755514 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000475942 +1 known p.L114 0.000 293 0% 190 35.8% 1 0% - - - NULL SYCP2L 221711 genome.wustl.edu 37 6 10924805 10924805 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040274.2 +1 validated p.I383 0.671 370 0% 166 38% 0 - - - - NULL SYCP2L 221711 genome.wustl.edu 37 6 10930619 10930619 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040274.2 +1 validated p.K502T 0.982 290 0% 132 50% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL ERVFRD-1 405754 genome.wustl.edu 37 6 11103941 11103941 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207582.2 -1 validated p.E535* 0.094 73 0% 50 28% 0 - - - - NULL ERVFRD-1 405754 genome.wustl.edu 37 6 11104655 11104655 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207582.2 -1 validated p.A297S 0.747 102 0% 50 14% 0 - possibly_damaging(0.794) tolerated(0.14) deleterious(0.547) HMMPfam_TLV_coat NEDD9 4739 genome.wustl.edu 37 6 11213561 11213561 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142393.1 -1 validated p.V138L 0.031 178 0% 101 38.6% 23 34.7% benign(0.001) tolerated(1) - NULL NEDD9 4739 genome.wustl.edu 37 6 11213813 11213813 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142393.1 -1 validated p.I54V 1.000 49 0% 50 60% 52 40.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain HIVEP1 3096 genome.wustl.edu 37 6 12120560 12120560 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002114.2 +1 validated p.E178K 0.974 114 0% 66 40.9% 4 25% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL PHACTR1 221692 genome.wustl.edu 37 6 13182840 13182840 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030948.1 +1 validated p.E196K 1.000 63 0% 60 60% 1 0% possibly_damaging(0.882) tolerated(0.4) neutral(0.360) NULL TBC1D7 51256 genome.wustl.edu 37 6 13305376 13305376 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143964.1 -1 validated p.D280G 1.000 40 0% 25 60% 34 55.8% possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) superfamily_Ypt/Rab-GAP domain of gyp1p JARID2 3720 genome.wustl.edu 37 6 15501283 15501283 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004973.2 +1 reviewed p.L697 1.000 10 0% 22 45.5% 15 60% - - - HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like GMPR 2766 genome.wustl.edu 37 6 16274681 16274681 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006877.3 +1 reviewed p.E167 1.000 310 0% 211 40.3% 21 33.3% - - - HMMPfam_IMPDH,superfamily_SSF51412 ATXN1 6310 genome.wustl.edu 37 6 16326932 16326932 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000332.3 -1 reviewed p.A537D 1.000 36 0% 42 33.3% 5 20% benign(0.071) deleterious(0.04) neutral(0.354) NULL CAP2 10486 genome.wustl.edu 37 6 17507510 17507510 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006366.2 +1 reviewed p.S137 0.991 93 0% 53 66% 16 81.2% - - - HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP CAP2 10486 genome.wustl.edu 37 6 17551811 17551811 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006366.2 +1 reviewed p.I442M 0.851 213 0% 105 37.1% 19 52.6% possibly_damaging(0.878) deleterious(0) deleterious(0.786) HMMPfam_CAP_C,superfamily_C-terminal domain of adenylylcyclase associated protein NUP153 9972 genome.wustl.edu 37 6 17669569 17669569 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005124.2 -1 reviewed e7-1 1.000 224 0% 97 45.4% 0 - - - - - KIF13A 63971 genome.wustl.edu 37 6 17805745 17805745 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022113.4 -1 validated p.M755I 1.000 428 0% 208 44.7% 1 0% possibly_damaging(0.902) deleterious(0.02) deleterious(0.740) NULL TPMT 7172 genome.wustl.edu 37 6 18134087 18134087 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000367.2 -1 reviewed p.K176N 0.000 204 0% 115 54.8% 25 24% benign(0.021) tolerated(0.51) neutral(0.010) HMMPfam_TPMT,superfamily_SSF53335 DEK 7913 genome.wustl.edu 37 6 18236743 18236743 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003472.3 -1 reviewed p.I329M 0.811 595 0% 217 53.5% 42 50% benign(0.099) deleterious(0) neutral(0.452) HMMPfam_DEK_C,superfamily_DEK C-terminal domain CDKAL1 54901 genome.wustl.edu 37 6 20955720 20955720 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017774.3 +1 reviewed p.L271 1.000 112 0% 56 44.6% 13 53.8% - - - HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes HDGFL1 154150 genome.wustl.edu 37 6 22569836 22569836 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138574.2 +1 provisional p.S11N 0.000 18 0% 20 30% 0 - benign(0.123) tolerated(0.14) neutral(0.260) HMMPfam_PWWP,HMMSmart_PWWP,superfamily_SSF63748 HDGFL1 154150 genome.wustl.edu 37 6 22569890 22569890 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138574.2 +1 provisional p.I29T 0.016 30 0% 29 17.2% 0 - possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMPfam_PWWP,HMMSmart_PWWP,superfamily_SSF63748 HDGFL1 154150 genome.wustl.edu 37 6 22569907 22569907 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138574.2 +1 provisional p.P35S 0.020 29 0% 31 51.6% 0 - possibly_damaging(0.706) tolerated(0.1) deleterious(0.540) HMMPfam_PWWP,HMMSmart_PWWP,superfamily_SSF63748 GPLD1 2822 genome.wustl.edu 37 6 24454305 24454305 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001503.2 -1 reviewed p.G425C 0.997 34 2.9% 36 55.6% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain C6orf62 81688 genome.wustl.edu 37 6 24718811 24718811 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030939.4 -1 validated p.Q29R 1.000 295 0% 215 32.6% 45 26.6% possibly_damaging(0.776) tolerated(0.09) deleterious(0.586) NULL GMNN 51053 genome.wustl.edu 37 6 24785876 24785876 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015895.3 +1 validated p.G160D 0.000 210 0% 66 36.4% 30 40% benign(0.182) tolerated(0.35) neutral(0.037) HMMPfam_Geminin FAM65B 9750 genome.wustl.edu 37 6 24848299 24848299 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014722.2 -1 validated p.S344I 1.000 114 0% 77 54.5% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM65B 9750 genome.wustl.edu 37 6 24850926 24850926 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014722.2 -1 validated p.R233W 0.996 136 1.5% 97 50.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC16A 55604 genome.wustl.edu 37 6 25471446 25471446 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017640.5 +1 validated p.R247Q 1.000 304 0% 174 48.3% 6 16.6% possibly_damaging(0.892) tolerated(0.28) neutral(0.383) superfamily_SSF52047 SCGN 10590 genome.wustl.edu 37 6 25670236 25670236 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006998.3 +1 reviewed p.R135* 1.000 234 0% 156 10.9% 0 - - - - HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand HIST1H2AA 221613 genome.wustl.edu 37 6 25726566 25726566 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170745.3 -1 reviewed p.L64I 0.990 230 0% 190 49.5% 0 - benign(0.414) deleterious(0) deleterious(0.579) HMMSmart_H2A,HMMPfam_Histone,superfamily_Histone-fold SLC17A1 6568 genome.wustl.edu 37 6 25819302 25819302 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005074.3 -1 validated p.I204V 1.000 109 0% 52 36.5% 0 - benign(0.308) tolerated(0.07) neutral(0.415) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC17A3 10786 genome.wustl.edu 37 6 25850091 25850091 + Missense_Mutation SNP C C T rs145343915 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098486.1 -1 validated p.G405R 0.011 57 0% 23 52.2% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter TRIM38 10475 genome.wustl.edu 37 6 25983486 25983486 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006355.2 +1 reviewed p.Q323H 0.000 101 0% 51 47.1% 16 43.7% benign(0.382) tolerated(0.29) neutral(0.151) HMMSmart_PRY HIST1H1T 3010 genome.wustl.edu 37 6 26107819 26107819 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005323.3 -1 reviewed p.R168I 0.570 272 0% 167 43.1% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL HIST1H4D 8360 genome.wustl.edu 37 6 26189066 26189066 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003539.3 -1 reviewed p.K80R 1.000 52 0% 44 43.2% 10 60% benign(0.033) deleterious(0) neutral(0.446) HMMSmart_SM00417,HMMSmart_SM00803,HMMPfam_Histone,superfamily_Histone-fold HIST1H3E 8353 genome.wustl.edu 37 6 26225768 26225768 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003532.2 +1 reviewed p.R129H 1.000 50 0% 47 44.7% 10 30% probably_damaging(0.999) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold BTN3A2 11118 genome.wustl.edu 37 6 26373141 26373141 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007047.3 +1 reviewed p.S244 0.000 35 0% 34 44.1% 8 50% - - - NULL BTN2A1 11120 genome.wustl.edu 37 6 26468546 26468546 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007049.2 +1 reviewed p.G451 0.027 142 0% 121 44.6% 19 21% - - - HMMPfam_SPRY,HMMSmart_SM00449 BTN2A1 11120 genome.wustl.edu 37 6 26468695 26468695 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007049.2 +1 reviewed p.P501L 0.041 41 0% 51 54.9% 36 44.4% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_SPRY,HMMSmart_SM00449 BTN1A1 696 genome.wustl.edu 37 6 26509198 26509198 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001732.2 +1 validated p.F459L 1.000 72 0% 48 45.8% 0 - possibly_damaging(0.78) deleterious(0.02) deleterious(0.674) HMMPfam_SPRY,HMMSmart_SM00449 ABT1 29777 genome.wustl.edu 37 6 26598749 26598749 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013375.2 +1 reviewed p.E232A 0.968 5 0.000 7 0.857 66 51.5% benign(0.03) tolerated(0.5) neutral(0.011) NULL HIST1H2AG 8969 genome.wustl.edu 37 6 27101186 27101186 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021064.4 +1 reviewed p.I112M 1.000 46 0% 47 46.8% 23 34.7% possibly_damaging(0.524) deleterious(0) deleterious(0.621) HMMSmart_SM00414,superfamily_Histone-fold PRSS16 10279 genome.wustl.edu 37 6 27215676 27215676 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005865.3 +1 reviewed p.R29H 0.687 37 0% 35 31.4% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL PRSS16 10279 genome.wustl.edu 37 6 27222516 27222516 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005865.3 +1 reviewed p.A399T 0.482 38 0% 30 40% 10 50% benign(0.001) tolerated(0.64) neutral(0.003) HMMPfam_Peptidase_S28,superfamily_SSF53474 POM121L2 94026 genome.wustl.edu 37 6 27277047 27277047 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000444565 -1 known p.P968L 0.921 70 0% 72 58.3% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL POM121L2 94026 genome.wustl.edu 37 6 27278433 27278433 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000444565 -1 known p.S506N 0.027 42 0% 65 46.2% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ZNF391 346157 genome.wustl.edu 37 6 27369095 27369095 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001076781.1 +1 validated p.R316* 0.000 136 0% 85 56.5% 4 75% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN16 80345 genome.wustl.edu 37 6 28097710 28097710 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025231.1 +1 provisional p.T343 0.002 201 0% 63 49.2% 4 75% - - - superfamily_SSF57667 ZNF193 7746 genome.wustl.edu 37 6 28200494 28200495 + Frame_Shift_Del DEL AG AG - novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006299.3 +1 provisional p.R243fs 0.000:0.000 - - - - - - - - - NULL ZKSCAN4 387032 genome.wustl.edu 37 6 28219360 28219360 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019110.3 -1 provisional p.R133 1.000 48 0% 37 48.6% 6 50% - - - HMMPfam_SCAN,HMMSmart_SCAN ZNF187 7741 genome.wustl.edu 37 6 28244595 28244595 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152736.4 +1 validated p.I253L 0.987 231 0% 132 37.1% 12 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PGBD1 84547 genome.wustl.edu 37 6 28251727 28251727 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032507.3 +1 reviewed p.R46H 0.448 23 0% 32 53.1% 4 25% possibly_damaging(0.756) tolerated(0.22) neutral(0.321) HMMPfam_SCAN,HMMSmart_SCAN PGBD1 84547 genome.wustl.edu 37 6 28268709 28268709 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032507.3 +1 reviewed p.S360A 1.000 88 0% 43 39.5% 3 33.3% possibly_damaging(0.764) tolerated(0.14) deleterious(0.533) NULL ZSCAN12 9753 genome.wustl.edu 37 6 28360774 28360774 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000361028 -1 known p.R151H 0.001 274 0% 111 53.2% 0 - benign(0.001) tolerated(0.7) neutral(0.002) HMMSmart_SCAN ZSCAN23 222696 genome.wustl.edu 37 6 28402617 28402617 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012455.1 -1 validated p.I265 0.000 115 0% 61 55.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN23 222696 genome.wustl.edu 37 6 28403738 28403738 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012455.1 -1 validated p.E102 0.094 81 0% 51 29.4% 0 - - - - HMMPfam_SCAN,HMMSmart_SCAN SCAND3 114821 genome.wustl.edu 37 6 28539888 28539888 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052923.1 -1 provisional p.L1260F 1.000 162 0% 68 36.8% 1 0% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_hATC SCAND3 114821 genome.wustl.edu 37 6 28541334 28541334 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052923.1 -1 provisional p.R778* 1.000 352 0.3% 119 35.3% 2 0% - - - NULL SCAND3 114821 genome.wustl.edu 37 6 28554157 28554157 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052923.1 -1 provisional p.R113Q 0.992 85 0% 70 55.7% 0 - possibly_damaging(0.513) tolerated(0.28) neutral(0.204) HMMPfam_SCAN,HMMSmart_SCAN SCAND3 114821 genome.wustl.edu 37 6 28554309 28554309 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052923.1 -1 provisional p.E62D 1.000 127 0% 108 43.5% 0 - benign(0.057) tolerated(0.15) neutral(0.244) HMMPfam_SCAN,HMMSmart_SCAN OR2J1 442185 genome.wustl.edu 37 6 29068859 29068859 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000377171 +1 known p.I47T 0.033 56 0% 19 57.9% 0 - benign(0.028) deleterious(0) neutral(0.446) HMMPfam_7tm_1,superfamily_SSF81321 OR2J3 442186 genome.wustl.edu 37 6 29080191 29080191 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005216.2 +1 validated p.R175H 0.000 46 0% 22 54.5% 0 - benign(0.007) tolerated(0.35) neutral(0.021) HMMPfam_7tm_1,superfamily_SSF81321 OR5V1 81696 genome.wustl.edu 37 6 29323961 29323961 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030876.5 -1 validated p.K4N 0.020 120 0% 61 42.6% 0 - benign(0.282) tolerated(0.43) neutral(0.100) superfamily_Family A G protein-coupled receptor-like GABBR1 2550 genome.wustl.edu 37 6 29580347 29580347 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001470.2 -1 reviewed p.T537 0.966 38 0% 32 50% 14 71.4% - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I RPP21 79897 genome.wustl.edu 37 6 30314223 30314223 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024839.1 +1 provisional p.R86C 1.000 24 0% 28 35.7% 215 53% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rpr2 HLA-E 3133 genome.wustl.edu 37 6 30457513 30457513 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005516.4 +1 reviewed p.S25 0.963 7 0.000 11 0.455 132 18.1% - - - HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog GNL1 2794 genome.wustl.edu 37 6 30513952 30513952 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005275.3 -1 validated p.A574V 0.995 47 0% 33 36.4% 71 59.1% probably_damaging(0.979) tolerated(0.08) deleterious(0.722) NULL ABCF1 23 genome.wustl.edu 37 6 30557622 30557622 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001025091.1 +1 reviewed p.R702C 1.000 56 0% 51 47.1% 81 44.4% possibly_damaging(0.598) deleterious(0.02) deleterious(0.590) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases PPP1R10 5514 genome.wustl.edu 37 6 30571284 30571284 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002714.2 -1 reviewed p.G578S 0.889 15 0% 15 53.3% 35 68.5% benign(0.002) tolerated(0.06) neutral(0.323) NULL ATAT1 79969 genome.wustl.edu 37 6 30594987 30594987 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000330083 +1 known p.L3 0.000 132 0% 113 32.7% 2 100% - - - NULL ATAT1 79969 genome.wustl.edu 37 6 30610015 30610015 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024909.2 +1 validated p.D239N 1.000 36 0% 27 29.6% 25 48% possibly_damaging(0.753) deleterious(0.01) deleterious(0.682) NULL C6orf136 221545 genome.wustl.edu 37 6 30619191 30619191 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001109938.2 +1 validated p.V238I 0.084 28 0% 34 38.2% 42 45.2% benign(0.001) tolerated(0.47) neutral(0.011) HMMPfam_DUF2358 DHX16 8449 genome.wustl.edu 37 6 30632990 30632990 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003587.4 -1 reviewed p.R328H 1.000 14 0% 19 42.1% 17 47% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_P-loop containing nucleoside triphosphate hydrolases MDC1 9656 genome.wustl.edu 37 6 30672364 30672364 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000420817 -1 known p.P180L 0.001 81 0% 95 37.9% 28 42.8% - - - NULL VARS2 57176 genome.wustl.edu 37 6 30882985 30882985 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020442.4 +1 validated p.E85A 0.990 97 0% 76 38.2% 11 36.3% benign(0.106) tolerated(0.54) neutral(0.015) NULL DPCR1 135656 genome.wustl.edu 37 6 30916495 30916495 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000462446 +1 known p.R85H 0.000 193 0% 111 31.5% 0 - benign(0.03) tolerated(0.19) neutral(0.051) NULL MICA 100507436 genome.wustl.edu 37 6 31380216 31380216 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000376219 +1 known p.T336A 0.001 176 0% 163 36.8% 23 65.2% - - - NULL DDX39B 7919 genome.wustl.edu 37 6 31503083 31503083 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000453105 -1 known p.A219T 1.000 31 0% 14 85.7% 61 49.1% possibly_damaging(0.753) deleterious(0) deleterious(0.721) NULL PRRC2A 7916 genome.wustl.edu 37 6 31590674 31590674 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080686.2 +1 reviewed p.P36 0.991 164 0% 129 62% 95 57.8% - - - HMMPfam_BAT2_N ABHD16A 7920 genome.wustl.edu 37 6 31661138 31661138 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021160.2 -1 reviewed p.S167R 1.000 8 0.000 7 0.571 37 29.7% probably_damaging(0.992) tolerated(0.43) neutral(0.461) NULL VWA7 80737 genome.wustl.edu 37 6 31741050 31741050 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025258.2 -1 validated p.R296* 0.020 26 0% 21 33.3% 1 100% - - - NULL HSPA1L 3305 genome.wustl.edu 37 6 31779729 31779729 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005527.3 -1 reviewed p.I7 0.001 35 0% 43 48.8% 2 0% - - - superfamily_SSF53067 SLC44A4 80736 genome.wustl.edu 37 6 31833543 31833543 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000414427 -1 known p.W386* 1.000 16 0% 12 50% 3 33.3% - - - HMMPfam_DUF580 CYP21A2 1589 genome.wustl.edu 37 6 32006262 32006262 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000500.5 +1 reviewed p.N21 0.000 11 0% 13 46.2% 0 - - - - NULL CYP21A2 1589 genome.wustl.edu 37 6 32008270 32008270 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000500.5 +1 reviewed p.L343 1.000 14 0% 21 28.6% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 TNXB 7148 genome.wustl.edu 37 6 32015689 32015689 + Silent SNP G G A rs146798373 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019105.6 -1 reviewed p.F3380 0.259 13 0.000 9 0.778 1 100% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32020526 32020526 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019105.6 -1 reviewed p.P3010 0.001 3 0.000 7 0.857 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TAP1 6890 genome.wustl.edu 37 6 32815418 32815418 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000593.5 -1 reviewed p.G652E 1.000 152 0% 114 39.5% 37 29.7% probably_damaging(0.98) deleterious(0.05) deleterious(0.769) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 COL11A2 1302 genome.wustl.edu 37 6 33134885 33134885 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080680.2 -1 reviewed p.P1398S 1.000 21 0% 18 22.2% 0 - unknown(0) deleterious(0.01) - HMMPfam_Collagen COL11A2 1302 genome.wustl.edu 37 6 33156951 33156951 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080680.2 -1 reviewed p.D83Y 1.000 28 0% 30 40% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00282,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases HSD17B8 7923 genome.wustl.edu 37 6 33173013 33173013 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014234.3 +1 reviewed p.P96S 1.000 30 0% 25 48% 63 60.3% possibly_damaging(0.611) tolerated(0.83) neutral(0.212) HMMPfam_adh_short,superfamily_NAD(P)-bd VPS52 6293 genome.wustl.edu 37 6 33231597 33231597 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022553.4 -1 reviewed p.Q560H 1.000 68 0% 51 35.3% 56 32.1% benign(0.044) deleterious(0.01) neutral(0.408) HMMPfam_Vps52 VPS52 6293 genome.wustl.edu 37 6 33235079 33235079 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022553.4 -1 reviewed p.S337 0.963 40 0% 37 54.1% 45 71.1% - - - HMMPfam_Vps52 WDR46 9277 genome.wustl.edu 37 6 33254640 33254640 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005452.5 -1 validated p.K349 1.000 131 0% 109 39.4% 78 39.7% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RGL2 5863 genome.wustl.edu 37 6 33260281 33260281 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004761.3 -1 validated p.V683A 1.000 50 0% 59 10.2% 93 10.7% benign(0.016) tolerated(1) neutral(0.001) HMMPfam_RA,HMMSmart_SM00314,superfamily_Ubiquitin-like DAXX 1616 genome.wustl.edu 37 6 33287935 33287935 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001141970.1 -1 reviewed p.D452N 0.768 95 0% 98 16.3% 68 16.1% unknown(0) tolerated(0.15) - HMMPfam_Daxx KIFC1 3833 genome.wustl.edu 37 6 33373280 33373280 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002263.3 +1 validated p.R470W 0.989 10 0.000 8 0.500 68 42.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KIFC1 3833 genome.wustl.edu 37 6 33374644 33374644 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002263.3 +1 validated p.A657T 1.000 112 0% 62 37.1% 131 38.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 SYNGAP1 8831 genome.wustl.edu 37 6 33405525 33405525 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006772.2 +1 reviewed p.Y281* 1.000 19 0% 21 47.6% 6 100% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like SYNGAP1 8831 genome.wustl.edu 37 6 33412369 33412369 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006772.2 +1 reviewed p.S1186L 0.991 44 0% 50 54% 13 76.9% possibly_damaging(0.807) tolerated(0.06) deleterious(0.627) NULL ITPR3 3710 genome.wustl.edu 37 6 33626588 33626588 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002224.2 +1 validated p.R171W 1.000 7 0.000 22 0.500 30 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ins145_P3_rec ITPR3 3710 genome.wustl.edu 37 6 33641984 33641984 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002224.2 +1 validated e24-1 1.000 48 0% 58 10.3% 0 - - - - - LEMD2 221496 genome.wustl.edu 37 6 33747939 33747939 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000442696 -1 known p.P182H 0.013 60 1.7% 62 40.3% 45 51.1% - - - NULL GRM4 2914 genome.wustl.edu 37 6 34026880 34026880 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000841.1 -1 reviewed p.A300T 0.999 11 0% 17 52.9% 0 - benign(0.368) tolerated(0.37) neutral(0.136) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM4 2914 genome.wustl.edu 37 6 34100921 34100921 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000841.1 -1 reviewed p.Q118R 1.000 8 0.000 17 0.412 0 - possibly_damaging(0.51) deleterious(0.03) deleterious(0.535) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I UHRF1BP1 54887 genome.wustl.edu 37 6 34802535 34802535 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017754.3 +1 validated p.R189Q 1.000 194 0% 114 45.6% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UHRF1BP1 54887 genome.wustl.edu 37 6 34827178 34827178 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017754.3 +1 validated p.E1015D 0.984 30 0% 17 23.5% 9 11.1% probably_damaging(0.999) tolerated(0.22) deleterious(0.532) NULL ANKS1A 23294 genome.wustl.edu 37 6 35054097 35054097 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000373990 +1 known p.T444 1.000 15 0% 14 28.6% 0 - - - - NULL TCP11 6954 genome.wustl.edu 37 6 35088749 35088749 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001093728.1 -1 validated p.L231M 0.998 237 0% 121 47.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Tcp11 SCUBE3 222663 genome.wustl.edu 37 6 35207577 35207577 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152753.2 +1 provisional p.R293H 1.000 57 0% 47 10.6% 2 0% probably_damaging(1) tolerated(0.08) deleterious(0.800) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin ZNF76 7629 genome.wustl.edu 37 6 35260719 35260719 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003427.3 +1 provisional p.E409D 0.994 21 0% 28 46.4% 51 52.9% benign(0.001) deleterious(0.03) neutral(0.364) NULL PPARD 5467 genome.wustl.edu 37 6 35387963 35387963 + Missense_Mutation SNP G G A rs112959486 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006238.4 +1 reviewed p.G64R 1.000 17 0% 26 30.8% 21 42.8% benign(0.308) tolerated(0.06) neutral(0.418) NULL PPARD 5467 genome.wustl.edu 37 6 35393814 35393814 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006238.4 +1 reviewed p.S428 0.949 22 0% 23 43.5% 57 38.5% - - - HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain FKBP5 2289 genome.wustl.edu 37 6 35547913 35547913 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145775.1 -1 reviewed p.S309L 0.324 229 0% 101 59.4% 8 37.5% benign(0.036) tolerated(0.28) neutral(0.034) superfamily_TPR-like SRPK1 6732 genome.wustl.edu 37 6 35888113 35888113 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000507909 -1 known p.G7R 0.000 59 1.7% 71 32.4% 0 - unknown(0) - - NULL SLC26A8 116369 genome.wustl.edu 37 6 35987433 35987433 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052961.2 -1 reviewed p.R18* 0.002 145 0% 102 41.2% 0 - - - - NULL BRPF3 27154 genome.wustl.edu 37 6 36175167 36175167 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441123 +1 known p.G534S 0.994 34 0% 31 35.5% 13 76.9% - - - NULL BRPF3 27154 genome.wustl.edu 37 6 36196784 36196784 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015695.2 +1 validated p.A1129T 1.000 56 0% 45 48.9% 8 25% unknown(0) tolerated(0.4) - HMMPfam_PWWP,HMMSmart_PWWP,superfamily_SSF63748 PNPLA1 285848 genome.wustl.edu 37 6 36259120 36259120 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000457797 +1 known p.V77M 0.135 50 0% 33 33.3% 0 - benign(0.061) tolerated(0.58) neutral(0.009) HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like PNPLA1 285848 genome.wustl.edu 37 6 36259161 36259161 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000457797 +1 known p.L90 0.299 49 0% 42 42.9% 0 - - - - HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like PNPLA1 285848 genome.wustl.edu 37 6 36262018 36262018 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145716.1 +1 validated p.D100N 0.982 15 0% 17 58.8% 0 - probably_damaging(0.982) tolerated(0.27) neutral(0.460) NULL C6orf222 389384 genome.wustl.edu 37 6 36298254 36298254 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010903.4 -1 validated p.T72A 0.000 16 0% 15 53.3% 0 - benign(0.046) tolerated(0.54) neutral(0.010) NULL STK38 11329 genome.wustl.edu 37 6 36466210 36466210 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007271.2 -1 provisional p.N336H 1.000 362 0% 184 52.2% 18 55.5% benign(0.003) tolerated(0.14) neutral(0.249) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SRSF3 6428 genome.wustl.edu 37 6 36566643 36566643 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003017.4 +1 validated p.R75H 1.000 243 0.4% 170 12.9% 339 10% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CPNE5 57699 genome.wustl.edu 37 6 36711472 36711472 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020939.1 -1 reviewed p.I519 0.172 17 0% 19 47.4% 2 0% - - - HMMSmart_VWA,superfamily_SSF53300 CPNE5 57699 genome.wustl.edu 37 6 36766264 36766264 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020939.1 -1 reviewed p.V99I 0.999 80 0% 62 24.2% 3 33.3% benign(0.012) tolerated(1) neutral(0.001) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CPNE5 57699 genome.wustl.edu 37 6 36767835 36767835 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020939.1 -1 reviewed p.E66K 1.000 30 0% 36 50% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB C6orf89 221477 genome.wustl.edu 37 6 36882426 36882426 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152734.3 +1 validated p.W225R 1.000 123 0% 80 46.3% 25 52% benign(0.366) deleterious(0) deleterious(0.561) NULL RNF8 9025 genome.wustl.edu 37 6 37336985 37336985 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000498460 +1 known p.A112T 0.956 38 0% 22 50% 23 56.5% - - - NULL RNF8 9025 genome.wustl.edu 37 6 37358552 37358552 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183078.2 +1 reviewed p.A424V 0.001 113 0% 65 49.2% 34 50% unknown(0) - - NULL DNAH8 1769 genome.wustl.edu 37 6 38743605 38743605 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001371.2 +1 validated p.A397S 1.000 163 0% 64 32.8% 0 - benign(0) tolerated(0.5) neutral(0.010) HMMPfam_DHC_N1 DNAH8 1769 genome.wustl.edu 37 6 38749118 38749118 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001371.2 +1 validated p.R526H 0.994 115 0% 63 66.7% 0 - benign(0.309) tolerated(0.17) neutral(0.155) HMMPfam_DHC_N1 DNAH8 1769 genome.wustl.edu 37 6 38821120 38821120 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001371.2 +1 validated p.A1693 0.996 223 0.4% 110 37.3% 0 - - - - NULL DNAH8 1769 genome.wustl.edu 37 6 38825330 38825330 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001371.2 +1 validated p.D1707N 1.000 322 0% 156 39.1% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL DNAH8 1769 genome.wustl.edu 37 6 38939367 38939367 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001371.2 +1 validated e79-1 1.000 199 0% 69 30.4% 0 - - - - - KCNK16 83795 genome.wustl.edu 37 6 39283175 39283175 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135105.1 -1 reviewed p.L232I 0.000 90 0% 69 18.8% 0 - unknown(0) deleterious(0.01) - NULL KIF6 221458 genome.wustl.edu 37 6 39313529 39313529 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000458470 -1 known p.A631V 0.004 95 0% 100 51% 0 - - - - NULL KIF6 221458 genome.wustl.edu 37 6 39512337 39512337 + Missense_Mutation SNP C C T rs191227648 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145027.4 -1 validated p.E474K 1.000 662 0% 336 35.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MOCS1 4337 genome.wustl.edu 37 6 39881123 39881123 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001075098.3 -1 reviewed p.F232C 1.000 53 0% 45 15.6% 12 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 MOCS1 4337 genome.wustl.edu 37 6 39893477 39893477 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001075098.3 -1 reviewed p.K121N 1.000 12 0% 25 52% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 MOCS1 4337 genome.wustl.edu 37 6 39893509 39893509 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001075098.3 -1 reviewed p.A111T 0.998 20 0% 22 59.1% 6 33.3% probably_damaging(0.967) deleterious(0.02) deleterious(0.792) HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 LRFN2 57497 genome.wustl.edu 37 6 40400806 40400806 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020737.1 -1 provisional p.A16V 0.835 7 0.000 13 0.538 0 - benign(0.002) tolerated(0.3) neutral(0.029) NULL UNC5CL 222643 genome.wustl.edu 37 6 40998128 40998128 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173561.1 -1 provisional p.R445W 0.998 57 1.8% 50 10% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like APOBEC2 10930 genome.wustl.edu 37 6 41029409 41029409 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006789.3 +1 validated p.E158D 1.000 44 0% 23 43.5% 0 - benign(0.315) tolerated(0.18) neutral(0.154) superfamily_Cytidine deaminase-like NFYA 4800 genome.wustl.edu 37 6 41060818 41060818 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002505.4 +1 reviewed p.E294D 0.992 99 0% 65 43.1% 44 47.7% probably_damaging(0.979) deleterious(0.04) deleterious(0.771) HMMPfam_CBFB_NFYA,HMMSmart_SM00521 NFYA 4800 genome.wustl.edu 37 6 41062180 41062180 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002505.4 +1 reviewed p.R312C 1.000 168 0% 97 46.4% 51 45% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CBFB_NFYA,HMMSmart_SM00521 NFYA 4800 genome.wustl.edu 37 6 41065119 41065119 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002505.4 +1 reviewed p.E338D 1.000 155 0% 93 49.5% 45 46.6% benign(0.001) tolerated(0.17) neutral(0.059) NULL TREM2 54209 genome.wustl.edu 37 6 41126497 41126497 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000373122 -1 known p.E168D 0.132 83 0% 82 31.7% 8 0% benign(0.092) - - NULL TREM2 54209 genome.wustl.edu 37 6 41129057 41129057 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018965.2 -1 reviewed p.S112N 0.176 29 0% 24 50% 3 0% possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) HMMPfam_V-set,superfamily_Immunoglobulin TREM1 54210 genome.wustl.edu 37 6 41250161 41250161 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018643.2 -1 provisional p.F126 0.000 29 0% 29 17.2% 2 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin TREM1 54210 genome.wustl.edu 37 6 41250427 41250427 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018643.2 -1 provisional p.D38N 0.000 160 0% 91 57.1% 1 0% benign(0.001) tolerated(1) - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin FOXP4 116113 genome.wustl.edu 37 6 41555186 41555186 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012426.1 +1 reviewed p.P270S 1.000 8 0.000 25 0.440 49 44.8% probably_damaging(0.988) tolerated(0.32) neutral(0.462) NULL PGC 5225 genome.wustl.edu 37 6 41704667 41704667 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002630.3 -1 reviewed p.G364R 0.999 22 0% 34 14.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Asp,superfamily_Pept_Aspartic USP49 25862 genome.wustl.edu 37 6 41773934 41773934 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018561.3 -1 provisional p.Y263C 1.000 5 0.000 6 0.833 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_Cysteine proteinases CCND3 896 genome.wustl.edu 37 6 41904973 41904973 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000510503 -1 known p.G111* 1.000 34 0% 22 40.9% 46 26% - - - NULL ENSG00000206875 0 genome.wustl.edu 37 6 41986153 41986153 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000384148 -1 novel NULL 0.014 81 0% 23 34.8% 0 - - - - - UBR2 23304 genome.wustl.edu 37 6 42582821 42582821 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015255.2 +1 reviewed p.R333Q 1.000 375 0% 190 35.8% 5 40% benign(0.158) tolerated(0.6) neutral(0.018) NULL PRPH2 5961 genome.wustl.edu 37 6 42666223 42666223 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000322.4 -1 reviewed p.R284H 1.000 71 0% 58 39.7% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tetraspannin PRPH2 5961 genome.wustl.edu 37 6 42666236 42666236 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000322.4 -1 reviewed p.T280P 0.924 69 0% 65 56.9% 4 75% benign(0.367) deleterious(0.01) deleterious(0.522) HMMPfam_Tetraspannin KIAA0240 23506 genome.wustl.edu 37 6 42797389 42797389 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015349.1 +1 validated p.E440* 1.000 72 0% 56 21.4% 5 20% - - - NULL KIAA0240 23506 genome.wustl.edu 37 6 42828012 42828012 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015349.1 +1 validated p.F756S 1.000 348 0% 138 44.2% 7 28.5% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL CNPY3 10695 genome.wustl.edu 37 6 42905542 42905542 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006586.3 +1 validated p.E154K 1.000 41 0% 25 72% 76 34.2% probably_damaging(0.996) tolerated(0.51) deleterious(0.471) NULL PEX6 5190 genome.wustl.edu 37 6 42934070 42934070 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000287.3 -1 reviewed p.R737H 1.000 17 0% 19 42.1% 30 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases PPP2R5D 5528 genome.wustl.edu 37 6 42974215 42974215 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000230402 +1 known p.P46R 0.179 20 0% 33 33.3% 27 33.3% unknown(0) deleterious(0) - NULL CUL9 23113 genome.wustl.edu 37 6 43153727 43153727 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015089.2 +1 validated p.R262H 1.000 15 0% 23 43.5% 5 60% unknown(0) deleterious(0) - NULL CUL9 23113 genome.wustl.edu 37 6 43174224 43174224 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015089.2 +1 validated p.R1730C 0.895 160 0% 104 33.7% 10 30% benign(0.002) tolerated(0.23) neutral(0.042) HMMPfam_Cullin,superfamily_Cullin homology domain CUL9 23113 genome.wustl.edu 37 6 43181016 43181016 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015089.2 +1 validated p.K1781T 1.000 41 0% 32 37.5% 8 50% benign(0) tolerated(0.08) neutral(0.300) HMMPfam_Cullin,superfamily_Cullin homology domain CUL9 23113 genome.wustl.edu 37 6 43190597 43190597 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015089.2 +1 validated p.N2371 1.000 28 0% 18 27.8% 16 18.7% - - - NULL TTBK1 84630 genome.wustl.edu 37 6 43226790 43226790 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032538.1 +1 validated p.T344M 1.000 18 0% 12 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DLK2 65989 genome.wustl.edu 37 6 43419757 43419757 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023932.2 -1 validated p.G113S 0.995 28 0% 31 71% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin YIPF3 25844 genome.wustl.edu 37 6 43481360 43481360 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015388.3 -1 validated p.S136Y 1.000 50 0% 44 56.8% 188 52.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Yip1 TMEM63B 55362 genome.wustl.edu 37 6 44107240 44107240 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018426.1 +1 validated p.A148 0.028 54 0% 39 10.3% 43 18.6% - - - NULL TMEM63B 55362 genome.wustl.edu 37 6 44121465 44121465 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018426.1 +1 validated p.Y665 1.000 13 0% 20 30% 64 45.3% - - - HMMPfam_DUF221 TMEM63B 55362 genome.wustl.edu 37 6 44121578 44121578 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018426.1 +1 validated p.T703M 0.724 14 0% 19 42.1% 128 40.6% benign(0.073) tolerated(0.22) neutral(0.047) HMMPfam_DUF221 TMEM63B 55362 genome.wustl.edu 37 6 44122447 44122447 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018426.1 +1 validated p.L776 1.000 17 0% 20 45% 85 42.3% - - - NULL CAPN11 11131 genome.wustl.edu 37 6 44144023 44144023 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007058.3 +1 reviewed p.R317W 0.996 56 0% 59 45.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 CAPN11 11131 genome.wustl.edu 37 6 44147733 44147733 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007058.3 +1 reviewed p.T491 0.000 45 2.2% 53 62.3% 0 - - - - HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 SLC29A1 2030 genome.wustl.edu 37 6 44197392 44197392 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001078174.1 +1 reviewed p.A60T 0.000 70 0% 60 28.3% 28 50% benign(0) tolerated(0.84) neutral(0.001) NULL HSP90AB1 3326 genome.wustl.edu 37 6 44217120 44217120 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007355.2 +1 provisional p.D52N 1.000 100 0% 83 43.4% 971 52.4% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase NFKBIE 4794 genome.wustl.edu 37 6 44232907 44232907 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004556.2 -1 validated p.Q198H 0.004 19 0% 24 45.8% 15 60% possibly_damaging(0.828) deleterious(0.01) deleterious(0.720) NULL TCTE1 202500 genome.wustl.edu 37 6 44255444 44255444 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182539.3 -1 validated p.P40H 0.000 82 0% 77 37.7% 0 - benign(0.003) tolerated(0.33) neutral(0.024) NULL AARS2 57505 genome.wustl.edu 37 6 44272437 44272437 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020745.2 -1 validated p.A566V 0.995 17 0% 22 36.4% 20 40% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_tRNA-synt_2c CDC5L 988 genome.wustl.edu 37 6 44413535 44413535 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001253.2 +1 reviewed p.A745 0.171 263 0% 104 51.9% 47 40.4% - - - NULL RUNX2 860 genome.wustl.edu 37 6 45399640 45399640 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024630.3 +1 reviewed p.T223I 1.000 141 0% 79 16.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P53_like_DNA_bnd,HMMPfam_Runt RUNX2 860 genome.wustl.edu 37 6 45514809 45514809 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024630.3 +1 reviewed p.L513I 1.000 124 0% 73 30.1% 1 100% probably_damaging(0.987) tolerated(0.25) deleterious(0.473) HMMPfam_RunxI RCAN2 10231 genome.wustl.edu 37 6 46214583 46214583 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005822.2 -1 validated p.S112L 1.000 52 0% 22 27.3% 1 0% possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMPfam_Calcipressin CYP39A1 51302 genome.wustl.edu 37 6 46593195 46593195 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016593.3 -1 reviewed p.K297N 0.672 287 0% 110 46.4% 9 33.3% possibly_damaging(0.639) tolerated(0.06) deleterious(0.546) HMMPfam_p450,superfamily_Cytochrome P450 SLC25A27 9481 genome.wustl.edu 37 6 46623614 46623614 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004277.3 +1 reviewed p.L47 1.000 85 0% 71 46.5% 3 66.6% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SLC25A27 9481 genome.wustl.edu 37 6 46632515 46632515 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004277.3 +1 reviewed p.R171C 1.000 262 0% 124 46.8% 6 100% probably_damaging(0.991) tolerated(0.09) deleterious(0.740) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr TDRD6 221400 genome.wustl.edu 37 6 46659771 46659771 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010870.2 +1 validated p.M1302I 0.001 88 0% 55 45.5% 0 - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_TUDOR PLA2G7 7941 genome.wustl.edu 37 6 46679243 46679243 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005084.3 -1 reviewed p.R218Q 0.495 474 0% 232 37.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAF-AH_p_II,superfamily_SSF53474 MEP1A 4224 genome.wustl.edu 37 6 46802315 46802315 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005588.2 +1 validated p.A537V 0.004 104 0% 61 50.8% 0 - benign(0.121) tolerated(0.05) neutral(0.355) HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like GPR116 221395 genome.wustl.edu 37 6 46821736 46821736 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098518.1 -1 validated p.L1345H 1.000 190 0% 121 10.7% 4 0% unknown(0) deleterious(0) - NULL GPR116 221395 genome.wustl.edu 37 6 46832915 46832915 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098518.1 -1 validated p.K618 0.335 386 0% 199 50.3% 1 0% - - - NULL GPR116 221395 genome.wustl.edu 37 6 46847598 46847598 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098518.1 -1 validated p.S331 0.000 133 0% 81 37% 3 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin TNFRSF21 27242 genome.wustl.edu 37 6 47254171 47254171 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014452.3 -1 reviewed p.R86H 1.000 32 0% 27 40.7% 47 36.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_TNFR,superfamily_SSF57586 CD2AP 23607 genome.wustl.edu 37 6 47471115 47471115 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012120.2 +1 reviewed p.E35G 1.000 364 0% 244 46.7% 11 54.5% probably_damaging(0.999) tolerated(0.27) deleterious(0.524) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 GPR115 221393 genome.wustl.edu 37 6 47675041 47675041 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153838.3 +1 validated p.E20D 0.835 283 0% 91 41.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL OPN5 221391 genome.wustl.edu 37 6 47775895 47775895 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181744.2 +1 reviewed p.A254 0.265 265 0% 128 34.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 PTCHD4 442213 genome.wustl.edu 37 6 47846815 47846815 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013732.3 -1 validated p.R572* 0.998 132 0% 44 45.5% 0 - - - - HMMPfam_Patched MUT 4594 genome.wustl.edu 37 6 49421439 49421439 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000255.3 -1 reviewed p.N314K 1.000 274 0% 90 48.9% 15 86.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MM_CoA_mutase,superfamily_Cobalamin (vitamin B12)-dependent enzymes RHAG 6005 genome.wustl.edu 37 6 49583449 49583449 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000324.2 -1 reviewed p.A176 0.994 137 0% 80 37.5% 0 - - - - HMMPfam_Ammonium_transp,superfamily_RH_like_transpt CRISP2 7180 genome.wustl.edu 37 6 49666153 49666153 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142407.1 -1 validated p.S113 0.854 147 0% 67 38.8% 0 - - - - HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like CRISP3 10321 genome.wustl.edu 37 6 49698888 49698888 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006061.1 -1 provisional p.D200N 0.965 178 0% 72 51.4% 0 - benign(0.002) tolerated(1) - HMMPfam_Crisp TFAP2D 83741 genome.wustl.edu 37 6 50681799 50681799 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172238.3 +1 validated p.D11N 1.000 86 0% 58 39.7% 0 - possibly_damaging(0.847) deleterious(0.01) deleterious(0.731) NULL TFAP2D 83741 genome.wustl.edu 37 6 50712951 50712951 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172238.3 +1 validated p.L339M 1.000 173 0% 57 47.4% 0 - benign(0.429) deleterious(0.02) deleterious(0.522) HMMPfam_TF_AP-2 PKHD1 5314 genome.wustl.edu 37 6 51768510 51768510 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138694.3 -1 reviewed p.G2294E 0.989 127 0% 42 38.1% 0 - benign(0.391) deleterious(0.03) deleterious(0.490) HMMSmart_SM00710,superfamily_Pectin lyase-like PKHD1 5314 genome.wustl.edu 37 6 51875241 51875241 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138694.3 -1 reviewed p.D1873Y 1.000 250 0% 118 53.4% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL PKHD1 5314 genome.wustl.edu 37 6 51913390 51913390 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138694.3 -1 reviewed p.E769D 0.000 72 0% 44 18.2% 0 - benign(0.002) tolerated(0.67) neutral(0.003) NULL MCM3 4172 genome.wustl.edu 37 6 52132735 52132735 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002388.3 -1 reviewed p.R667Q 0.953 607 0% 529 11.3% 119 7.5% benign(0.148) tolerated(0.07) neutral(0.332) superfamily_SSF52540 MCM3 4172 genome.wustl.edu 37 6 52138633 52138633 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002388.3 -1 reviewed p.L486 1.000 49 0% 42 31% 130 35.3% - - - HMMPfam_MCM,HMMSmart_MCM,HMMSmart_AAA,superfamily_SSF52540 MCM3 4172 genome.wustl.edu 37 6 52143609 52143609 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002388.3 -1 reviewed p.K270N 1.000 161 0% 101 50.5% 72 47.2% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMSmart_MCM MCM3 4172 genome.wustl.edu 37 6 52147572 52147572 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002388.3 -1 reviewed p.K93N 1.000 45 0% 41 46.3% 74 41.8% possibly_damaging(0.51) tolerated(0.08) deleterious(0.471) superfamily_Nucleic_acid_OB TRAM2 9697 genome.wustl.edu 37 6 52372408 52372408 + Missense_Mutation SNP C C T rs189107930 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012288.3 -1 reviewed p.R190H 1.000 117 0% 83 50.6% 4 50% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 TRAM2 9697 genome.wustl.edu 37 6 52441635 52441635 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012288.3 -1 reviewed p.F27V 1.000 13 0% 13 46.2% 8 37.5% probably_damaging(0.957) deleterious(0.04) deleterious(0.750) NULL GSTA4 2941 genome.wustl.edu 37 6 52849385 52849385 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001512.3 -1 reviewed p.E97D 1.000 185 0% 82 47.6% 36 33.3% possibly_damaging(0.711) tolerated(0.11) deleterious(0.528) superfamily_Glutathione S-transferase (GST) C-terminal domain ICK 22858 genome.wustl.edu 37 6 52878505 52878505 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014920.3 -1 reviewed p.P369 0.005 156 0% 121 49.6% 14 28.5% - - - NULL ELOVL5 60481 genome.wustl.edu 37 6 53140017 53140017 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021814.3 -1 provisional p.E123* 1.000 174 0% 108 56.5% 60 6.6% - - - HMMPfam_ELO GCLC 2729 genome.wustl.edu 37 6 53372343 53372343 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001498.2 -1 reviewed p.G340D 1.000 454 0% 202 43.1% 24 45.8% possibly_damaging(0.804) tolerated(0.64) neutral(0.305) HMMPfam_GCS,superfamily_Glutamine synthetase/guanido kinase LRRC1 55227 genome.wustl.edu 37 6 53785434 53785434 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018214.4 +1 validated p.R431C 1.000 103 0% 77 49.4% 41 51.2% probably_damaging(0.973) tolerated(0.07) deleterious(0.734) NULL MLIP 90523 genome.wustl.edu 37 6 54130753 54130753 + Nonstop_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138569.2 +1 validated p.*459C 1.000 167 0% 41 22% 0 - - - - NULL HCRTR2 3062 genome.wustl.edu 37 6 55039539 55039539 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001526.3 +1 reviewed p.E52* 1.000 85 0% 71 29.6% 1 0% - - - superfamily_SSF81321 COL21A1 81578 genome.wustl.edu 37 6 56044581 56044581 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030820.3 -1 reviewed p.G145 0.725 124 0% 96 46.9% 37 48.6% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like DST 667 genome.wustl.edu 37 6 56336875 56336875 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015548.4 -1 reviewed p.A4757 0.781 242 0% 116 49.1% 33 42.4% - - - superfamily_EF-hand DST 667 genome.wustl.edu 37 6 56417413 56417413 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015548.4 -1 reviewed p.E2770* 1.000 98 0% 64 56.2% 1 100% - - - HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56417618 56417618 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015548.4 -1 reviewed p.A2701 0.310 96 0% 44 38.6% 3 0% - - - superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56469055 56469055 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000370769 -1 known p.K3246N 0.003 167 0% 42 61.9% 0 - possibly_damaging(0.886) deleterious(0) deleterious(0.791) NULL DST 667 genome.wustl.edu 37 6 56470240 56470240 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000370769 -1 known p.V2851 0.000 523 0% 141 47.5% 1 0% - - - NULL DST 667 genome.wustl.edu 37 6 56470767 56470767 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000370769 -1 known p.N2676D 0.041 455 0% 176 49.4% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL DST 667 genome.wustl.edu 37 6 56473941 56473941 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000370769 -1 known p.E1618* 1.000 274 0% 110 50.9% 0 - - - - HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat DST 667 genome.wustl.edu 37 6 56481832 56481832 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001723.5 -1 reviewed p.E2145* 1.000 109 0% 62 35.5% 2 100% - - - HMMSmart_PLEC,superfamily_SSF75399 DST 667 genome.wustl.edu 37 6 56496033 56496033 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015548.4 -1 reviewed p.S836Y 1.000 212 0% 122 46.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56499717 56499717 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015548.4 -1 reviewed p.T537I 0.993 578 0.3% 286 25.5% 2 0% possibly_damaging(0.918) tolerated(0.1) deleterious(0.655) superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56507223 56507223 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015548.4 -1 reviewed p.G82 0.112 166 0% 83 48.2% 0 - - - - NULL BEND6 221336 genome.wustl.edu 37 6 56880153 56880153 + Splice_Site SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152731.2 +1 validated e3+2 0.735 141 0% 59 37.3% 0 - - - - - KIAA1586 57691 genome.wustl.edu 37 6 56918562 56918562 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020931.2 +1 validated p.R422Q 0.989 136 0% 68 48.5% 2 0% possibly_damaging(0.748) tolerated(0.33) neutral(0.299) NULL ZNF451 26036 genome.wustl.edu 37 6 57013438 57013438 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031623.2 +1 validated p.K852T 0.015 70 0% 29 58.6% 14 50% benign(0.01) deleterious(0.01) neutral(0.406) NULL RAB23 51715 genome.wustl.edu 37 6 57072499 57072499 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016277.3 -1 reviewed p.E56 1.000 355 0% 155 20% 6 16.6% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases KHDRBS2 202559 genome.wustl.edu 37 6 62887090 62887090 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152688.2 -1 validated p.K73N 1.000 584 0% 109 12.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 KHDRBS2 202559 genome.wustl.edu 37 6 62887168 62887168 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152688.2 -1 validated p.K47N 1.000 741 0% 151 51% 0 - benign(0.389) tolerated(0.49) neutral(0.135) NULL LGSN 51557 genome.wustl.edu 37 6 63990359 63990359 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016571.2 -1 reviewed p.R366Q 0.988 255 0% 125 56.8% 0 - probably_damaging(1) tolerated(0.36) deleterious(0.520) HMMPfam_Gln-synt_C,superfamily_Glutamine synthetase/guanido kinase PTP4A1 7803 genome.wustl.edu 37 6 64289210 64289210 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003463.3 +1 reviewed p.Y126 0.785 346 0% 135 49.6% 122 54% - - - HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PHF3 23469 genome.wustl.edu 37 6 64390064 64390064 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015153.2 +1 provisional e2+2 1.000 235 0% 111 37.8% 0 - - - - - PHF3 23469 genome.wustl.edu 37 6 64423084 64423084 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015153.2 +1 provisional p.R1867H 0.704 123 0% 66 40.9% 36 41.6% benign(0.007) deleterious(0.02) neutral(0.383) NULL PHF3 23469 genome.wustl.edu 37 6 64423279 64423279 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015153.2 +1 provisional p.R1932K 1.000 90 0% 54 33.3% 42 30.9% benign(0.001) tolerated(0.37) neutral(0.019) NULL EYS 346007 genome.wustl.edu 37 6 64431659 64431659 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142800.1 -1 reviewed p.S2756 1.000 287 0% 93 55.9% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EYS 346007 genome.wustl.edu 37 6 64499045 64499045 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142800.1 -1 reviewed p.S2495Y 1.000 48 0% 44 38.6% 0 - probably_damaging(0.991) - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EYS 346007 genome.wustl.edu 37 6 65300858 65300858 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142800.1 -1 reviewed p.K1634N 0.656 177 0.6% 46 54.3% 0 - benign(0.043) - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 66204814 66204814 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142800.1 -1 reviewed p.R164* 0.768 79 0% 49 36.7% 0 - - - - NULL EYS 346007 genome.wustl.edu 37 6 66205284 66205284 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142800.1 -1 reviewed p.V7A 0.000 89 0% 58 55.2% 0 - benign(0) - - NULL BAI3 577 genome.wustl.edu 37 6 70064183 70064183 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001704.2 +1 reviewed p.S1173Y 1.000 295 0% 119 52.1% 1 100% possibly_damaging(0.703) deleterious(0) deleterious(0.697) NULL COL9A1 1297 genome.wustl.edu 37 6 70935713 70935713 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001851.4 -1 reviewed e37-1 1.000 78 0% 33 42.4% 0 - - - - - FAM135A 57579 genome.wustl.edu 37 6 71185396 71185396 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105531.2 +1 validated p.L110I 1.000 377 0% 107 41.1% 2 0% possibly_damaging(0.923) tolerated(0.21) neutral(0.416) NULL FAM135A 57579 genome.wustl.edu 37 6 71235253 71235253 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105531.2 +1 validated p.H626Q 1.000 92 0% 54 18.5% 5 20% possibly_damaging(0.926) tolerated(0.1) deleterious(0.661) NULL FAM135A 57579 genome.wustl.edu 37 6 71235335 71235335 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105531.2 +1 validated p.S654P 1.000 112 0.9% 55 40% 9 44.4% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SMAP1 60682 genome.wustl.edu 37 6 71508408 71508408 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001044305.1 +1 reviewed p.E182* 1.000 254 0% 153 35.9% 1 0% - - - NULL OGFRL1 79627 genome.wustl.edu 37 6 72011538 72011538 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024576.3 +1 validated p.S381N 0.001 84 0% 53 9.4% 13 7.6% benign(0.312) tolerated(0.43) neutral(0.111) NULL RIMS1 22999 genome.wustl.edu 37 6 72889303 72889303 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014989.4 +1 reviewed p.R166Q 1.000 70 0% 55 32.7% 0 - possibly_damaging(0.855) tolerated(0.09) deleterious(0.627) superfamily_FYVE/PHD zinc finger RIMS1 22999 genome.wustl.edu 37 6 72960729 72960729 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014989.4 +1 reviewed p.R826 0.941 456 0% 156 34.6% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RIMS1 22999 genome.wustl.edu 37 6 72962473 72962473 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014989.4 +1 reviewed p.R903Q 1.000 296 0% 115 43.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL RIMS1 22999 genome.wustl.edu 37 6 73001696 73001696 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014989.4 +1 reviewed p.R1266H 0.633 46 0% 13 38.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LOC100128859 100128859 genome.wustl.edu 37 6 74079531 74079531 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001714576.1 +1 model p.P62L 0.000 7 0.000 10 0.400 0 - - - - NULL DDX43 55510 genome.wustl.edu 37 6 74117794 74117794 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018665.2 +1 reviewed p.N383K 1.000 298 0% 167 37.1% 1 0% benign(0.046) tolerated(0.13) neutral(0.255) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 EEF1A1 1915 genome.wustl.edu 37 6 74228120 74228120 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001402.5 -1 reviewed p.S329N 1.000 85 0% 59 57.6% 4359 48.1% possibly_damaging(0.764) deleterious(0) deleterious(0.728) superfamily_Translation proteins CD109 135228 genome.wustl.edu 37 6 74475755 74475755 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133493.3 +1 reviewed p.G404R 0.000 251 0% 122 50% 3 33.3% benign(0) tolerated(0.36) neutral(0.020) NULL CD109 135228 genome.wustl.edu 37 6 74524750 74524750 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133493.3 +1 reviewed p.R1272Q 0.000 464 0% 136 58.1% 3 100% benign(0.052) tolerated(0.2) neutral(0.052) NULL COL12A1 1303 genome.wustl.edu 37 6 75799840 75799840 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004370.5 -1 reviewed p.P2976H 0.841 22 0% 29 34.5% 75 40% unknown(0) - - HMMPfam_Collagen COL12A1 1303 genome.wustl.edu 37 6 75806969 75806969 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004370.5 -1 reviewed p.P2859 1.000 225 0% 184 45.1% 41 24.3% - - - HMMPfam_Collagen COL12A1 1303 genome.wustl.edu 37 6 75815005 75815005 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004370.5 -1 reviewed p.D2728Y 1.000 60 0% 31 54.8% 44 29.5% probably_damaging(0.997) - - NULL COL12A1 1303 genome.wustl.edu 37 6 75818809 75818809 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004370.5 -1 reviewed p.K2675N 0.997 404 0% 106 43.4% 34 26.4% possibly_damaging(0.619) - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases COL12A1 1303 genome.wustl.edu 37 6 75838103 75838103 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004370.5 -1 reviewed p.Q2083 1.000 262 0% 95 46.3% 29 24.1% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COL12A1 1303 genome.wustl.edu 37 6 75901442 75901442 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004370.5 -1 reviewed p.K123N 1.000 616 0% 216 49.5% 10 30% possibly_damaging(0.701) - - NULL FILIP1 27145 genome.wustl.edu 37 6 76024698 76024698 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015687.2 -1 validated p.A284T 0.987 556 0% 277 37.5% 6 33.3% benign(0.004) tolerated(0.68) neutral(0.002) HMMPfam_CortBP2 SENP6 26054 genome.wustl.edu 37 6 76419319 76419319 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015571.2 +1 validated p.V931 0.565 287 0% 130 40.8% 82 48.7% - - - HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases IMPG1 3617 genome.wustl.edu 37 6 76751825 76751825 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001563.2 -1 provisional p.Y29C 0.002 473 0% 174 45.4% 0 - possibly_damaging(0.944) tolerated(0.16) neutral(0.448) NULL PHIP 55023 genome.wustl.edu 37 6 79650576 79650576 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017934.5 -1 validated p.R1767K 1.000 337 0% 145 35.2% 14 35.7% benign(0.181) tolerated(0.71) neutral(0.018) NULL PHIP 55023 genome.wustl.edu 37 6 79668221 79668221 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017934.5 -1 validated p.F1251 1.000 203 0% 64 64.1% 5 60% - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain PHIP 55023 genome.wustl.edu 37 6 79680569 79680569 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017934.5 -1 validated p.E976K 1.000 763 0.1% 453 50.8% 9 55.5% benign(0.025) tolerated(0.11) neutral(0.273) NULL PHIP 55023 genome.wustl.edu 37 6 79726309 79726309 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017934.5 -1 validated p.R396Q 1.000 322 0% 142 45.1% 9 55.5% probably_damaging(0.988) tolerated(0.84) neutral(0.438) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase PHIP 55023 genome.wustl.edu 37 6 79735285 79735285 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017934.5 -1 validated p.D292Y 1.000 140 0% 84 20.2% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 LCA5 167691 genome.wustl.edu 37 6 80223347 80223347 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122769.2 -1 reviewed p.T101I 1.000 98 0% 42 11.9% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL LCA5 167691 genome.wustl.edu 37 6 80223354 80223354 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122769.2 -1 reviewed p.L99I 0.982 91 0% 42 40.5% 0 - benign(0.224) tolerated(0.22) neutral(0.064) NULL ELOVL4 6785 genome.wustl.edu 37 6 80626485 80626485 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022726.3 -1 reviewed p.F262C 1.000 307 0.3% 168 58.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELO TTK 7272 genome.wustl.edu 37 6 80717677 80717677 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003318.4 +1 reviewed p.A97 0.970 132 0% 81 37% 8 75% - - - NULL TTK 7272 genome.wustl.edu 37 6 80744707 80744707 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003318.4 +1 reviewed p.F540L 1.000 221 0% 56 41.1% 13 23% possibly_damaging(0.556) deleterious(0.01) deleterious(0.595) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase BCKDHB 594 genome.wustl.edu 37 6 80877486 80877486 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000056.3 +1 reviewed p.A145 0.058 209 0% 89 39.3% 14 14.2% - - - HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) BCKDHB 594 genome.wustl.edu 37 6 80878614 80878614 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000056.3 +1 reviewed p.Y167C 1.000 232 0% 102 46.1% 6 83.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) UBE3D 90025 genome.wustl.edu 37 6 83667079 83667079 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198920.1 -1 provisional p.K367N 0.112 73 0% 43 39.5% 5 80% benign(0.261) tolerated(0.33) neutral(0.051) HMMPfam_DUF2351 DOPEY1 23033 genome.wustl.edu 37 6 83848697 83848697 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015018.2 +1 validated p.R1646* 0.990 51 0% 24 45.8% 2 0% - - - NULL DOPEY1 23033 genome.wustl.edu 37 6 83872621 83872621 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015018.2 +1 validated p.L2359I 1.000 330 0% 141 55.3% 17 70.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL DOPEY1 23033 genome.wustl.edu 37 6 83877728 83877728 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015018.2 +1 validated p.R2414* 1.000 73 0% 40 35% 38 23.6% - - - NULL ME1 4199 genome.wustl.edu 37 6 83937104 83937104 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002395.4 -1 reviewed p.P409S 1.000 246 0% 141 42.6% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Malic_M,superfamily_NAD(P)-bd ME1 4199 genome.wustl.edu 37 6 84117531 84117531 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002395.4 -1 reviewed p.L56 0.954 338 0% 153 47.1% 0 - - - - superfamily_SSF53223 SNAP91 9892 genome.wustl.edu 37 6 84300942 84300942 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014841.2 -1 validated p.D668N 1.000 143 0% 85 38.8% 1 100% probably_damaging(0.998) tolerated(0.48) deleterious(0.485) NULL CYB5R4 51167 genome.wustl.edu 37 6 84646064 84646064 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016230.3 +1 validated p.L359 0.991 217 0% 93 51.6% 6 66.6% - - - HMMPfam_FAD_binding_6,superfamily_Riboflavin_synthase_like_b-brl TBX18 9096 genome.wustl.edu 37 6 85446783 85446783 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080508.1 -1 provisional p.Q482* 1.000 66 0% 54 37% 55 47.2% - - - NULL TBX18 9096 genome.wustl.edu 37 6 85446893 85446893 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080508.1 -1 provisional p.A445V 0.991 51 0% 49 46.9% 58 43.1% benign(0.006) tolerated(0.06) neutral(0.323) NULL TBX18 9096 genome.wustl.edu 37 6 85466461 85466461 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080508.1 -1 provisional p.F242 0.177 40 0% 25 28% 57 42.1% - - - HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2 SNX14 57231 genome.wustl.edu 37 6 86239986 86239986 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153816.3 -1 reviewed p.H606 1.000 263 0% 120 49.2% 22 54.5% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain SYNCRIP 10492 genome.wustl.edu 37 6 86329047 86329047 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006372.4 -1 validated p.R366Q 1.000 430 0% 217 42.4% 121 37.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZNF292 23036 genome.wustl.edu 37 6 87964998 87964998 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015021.1 +1 validated p.F551V 1.000 272 0% 120 45% 12 75% possibly_damaging(0.485) tolerated(0.13) neutral(0.413) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF292 23036 genome.wustl.edu 37 6 87967866 87967866 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015021.1 +1 validated p.E1507K 0.980 65 0% 36 47.2% 26 57.6% benign(0.056) deleterious(0) neutral(0.448) NULL ZNF292 23036 genome.wustl.edu 37 6 87969797 87969797 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015021.1 +1 validated p.V2150 0.917 150 0% 66 30.3% 22 18.1% - - - NULL ZNF292 23036 genome.wustl.edu 37 6 87970186 87970186 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015021.1 +1 validated p.K2280T 1.000 89 0% 43 60.5% 18 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C6orf165 154313 genome.wustl.edu 37 6 88138389 88138389 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031743.2 +1 validated p.E336K 1.000 285 0% 177 57.6% 4 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SLC35A1 10559 genome.wustl.edu 37 6 88210995 88210995 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006416.4 +1 reviewed p.V158 1.000 270 0.4% 133 43.6% 12 50% - - - HMMPfam_Nuc_sug_transp,superfamily_SSF103481 RARS2 57038 genome.wustl.edu 37 6 88228411 88228411 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020320.3 -1 reviewed p.R451H 1.000 53 0% 37 13.5% 62 19.3% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) superfamily_Nucleotidylyl transferase ORC3 23595 genome.wustl.edu 37 6 88315700 88315700 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181837.1 +1 reviewed p.T130A 1.000 255 0% 125 36.8% 13 38.4% possibly_damaging(0.591) tolerated(0.52) neutral(0.212) HMMPfam_ORC3_N CNR1 1268 genome.wustl.edu 37 6 88854062 88854062 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016083.4 -1 reviewed p.R311H 1.000 35 0% 41 29.3% 0 - benign(0.344) deleterious(0.02) deleterious(0.491) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CNR1 1268 genome.wustl.edu 37 6 88854954 88854954 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016083.4 -1 reviewed p.R14C 1.000 83 0% 45 55.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RNGTT 8732 genome.wustl.edu 37 6 89322560 89322560 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003800.3 -1 validated p.L558M 1.000 141 0% 67 46.3% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_mRNA_cap_C,superfamily_Nucleic acid-binding proteins RNGTT 8732 genome.wustl.edu 37 6 89650896 89650896 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003800.3 -1 validated p.R23I 1.000 353 0% 202 40.1% 6 50% benign(0.191) tolerated(0.38) neutral(0.036) superfamily_(Phosphotyrosine protein) phosphatases II SRSF12 135295 genome.wustl.edu 37 6 89808362 89808362 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080743.4 -1 validated p.A241T 1.000 441 0% 202 47.5% 10 60% benign(0) tolerated(1) - NULL RRAGD 58528 genome.wustl.edu 37 6 90077831 90077831 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021244.4 -1 validated p.R383W 1.000 307 0% 137 31.4% 16 50% benign(0.022) deleterious(0.03) neutral(0.365) NULL ANKRD6 22881 genome.wustl.edu 37 6 90333624 90333624 + Missense_Mutation SNP G G A rs184506044 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014942.3 +1 validated p.D356N 1.000 89 0% 59 45.8% 8 25% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL MDN1 23195 genome.wustl.edu 37 6 90428121 90428121 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014611.1 -1 provisional p.R2183* 1.000 138 0% 74 50% 3 66.6% - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases MDN1 23195 genome.wustl.edu 37 6 90448052 90448052 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014611.1 -1 provisional p.D1572 0.990 171 0% 85 41.2% 1 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CASP8AP2 9994 genome.wustl.edu 37 6 90581027 90581027 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001137667.1 +1 reviewed p.L1938V 1.000 296 0% 146 47.3% 7 85.7% - - - superfamily_Homeodomain-like GJA10 84694 genome.wustl.edu 37 6 90605201 90605201 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032602.1 +1 validated p.C338 0.070 27 0% 46 19.6% 0 - - - - NULL GJA10 84694 genome.wustl.edu 37 6 90605619 90605619 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032602.1 +1 validated p.T478A 1.000 97 0% 76 43.4% 0 - benign(0.009) tolerated(0.19) neutral(0.050) NULL MAP3K7 6885 genome.wustl.edu 37 6 91246115 91246115 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145331.1 -1 reviewed p.G433R 1.000 227 0% 99 51.5% 76 50% possibly_damaging(0.867) deleterious(0.01) deleterious(0.742) NULL MAP3K7 6885 genome.wustl.edu 37 6 91278339 91278339 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145331.1 -1 reviewed p.R79W 1.000 239 0% 97 44.3% 29 65.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EPHA7 2045 genome.wustl.edu 37 6 93967964 93967964 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004440.3 -1 reviewed p.P655S 1.000 202 0% 60 38.3% 12 58.3% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP MANEA 79694 genome.wustl.edu 37 6 96053755 96053755 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024641.2 +1 validated p.R288Q 0.050 410 0% 245 38% 7 42.8% benign(0) tolerated(0.63) neutral(0.004) NULL MANEA 79694 genome.wustl.edu 37 6 96054210 96054210 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024641.2 +1 validated p.R440C 1.000 48 0% 37 43.2% 7 71.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FUT9 10690 genome.wustl.edu 37 6 96652077 96652077 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006581.3 +1 validated p.S349F 0.998 107 0% 53 39.6% 1 0% possibly_damaging(0.833) deleterious(0.04) deleterious(0.666) HMMPfam_Glyco_transf_10 UFL1 23376 genome.wustl.edu 37 6 96999376 96999376 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015323.4 +1 validated p.S629Y 1.000 182 0% 24 45.8% 17 58.8% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL GPR63 81491 genome.wustl.edu 37 6 97246916 97246916 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143957.1 -1 validated p.F231C 1.000 36 0% 21 42.9% 5 20% benign(0.143) deleterious(0) neutral(0.457) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KLHL32 114792 genome.wustl.edu 37 6 97561896 97561896 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052904.3 +1 validated p.D289Y 0.996 29 0% 36 19.4% 6 50% possibly_damaging(0.843) deleterious(0.03) deleterious(0.688) superfamily_Galactose oxidase central domain MMS22L 253714 genome.wustl.edu 37 6 97730283 97730283 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198468.2 -1 predicted p.C24Y 1.000 94 0% 74 14.9% 2 0% possibly_damaging(0.8) deleterious(0.01) deleterious(0.707) NULL POU3F2 5454 genome.wustl.edu 37 6 99283974 99283974 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005604.2 +1 validated p.E409* 1.000 66 0% 62 40.3% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 FBXL4 26235 genome.wustl.edu 37 6 99374514 99374514 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012160.3 -1 reviewed p.T117 0.004 105 0% 71 45.1% 6 50% - - - NULL PNISR 25957 genome.wustl.edu 37 6 99851757 99851757 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015491.1 -1 validated p.A368 1.000 84 0% 34 58.8% 22 36.3% - - - NULL PNISR 25957 genome.wustl.edu 37 6 99862454 99862454 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015491.1 -1 validated p.D28N 1.000 122 0% 68 32.4% 38 31.5% benign(0.355) tolerated(0.06) neutral(0.435) NULL USP45 85015 genome.wustl.edu 37 6 99924021 99924021 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080481.1 -1 provisional p.K311Q 1.000 199 0% 92 35.9% 1 100% possibly_damaging(0.564) tolerated(0.35) neutral(0.213) HMMPfam_UCH,superfamily_Cysteine proteinases PRDM13 59336 genome.wustl.edu 37 6 100057144 100057144 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021620.3 +1 validated p.D120N 1.000 67 0% 54 50% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SIM1 6492 genome.wustl.edu 37 6 100838499 100838499 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005068.2 -1 reviewed p.S680L 0.992 136 0% 77 45.5% 0 - benign(0.004) deleterious(0) neutral(0.445) NULL SIM1 6492 genome.wustl.edu 37 6 100898183 100898183 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005068.2 -1 reviewed p.Y103C 1.000 53 0% 46 28.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785 ASCC3 10973 genome.wustl.edu 37 6 100957860 100957860 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006828.2 -1 validated p.R2137* 1.000 318 0% 175 38.3% 22 27.2% - - - HMMPfam_Sec63,HMMSmart_SEC63 ASCC3 10973 genome.wustl.edu 37 6 101090573 101090573 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006828.2 -1 validated p.P1262H 1.000 204 0% 80 62.5% 15 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec63,HMMSmart_SEC63,superfamily_SSF52540 BVES 11149 genome.wustl.edu 37 6 105564689 105564689 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007073.3 -1 reviewed p.L235 1.000 257 0% 109 50.5% 1 100% - - - HMMPfam_Popeye,superfamily_cAMP-binding domain-like PRDM1 639 genome.wustl.edu 37 6 106553227 106553227 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001198.3 +1 reviewed p.L398F 0.963 15 0% 23 52.2% 6 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AIM1 202 genome.wustl.edu 37 6 106968077 106968077 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001624.2 +1 validated p.S590 0.236 45 0% 40 55% 2 100% - - - NULL AIM1 202 genome.wustl.edu 37 6 106969030 106969030 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001624.2 +1 validated p.S908L 0.760 133 0% 80 42.5% 0 - possibly_damaging(0.527) deleterious(0) deleterious(0.623) NULL AIM1 202 genome.wustl.edu 37 6 106991434 106991434 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001624.2 +1 validated p.P1259 0.000 454 0% 247 18.2% 6 50% - - - HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF AIM1 202 genome.wustl.edu 37 6 107009238 107009238 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001624.2 +1 validated p.R1593* 1.000 193 0% 87 39.1% 5 20% - - - HMMPfam_Ricin_B_lectin,HMMSmart_RICIN,superfamily_RicinB_like QRSL1 55278 genome.wustl.edu 37 6 107090882 107090882 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018292.4 +1 validated p.P99 0.998 415 0% 217 10.6% 12 8.3% - - - HMMPfam_Amidase,superfamily_Amidase signature (AS) enzymes QRSL1 55278 genome.wustl.edu 37 6 107103537 107103537 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018292.4 +1 validated p.T364S 1.000 344 0% 189 43.9% 19 36.8% benign(0.197) tolerated(0.6) neutral(0.023) HMMPfam_Amidase,superfamily_Amidase signature (AS) enzymes BEND3 57673 genome.wustl.edu 37 6 107390379 107390379 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080450.2 -1 validated p.S672R 0.169 4 0.000 8 0.625 2 50% benign(0.244) tolerated(0.1) neutral(0.311) NULL PDSS2 57107 genome.wustl.edu 37 6 107655452 107655452 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020381.3 -1 reviewed p.S127 0.000 59 0% 49 44.9% 8 50% - - - superfamily_Terpenoid synthases NR2E1 7101 genome.wustl.edu 37 6 108492665 108492665 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003269.3 +1 validated p.R10H 1.000 42 0% 66 10.6% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL LACE1 246269 genome.wustl.edu 37 6 108645030 108645030 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145315.3 +1 reviewed p.A47 0.990 81 0% 63 65.1% 2 100% - - - NULL ARMC2 84071 genome.wustl.edu 37 6 109175603 109175603 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032131.4 +1 validated p.P45S 1.000 158 0% 91 56% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPIL6 285755 genome.wustl.edu 37 6 109748083 109748083 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173672.4 -1 validated p.R200* 1.000 397 0% 184 50.5% 3 33.3% - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like MICAL1 64780 genome.wustl.edu 37 6 109767477 109767477 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022765.3 -1 validated p.R815W 0.007 33 0% 28 39.3% 29 58.6% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL AKD1 221264 genome.wustl.edu 37 6 109815184 109815184 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000424296 -1 known p.A924T 1.000 130 0% 62 54.8% 0 - possibly_damaging(0.506) tolerated(0.4) neutral(0.185) NULL WASF1 8936 genome.wustl.edu 37 6 110421754 110421754 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024934.1 -1 reviewed p.E551* 1.000 365 0% 139 38.1% 51 25.4% - - - NULL WASF1 8936 genome.wustl.edu 37 6 110429778 110429778 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024934.1 -1 reviewed p.Y125 0.692 160 0% 82 43.9% 32 28.1% - - - NULL METTL24 728464 genome.wustl.edu 37 6 110567422 110567422 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001123364.1 -1 inferred p.K276N 1.000 94 0% 39 48.7% 1 0% probably_damaging(0.992) tolerated(0.16) deleterious(0.507) NULL DDO 8528 genome.wustl.edu 37 6 110734662 110734662 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003649.2 -1 reviewed p.D30N 0.863 30 0% 33 54.5% 0 - benign(0.261) tolerated(0.15) neutral(0.268) NULL SLC22A16 85413 genome.wustl.edu 37 6 110757113 110757113 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033125.2 -1 provisional p.G455R 0.100 230 0% 104 44.2% 1 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A16 85413 genome.wustl.edu 37 6 110778004 110778004 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033125.2 -1 provisional p.L90 0.114 163 0% 87 62.1% 0 - - - - NULL RPF2 84154 genome.wustl.edu 37 6 111336990 111336990 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032194.1 +1 validated p.R176H 1.000 262 0% 179 10.1% 55 16.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Brix REV3L 5980 genome.wustl.edu 37 6 111726752 111726752 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002912.3 -1 validated p.Q162 0.999 343 0% 126 41.3% 6 50% - - - superfamily_Ribonuclease H-like LAMA4 3910 genome.wustl.edu 37 6 112460448 112460448 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105206.1 -1 reviewed p.F1052 0.999 120 0% 68 33.8% 12 16.6% - - - superfamily_Concanavalin A-like lectins/glucanases RFPL4B 442247 genome.wustl.edu 37 6 112671441 112671441 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013734.2 +1 validated p.E177 0.001 39 0% 47 44.7% 0 - - - - HMMPfam_SPRY HS3ST5 222537 genome.wustl.edu 37 6 114378527 114378527 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153612.3 -1 validated p.I312T 1.000 110 0% 77 41.6% 0 - benign(0) tolerated(0.72) neutral(0.002) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases FRK 2444 genome.wustl.edu 37 6 116263644 116263644 + Missense_Mutation SNP C C T rs141525046 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002031.2 -1 reviewed p.R484H 0.991 237 0% 72 41.7% 3 33.3% benign(0) tolerated(0.4) neutral(0.016) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FRK 2444 genome.wustl.edu 37 6 116263730 116263730 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002031.2 -1 reviewed p.P455 0.015 174 0% 78 38.5% 8 12.5% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FRK 2444 genome.wustl.edu 37 6 116288821 116288821 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002031.2 -1 reviewed p.R231H 1.000 209 0% 94 20.2% 6 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Kinase_like,superfamily_SSF55550 FRK 2444 genome.wustl.edu 37 6 116381399 116381399 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002031.2 -1 reviewed p.S26P 0.000 50 0% 39 33.3% 4 25% benign(0) tolerated(0.34) neutral(0.023) NULL COL10A1 1300 genome.wustl.edu 37 6 116441388 116441388 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000493.3 -1 reviewed p.G631C 1.000 108 0% 80 55% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like NT5DC1 221294 genome.wustl.edu 37 6 116542378 116542378 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152729.2 +1 reviewed p.E231K 0.050 187 0% 55 47.3% 25 56% benign(0.002) tolerated(0.54) neutral(0.007) HMMPfam_5_nucleotid NT5DC1 221294 genome.wustl.edu 37 6 116544280 116544280 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152729.2 +1 reviewed p.P263H 1.000 398 0% 144 17.4% 38 13.1% possibly_damaging(0.839) deleterious(0) deleterious(0.765) HMMPfam_5_nucleotid TSPYL4 23270 genome.wustl.edu 37 6 116574535 116574535 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021648.4 -1 validated p.E213K 1.000 53 0% 53 32.1% 18 33.3% probably_damaging(0.997) tolerated(0.3) deleterious(0.495) HMMPfam_NAP DSE 29940 genome.wustl.edu 37 6 116757448 116757448 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080976.1 +1 reviewed p.F606C 0.749 94 0% 54 42.6% 20 55% benign(0.029) deleterious(0.02) neutral(0.385) NULL FAM26F 441168 genome.wustl.edu 37 6 116784807 116784807 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010919.1 +1 predicted p.T296M 0.000 125 0.8% 103 46.6% 8 12.5% possibly_damaging(0.583) tolerated(0.15) neutral(0.442) NULL BET3L 100128327 genome.wustl.edu 37 6 116821770 116821770 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001139444.2 -1 validated p.K100N 1.000 219 0% 72 55.6% 0 - benign(0) tolerated(0.61) neutral(0.004) HMMPfam_TRAPP FAM26E 254228 genome.wustl.edu 37 6 116836777 116836777 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153711.2 +1 validated p.C185 0.995 153 0% 59 25.4% 1 0% - - - NULL RSPH4A 345895 genome.wustl.edu 37 6 116948838 116948838 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010892.2 +1 reviewed p.E323G 1.000 273 0% 149 36.9% 2 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Radial_spoke RSPH4A 345895 genome.wustl.edu 37 6 116948931 116948931 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010892.2 +1 reviewed p.R354H 1.000 244 0% 139 13.7% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Radial_spoke RFX6 222546 genome.wustl.edu 37 6 117232164 117232164 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173560.2 +1 validated p.A247T 1.000 268 0% 119 44.5% 0 - possibly_damaging(0.733) tolerated(0.05) deleterious(0.613) NULL ROS1 6098 genome.wustl.edu 37 6 117609921 117609921 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002944.2 -1 reviewed p.P2260S 0.026 257 0% 102 38.2% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL ROS1 6098 genome.wustl.edu 37 6 117642540 117642540 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002944.2 -1 reviewed p.K1887Q 0.760 177 0% 65 50.8% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL DCBLD1 285761 genome.wustl.edu 37 6 117841041 117841041 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173674.1 +1 provisional p.V130I 0.329 204 0.5% 87 33.3% 10 10% benign(0.253) tolerated(0.58) neutral(0.031) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CEP85L 387119 genome.wustl.edu 37 6 118953695 118953695 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042475.2 -1 validated p.N51 0.065 161 0% 85 43.5% 0 - - - - NULL FAM184A 79632 genome.wustl.edu 37 6 119345176 119345176 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024581.4 -1 validated p.D321G 1.000 185 0% 67 56.7% 1 100% benign(0.418) tolerated(0.21) neutral(0.179) NULL MAN1A1 4121 genome.wustl.edu 37 6 119509653 119509653 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005907.2 -1 reviewed p.P546S 1.000 332 0% 160 42.5% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 MAN1A1 4121 genome.wustl.edu 37 6 119511012 119511012 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005907.2 -1 reviewed p.G455R 1.000 71 0% 56 51.8% 13 23% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 C6orf170 221322 genome.wustl.edu 37 6 121427174 121427174 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152730.4 -1 validated p.S1154A 1.000 161 0% 59 42.4% 3 33.3% possibly_damaging(0.865) tolerated(0.16) neutral(0.395) superfamily_Ypt/Rab-GAP domain of gyp1p C6orf170 221322 genome.wustl.edu 37 6 121433702 121433702 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152730.4 -1 validated p.F1091L 1.000 302 0% 135 40% 1 0% probably_damaging(0.987) tolerated(0.47) neutral(0.448) NULL HSF2 3298 genome.wustl.edu 37 6 122733833 122733833 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004506.3 +1 validated p.R85I 1.000 298 0% 121 54.5% 5 60% possibly_damaging(0.869) deleterious(0) deleterious(0.782) HMMPfam_HSF_DNA-bind,HMMSmart_HSF,superfamily_SSF46785 SMPDL3A 10924 genome.wustl.edu 37 6 123130474 123130474 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006714.3 +1 validated p.Q428R 0.998 117 0% 72 41.7% 2 100% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL TRDN 10345 genome.wustl.edu 37 6 123592325 123592325 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006073.2 -1 validated p.K560T 0.956 459 0% 102 35.3% 0 - possibly_damaging(0.936) tolerated(0.11) deleterious(0.653) NULL TPD52L1 7164 genome.wustl.edu 37 6 125578299 125578299 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003287.2 +1 reviewed p.L161F 1.000 120 0% 71 49.3% 127 59% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_TPD52 HEY2 23493 genome.wustl.edu 37 6 126080510 126080510 + Silent SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012259.2 +1 reviewed p.L192 0.787 29 0% 31 29% 64 42.1% - - - NULL NCOA7 135112 genome.wustl.edu 37 6 126196039 126196039 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181782.3 +1 validated p.D92 1.000 225 0% 76 11.8% 1 0% - - - NULL HINT3 135114 genome.wustl.edu 37 6 126293444 126293444 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138571.4 +1 validated p.R120I 0.968 344 0% 157 45.9% 39 48.7% possibly_damaging(0.903) tolerated(0.09) deleterious(0.654) HMMPfam_HIT,superfamily_His_triad-like_motif LOC728666 728666 genome.wustl.edu 37 6 126965283 126965283 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_015645.3 +1 model NULL 1.000 85 0% 57 50.9% 12 0% - - - - RSPO3 84870 genome.wustl.edu 37 6 127440409 127440409 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032784.3 +1 reviewed p.A24 1.000 246 0% 229 48.9% 0 - - - - superfamily_Growth factor receptor domain KIAA0408 9729 genome.wustl.edu 37 6 127767816 127767816 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014702.4 -1 validated p.R550C 0.996 169 0% 84 44% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SOGA3 387104 genome.wustl.edu 37 6 127796580 127796580 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012279.2 -1 validated p.R864H 1.000 13 0% 13 38.5% 0 - probably_damaging(0.996) tolerated(0.17) deleterious(0.520) NULL SOGA3 387104 genome.wustl.edu 37 6 127797352 127797352 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012279.2 -1 validated p.E607K 1.000 91 0% 83 54.2% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL SOGA3 387104 genome.wustl.edu 37 6 127797514 127797514 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012279.2 -1 validated p.F553I 1.000 113 0% 68 16.2% 0 - benign(0.042) tolerated(0.08) neutral(0.302) NULL THEMIS 387357 genome.wustl.edu 37 6 128176236 128176236 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010923.2 -1 reviewed p.I63 0.993 390 0% 96 55.2% 0 - - - - NULL PTPRK 5796 genome.wustl.edu 37 6 128312532 128312532 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135648.1 -1 validated p.P968 0.998 265 0.4% 68 41.2% 32 25% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPRK 5796 genome.wustl.edu 37 6 128540178 128540178 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135648.1 -1 validated p.A253T 1.000 209 0% 76 35.5% 19 68.4% possibly_damaging(0.943) tolerated(0.05) deleterious(0.733) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 LAMA2 3908 genome.wustl.edu 37 6 129511407 129511407 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000426.3 +1 reviewed p.E509* 1.000 325 0% 173 35.3% 0 - - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_ConA_like_lec_gl,superfamily_SSF57196 LAMA2 3908 genome.wustl.edu 37 6 129663582 129663582 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000426.3 +1 reviewed p.C1469Y 1.000 120 0% 66 40.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_ConA_like_lec_gl,superfamily_SSF57196 LAMA2 3908 genome.wustl.edu 37 6 129712767 129712767 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000426.3 +1 reviewed p.T1735A 0.000 463 0.2% 162 47.5% 0 - benign(0) tolerated(0.76) neutral(0.001) superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I TMEM244 253582 genome.wustl.edu 37 6 130166976 130166976 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010876.1 -1 provisional p.L19I 0.000 142 0% 54 37% 0 - benign(0.038) tolerated(0.12) neutral(0.263) NULL L3MBTL3 84456 genome.wustl.edu 37 6 130392204 130392204 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032438.1 +1 validated p.T392 1.000 316 0% 134 50.7% 8 62.5% - - - HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT L3MBTL3 84456 genome.wustl.edu 37 6 130455046 130455046 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032438.1 +1 validated p.D732A 1.000 346 0% 131 38.9% 9 44.4% possibly_damaging(0.658) tolerated(0.08) deleterious(0.532) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain ARG1 383 genome.wustl.edu 37 6 131897803 131897803 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000045.2 +1 reviewed p.P20S 1.000 328 0% 137 43.1% 0 - benign(0.007) tolerated(0.2) neutral(0.049) HMMPfam_Arginase,superfamily_Arginase/deacetylase ARG1 383 genome.wustl.edu 37 6 131900335 131900335 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000045.2 +1 reviewed p.S72Y 0.859 90 0% 45 53.3% 0 - possibly_damaging(0.561) tolerated(0.92) neutral(0.192) HMMPfam_Arginase,superfamily_Arginase/deacetylase ENPP3 5169 genome.wustl.edu 37 6 131973995 131973995 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005021.3 +1 reviewed p.N143S 0.011 151 0% 45 24.4% 1 100% benign(0) tolerated(0.29) neutral(0.029) NULL ENPP3 5169 genome.wustl.edu 37 6 131995443 131995443 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000427148 +1 known p.A228T 0.000 50 0% 28 25% 0 - unknown(0) tolerated(0.16) - superfamily_Alkaline_phosphatase_core ENPP3 5169 genome.wustl.edu 37 6 131996300 131996300 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005021.3 +1 reviewed p.S281 0.978 196 0% 86 41.9% 0 - - - - HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core OR2A4 79541 genome.wustl.edu 37 6 132022474 132022474 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030908.1 -1 provisional p.Q23R 0.102 40 0% 56 25% 0 - benign(0.002) tolerated(0.06) neutral(0.323) superfamily_SSF81321 CTAGE9 643854 genome.wustl.edu 37 6 132031695 132031695 + Missense_Mutation SNP C C G rs2072311 byCluster TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145659.1 -1 provisional p.E155Q 0.000 368 23.6% 334 29.3% 0 - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL ENPP1 5167 genome.wustl.edu 37 6 132206138 132206138 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006208.2 +1 reviewed p.V793 0.668 424 0% 299 54.8% 8 25% - - - HMMSmart_NUC,superfamily_SSF54060 TAAR9 134860 genome.wustl.edu 37 6 132859517 132859517 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175057.3 +1 reviewed p.G30D 0.001 151 0% 70 42.9% 0 - possibly_damaging(0.947) tolerated(0.42) neutral(0.405) superfamily_Family A G protein-coupled receptor-like TAAR6 319100 genome.wustl.edu 37 6 132891557 132891557 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175067.1 +1 reviewed p.V33M 0.000 152 0% 85 37.6% 0 - benign(0.005) tolerated(0.08) neutral(0.300) superfamily_SSF81321 TAAR2 9287 genome.wustl.edu 37 6 132938450 132938450 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033080.1 -1 validated p.A299T 1.000 185 0% 54 50% 0 - benign(0.057) tolerated(0.35) neutral(0.024) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like VNN2 8875 genome.wustl.edu 37 6 133072350 133072350 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004665.2 -1 reviewed p.E378D 0.000 378 0% 130 38.5% 1 0% benign(0) tolerated(0.57) neutral(0.006) NULL VNN2 8875 genome.wustl.edu 37 6 133078957 133078957 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004665.2 -1 reviewed p.T22 0.000 133 0% 75 33.3% 0 - - - - superfamily_Ntlse/CNhydtse SLC18B1 116843 genome.wustl.edu 37 6 133105182 133105182 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052831.2 -1 validated p.P183H 0.999 176 0% 81 37% 23 21.7% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_MFS_1,superfamily_MFS general substrate transporter TBPL1 9519 genome.wustl.edu 37 6 134303769 134303769 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004865.2 +1 reviewed p.I67V 1.000 286 0% 113 54% 25 56% benign(0.001) tolerated(1) - HMMPfam_TBP,superfamily_TATA-box binding protein-like SLC2A12 154091 genome.wustl.edu 37 6 134350571 134350571 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145176.2 -1 validated p.T131M 0.000 116 0% 65 40% 11 36.3% benign(0.102) tolerated(0.23) neutral(0.050) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter SGK1 6446 genome.wustl.edu 37 6 134491540 134491540 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143676.1 -1 reviewed p.E483K 1.000 35 0% 37 43.2% 51 45% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_S_TK_X,HMMPfam_Pkinase_C SGK1 6446 genome.wustl.edu 37 6 134493833 134493833 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143676.1 -1 reviewed p.L305S 1.000 54 0% 41 41.5% 40 57.5% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HBS1L 10767 genome.wustl.edu 37 6 135303626 135303626 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006620.3 -1 reviewed p.M523L 1.000 260 0% 76 55.3% 51 60.7% benign(0.001) tolerated(0.17) neutral(0.059) HMMPfam_GTP_EFTU_D2,superfamily_Translation proteins PDE7B 27115 genome.wustl.edu 37 6 136477031 136477031 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000446774 +1 known p.L177 0.590 8 0.000 6 0.667 0 - - - - NULL MAP7 9053 genome.wustl.edu 37 6 136693712 136693712 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003980.3 -1 reviewed p.S268L 0.962 224 0% 133 54.1% 32 46.8% unknown(0) tolerated(0.32) - NULL MAP3K5 4217 genome.wustl.edu 37 6 136878912 136878912 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005923.3 -1 reviewed p.R1370Q 1.000 167 0% 97 36.1% 12 41.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SAM_homology MAP3K5 4217 genome.wustl.edu 37 6 137015428 137015428 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005923.3 -1 reviewed p.R368I 1.000 133 0% 45 55.6% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC35D3 340146 genome.wustl.edu 37 6 137245552 137245552 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008783.1 +1 provisional p.A323 0.009 33 0% 50 38% 0 - - - - NULL IL20RA 53832 genome.wustl.edu 37 6 137338238 137338238 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014432.2 -1 reviewed p.P31S 0.732 154 0% 72 54.2% 1 0% possibly_damaging(0.489) tolerated(0.74) neutral(0.164) HMMPfam_IL10Ra-bind IFNGR1 3459 genome.wustl.edu 37 6 137524736 137524736 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000416.2 -1 reviewed p.S211 0.000 227 0% 101 10.9% 43 13.9% - - - HMMPfam_IFNGR1,superfamily_Fibronectin type III KIAA1244 57221 genome.wustl.edu 37 6 138607131 138607131 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020340.4 +1 validated p.S837L 0.971 90 0% 77 16.9% 5 0% benign(0.31) tolerated(0.35) neutral(0.117) NULL KIAA1244 57221 genome.wustl.edu 37 6 138618045 138618045 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020340.4 +1 validated p.L1201F 1.000 43 0% 40 62.5% 11 18.1% benign(0.001) tolerated(0.11) neutral(0.272) NULL KIAA1244 57221 genome.wustl.edu 37 6 138634997 138634997 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020340.4 +1 validated p.L1422 1.000 194 0% 149 12.1% 9 11.1% - - - NULL KIAA1244 57221 genome.wustl.edu 37 6 138655415 138655415 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020340.4 +1 validated p.A1811V 1.000 27 0% 20 35% 18 38.8% probably_damaging(0.998) tolerated(0.53) deleterious(0.482) NULL NHSL1 57224 genome.wustl.edu 37 6 138752630 138752630 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144060.1 -1 validated p.P951H 0.998 41 0% 28 57.1% 12 41.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NHSL1 57224 genome.wustl.edu 37 6 138752696 138752696 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144060.1 -1 validated p.A929V 0.008 41 0% 24 62.5% 20 30% benign(0) tolerated(0.11) neutral(0.272) NULL TXLNB 167838 genome.wustl.edu 37 6 139581478 139581478 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153235.3 -1 validated p.R327* 0.799 224 0% 150 44% 0 - - - - HMMPfam_Taxilin GPR126 57211 genome.wustl.edu 37 6 142711439 142711439 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198569.2 +1 reviewed p.R423C 0.007 203 0% 82 51.2% 3 33.3% possibly_damaging(0.783) deleterious(0.03) deleterious(0.657) NULL GPR126 57211 genome.wustl.edu 37 6 142741020 142741020 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198569.2 +1 reviewed p.F1033S 1.000 590 0% 183 12% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2,superfamily_SSF81321 HIVEP2 3097 genome.wustl.edu 37 6 143081525 143081525 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006734.3 -1 provisional p.S1967L 0.999 177 0% 123 31.7% 7 14.2% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL HIVEP2 3097 genome.wustl.edu 37 6 143090724 143090724 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006734.3 -1 provisional p.L1718I 1.000 183 0% 125 13.6% 4 50% benign(0.178) deleterious(0.02) neutral(0.400) NULL HIVEP2 3097 genome.wustl.edu 37 6 143093717 143093717 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006734.3 -1 provisional p.P720L 0.840 149 0% 131 50.4% 17 52.9% possibly_damaging(0.898) deleterious(0.02) deleterious(0.738) NULL HIVEP2 3097 genome.wustl.edu 37 6 143094243 143094243 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006734.3 -1 provisional p.S545P 1.000 165 0% 109 11% 6 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PEX3 8504 genome.wustl.edu 37 6 143792693 143792693 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003630.2 +1 reviewed e7-1 1.000 394 0% 210 43.3% 0 - - - - - FUCA2 2519 genome.wustl.edu 37 6 143825093 143825093 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032020.3 -1 validated p.Y237H 0.998 90 0% 46 34.8% 58 43.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Alpha_L_fucos,HMMSmart_Alpha_L_fucos,superfamily_Glyco_hydro_cat LTV1 84946 genome.wustl.edu 37 6 144178565 144178565 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032860.3 +1 provisional p.E175* 0.019 394 0% 234 49.6% 24 16.6% - - - HMMPfam_LTV LTV1 84946 genome.wustl.edu 37 6 144184236 144184236 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032860.3 +1 provisional p.R377Q 0.025 270 0% 118 51.7% 22 9% benign(0.006) tolerated(1) - HMMPfam_LTV ZC2HC1B 153918 genome.wustl.edu 37 6 144207282 144207282 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000416313 +1 known p.N59S 0.000 189 0% 53 39.6% 0 - - - - NULL UTRN 7402 genome.wustl.edu 37 6 145021242 145021242 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007124.2 +1 reviewed p.A2558T 1.000 129 0% 59 20.3% 11 0% probably_damaging(0.996) tolerated(0.25) deleterious(0.498) superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 145115078 145115078 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007124.2 +1 reviewed p.A3010V 0.994 58 0% 47 51.1% 7 42.8% benign(0.01) deleterious(0.01) neutral(0.406) HMMPfam_efhand_2,superfamily_SSF47473 UTRN 7402 genome.wustl.edu 37 6 145160324 145160324 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007124.2 +1 reviewed p.R3361* 1.000 155 0.6% 105 48.6% 13 23% - - - NULL SHPRH 257218 genome.wustl.edu 37 6 146234648 146234648 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042683.2 -1 validated p.P1435H 1.000 375 0% 116 48.3% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_RING/U-box SHPRH 257218 genome.wustl.edu 37 6 146243935 146243935 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042683.2 -1 validated p.T1199P 1.000 219 0% 52 50% 5 60% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL GRM1 2911 genome.wustl.edu 37 6 146350783 146350783 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000838.3 +1 reviewed p.D44Y 1.000 44 0% 62 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53822 GRM1 2911 genome.wustl.edu 37 6 146351350 146351350 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000838.3 +1 reviewed p.E233* 1.000 25 0% 22 36.4% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 GRM1 2911 genome.wustl.edu 37 6 146673553 146673553 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000838.3 +1 reviewed p.D452Y 1.000 114 0% 82 12.2% 0 - possibly_damaging(0.455) deleterious(0) deleterious(0.594) HMMPfam_ANF_receptor,superfamily_SSF53822 GRM1 2911 genome.wustl.edu 37 6 146755323 146755323 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000838.3 +1 reviewed p.P992 0.269 12 0% 14 78.6% 0 - - - - NULL ADGB 79747 genome.wustl.edu 37 6 147090158 147090158 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024694.3 +1 provisional p.N1251K 0.004 470 0% 151 47.7% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL STXBP5 134957 genome.wustl.edu 37 6 147588219 147588219 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127715.1 +1 reviewed e7-1 1.000 977 0% 352 40.9% 1 100% - - - - STXBP5 134957 genome.wustl.edu 37 6 147684583 147684583 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127715.1 +1 reviewed p.E886D 0.963 169 0% 99 51.5% 7 42.8% benign(0) tolerated(0.53) neutral(0.007) NULL SASH1 23328 genome.wustl.edu 37 6 148869673 148869673 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015278.3 +1 validated p.P1241 0.144 14 0.000 8 0.625 7 71.4% - - - HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 TAB2 23118 genome.wustl.edu 37 6 149699214 149699214 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015093.4 +1 reviewed p.Y55H 1.000 163 0% 98 53.1% 19 47.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PPIL4 85313 genome.wustl.edu 37 6 149826758 149826758 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139126.2 -1 reviewed p.R437Q 0.921 650 0.2% 355 52.4% 37 48.6% unknown(0) - - superfamily_RNA-binding domain RBD PPIL4 85313 genome.wustl.edu 37 6 149862666 149862666 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139126.2 -1 reviewed p.H43Y 1.000 305 0% 189 42.9% 24 37.5% benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like NUP43 348995 genome.wustl.edu 37 6 150063596 150063596 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198887.1 -1 validated p.I144 0.996 127 0% 99 46.5% 20 15% - - - HMMSmart_WD40,superfamily_WD40_like RAET1G 353091 genome.wustl.edu 37 6 150240332 150240332 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001788.2 -1 provisional p.T160A 0.013 402 0.2% 310 50% 1 0% benign(0.006) tolerated(1) - HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain ULBP1 80329 genome.wustl.edu 37 6 150290008 150290008 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025218.2 +1 provisional e2+2 0.545 93 0% 59 67.8% 0 - - - - - PLEKHG1 57480 genome.wustl.edu 37 6 151161366 151161366 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029884.1 +1 provisional p.N1164 1.000 87 0% 60 41.7% 12 25% - - - NULL MTHFD1L 25902 genome.wustl.edu 37 6 151247259 151247259 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015440.3 +1 validated p.D362Y 1.000 220 0% 114 53.5% 19 57.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases AKAP12 9590 genome.wustl.edu 37 6 151672061 151672061 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005100.3 +1 reviewed p.A845 0.762 24 0% 21 76.2% 46 52.1% - - - NULL ESR1 2099 genome.wustl.edu 37 6 152201798 152201798 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000125.3 +1 reviewed p.D218N 1.000 65 0% 46 10.9% 44 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) SYNE1 23345 genome.wustl.edu 37 6 152646231 152646231 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182961.2 -1 reviewed p.G5215 0.014 88 0% 76 48.7% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152650942 152650942 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182961.2 -1 reviewed p.S4960P 0.988 173 0% 131 47.3% 0 - benign(0) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152651999 152651999 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182961.2 -1 reviewed p.N4607 0.306 423 0% 206 44.7% 2 100% - - - HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152652365 152652365 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182961.2 -1 reviewed p.L4485 0.047 107 0% 71 11.3% 3 0% - - - HMMPfam_Spectrin,HMMSmart_SM00150 SYNE1 23345 genome.wustl.edu 37 6 152652831 152652831 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182961.2 -1 reviewed p.D4330G 1.000 160 0% 84 14.3% 0 - benign(0.059) - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152706914 152706914 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182961.2 -1 reviewed p.V2849 0.996 264 0% 112 34.8% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152751806 152751806 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182961.2 -1 reviewed p.I1500M 0.018 177 0% 89 44.9% 0 - possibly_damaging(0.502) - - HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152772251 152772251 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182961.2 -1 reviewed p.R1039S 0.040 186 0% 126 34.9% 0 - possibly_damaging(0.888) deleterious(0.02) deleterious(0.730) NULL SYNE1 23345 genome.wustl.edu 37 6 152826376 152826376 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182961.2 -1 reviewed p.A246 0.208 199 0% 99 26.3% 1 0% - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain SYNE1 23345 genome.wustl.edu 37 6 152826379 152826379 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182961.2 -1 reviewed p.I245 0.728 194 0% 99 46.5% 1 0% - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain VIP 7432 genome.wustl.edu 37 6 153075362 153075362 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003381.2 +1 reviewed p.D57N 0.889 200 0% 48 43.8% 0 - possibly_damaging(0.94) deleterious(0.02) deleterious(0.768) NULL FBXO5 26271 genome.wustl.edu 37 6 153296153 153296153 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012177.3 -1 reviewed p.G236D 1.000 328 0% 187 34.8% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FBXO5 26271 genome.wustl.edu 37 6 153296364 153296364 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012177.3 -1 reviewed p.E166K 0.003 375 0% 212 39.6% 15 33.3% benign(0) tolerated(0.3) neutral(0.029) NULL RGS17 26575 genome.wustl.edu 37 6 153332789 153332789 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012419.4 -1 reviewed p.D185Y 1.000 216 0% 130 35.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam OPRM1 4988 genome.wustl.edu 37 6 154412548 154412548 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145279.1 +1 reviewed p.R462C 0.995 26 0% 23 52.2% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_SSF81321 IPCEF1 26034 genome.wustl.edu 37 6 154520983 154520983 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130699.1 -1 validated p.V243 0.024 111 0% 69 34.8% 0 - - - - NULL SCAF8 22828 genome.wustl.edu 37 6 155131256 155131256 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014892.3 +1 validated p.S445L 1.000 180 0% 84 45.2% 20 75% unknown(0) deleterious(0) - superfamily_SSF54928 SCAF8 22828 genome.wustl.edu 37 6 155148315 155148315 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014892.3 +1 validated p.P694L 1.000 284 0% 148 55.4% 24 54.1% benign(0.181) tolerated(0.06) neutral(0.339) NULL SCAF8 22828 genome.wustl.edu 37 6 155148352 155148352 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014892.3 +1 validated p.T706 0.319 350 0.3% 176 35.8% 30 43.3% - - - NULL SCAF8 22828 genome.wustl.edu 37 6 155153680 155153680 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014892.3 +1 validated p.Q989H 0.589 55 0% 28 53.6% 23 26% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL SCAF8 22828 genome.wustl.edu 37 6 155154527 155154527 + Nonstop_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014892.3 +1 validated p.*1272Q 1.000 71 0% 35 48.6% 34 55.8% - - - NULL TIAM2 26230 genome.wustl.edu 37 6 155497988 155497988 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012454.3 +1 reviewed p.D800 0.013 173 0% 107 14% 4 0% - - - NULL ARID1B 57492 genome.wustl.edu 37 6 157510789 157510789 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017519.2 +1 validated p.S1170 0.977 22 0% 21 47.6% 24 58.3% - - - NULL ARID1B 57492 genome.wustl.edu 37 6 157528950 157528950 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017519.2 +1 validated p.I2207 1.000 10 0.000 9 0.778 32 50% - - - NULL TMEM242 729515 genome.wustl.edu 37 6 157739844 157739844 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018452.4 -1 validated p.F99 1.000 121 0% 90 42.2% 16 43.7% - - - HMMPfam_DUF1358 SNX9 51429 genome.wustl.edu 37 6 158327225 158327225 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016224.3 +1 reviewed p.K229R 1.000 356 0% 176 39.8% 23 30.4% possibly_damaging(0.509) tolerated(0.44) neutral(0.183) NULL SNX9 51429 genome.wustl.edu 37 6 158330950 158330950 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016224.3 +1 reviewed p.R281Q 0.922 487 0% 325 36.6% 34 35.2% probably_damaging(0.969) tolerated(0.64) neutral(0.414) HMMPfam_PX,HMMSmart_PX,superfamily_PX SYNJ2 8871 genome.wustl.edu 37 6 158492640 158492640 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003898.3 +1 reviewed p.V649 1.000 9 0.000 21 0.429 17 58.8% - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like SERAC1 84947 genome.wustl.edu 37 6 158540137 158540137 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032861.3 -1 validated p.R411H 1.000 188 0% 129 57.4% 13 38.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_alpha/beta-Hydrolases TULP4 56995 genome.wustl.edu 37 6 158870180 158870180 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020245.3 +1 validated p.T232 1.000 37 0% 35 48.6% 20 35% - - - superfamily_WD40 repeat-like TMEM181 57583 genome.wustl.edu 37 6 159046207 159046207 + Silent SNP G G A rs189597784 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020823.1 +1 validated p.A479 0.996 126 0% 145 13.1% 20 25% - - - NULL TMEM181 57583 genome.wustl.edu 37 6 159052861 159052861 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020823.1 +1 validated p.P594S 1.000 47 0% 35 40% 30 33.3% possibly_damaging(0.612) tolerated(0.08) deleterious(0.512) NULL EZR 7430 genome.wustl.edu 37 6 159187951 159187951 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111077.1 -1 reviewed p.L586M 1.000 45 0% 58 58.6% 342 57% benign(0.005) tolerated(1) - superfamily_Moesin,HMMPfam_ERM RSPH3 83861 genome.wustl.edu 37 6 159403718 159403718 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031924.4 -1 validated p.L307 1.000 265 0% 138 36.2% 2 100% - - - HMMPfam_Radial_spoke_3 FNDC1 84624 genome.wustl.edu 37 6 159642721 159642721 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032532.2 +1 validated p.K253N 0.887 119 0% 74 48.6% 1 0% unknown(0) tolerated(0.12) - NULL FNDC1 84624 genome.wustl.edu 37 6 159670157 159670157 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032532.2 +1 validated p.A1593T 0.962 79 0% 54 55.6% 1 0% benign(0.349) tolerated(1) neutral(0.111) NULL TCP1 6950 genome.wustl.edu 37 6 160200261 160200261 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030752.2 -1 reviewed p.R496Q 0.974 273 0% 120 41.7% 297 37.7% benign(0.296) tolerated(0.27) neutral(0.125) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase TCP1 6950 genome.wustl.edu 37 6 160201534 160201534 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030752.2 -1 reviewed p.G346 1.000 376 0% 177 19.2% 271 16.2% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029,superfamily_SSF54849 PNLDC1 154197 genome.wustl.edu 37 6 160239686 160239686 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173516.1 +1 provisional p.I408 1.000 17 0% 25 36% 0 - - - - NULL SLC22A1 6580 genome.wustl.edu 37 6 160555068 160555068 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003057.2 +1 reviewed p.A250 0.973 54 0% 49 20.4% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A2 6582 genome.wustl.edu 37 6 160668276 160668276 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003058.2 -1 reviewed p.A299 1.000 223 0.4% 101 35.6% 0 - - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter LPA 4018 genome.wustl.edu 37 6 161021992 161021992 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005577.2 -1 reviewed p.P1028 0.000 98 0% 54 53.7% 0 - - - - superfamily_Kringle-like PLG 5340 genome.wustl.edu 37 6 161157979 161157979 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000301.3 +1 reviewed p.V581A 0.741 105 0% 71 47.9% 0 - benign(0.302) deleterious(0) deleterious(0.538) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MAP3K4 4216 genome.wustl.edu 37 6 161470619 161470619 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005922.2 +1 reviewed p.E439* 0.945 151 0% 71 56.3% 10 50% - - - NULL MAP3K4 4216 genome.wustl.edu 37 6 161522964 161522964 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005922.2 +1 reviewed p.A1239S 1.000 166 0% 87 44.8% 21 42.8% probably_damaging(1) tolerated(0.75) deleterious(0.501) NULL AGPAT4 56895 genome.wustl.edu 37 6 161560624 161560624 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020133.2 -1 reviewed p.T291M 1.000 20 0% 17 35.3% 9 44.4% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_SSF69593 LOC100129958 100129958 genome.wustl.edu 37 6 162990715 162990715 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001719102.1 +1 model p.C301 1.000 16 0% 18 44.4% 0 - - - - NULL PDE10A 10846 genome.wustl.edu 37 6 165809831 165809831 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130690.1 -1 validated p.V466M 0.000 195 0% 103 49.5% 5 80% benign(0.043) tolerated(0.11) neutral(0.274) superfamily_SSF109604 PDE10A 10846 genome.wustl.edu 37 6 165843824 165843824 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130690.1 -1 validated p.G252C 1.000 428 0% 214 38.8% 9 55.5% probably_damaging(0.978) tolerated(0.11) deleterious(0.692) HMMSmart_GAF PDE10A 10846 genome.wustl.edu 37 6 165863792 165863792 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130690.1 -1 validated p.R95L 1.000 423 0% 196 51% 4 50% benign(0.063) tolerated(0.28) neutral(0.036) superfamily_SSF55781 T 6862 genome.wustl.edu 37 6 166576055 166576055 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003181.2 -1 reviewed p.P262S 0.717 73 0% 56 48.2% 0 - benign(0.001) tolerated(0.89) - NULL RPS6KA2 6196 genome.wustl.edu 37 6 166862234 166862234 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006932.1 -1 reviewed p.T445I 0.997 63 0% 67 44.8% 15 40% possibly_damaging(0.686) deleterious(0) deleterious(0.690) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase MIR1913 100302141 genome.wustl.edu 37 6 166922861 166922861 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000411026 -1 known NULL 0.001 17 0% 16 50% 0 - - - - - RPS6KA2 6196 genome.wustl.edu 37 6 166952273 166952273 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006932.1 -1 reviewed e3-1 0.999 53 0% 53 17% 0 - - - - - UNC93A 54346 genome.wustl.edu 37 6 167717573 167717573 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018974.3 +1 validated p.P264 0.018 95 0% 85 32.9% 0 - - - - superfamily_MFS_gen_substrate_transporter TTLL2 83887 genome.wustl.edu 37 6 167753962 167753962 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031949.4 +1 validated p.V192M 0.083 128 0% 110 17.3% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like TCP10 6953 genome.wustl.edu 37 6 167787930 167787930 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004610.3 -1 validated p.S233* 0.003 472 0% 367 15% 0 - - - - HMMPfam_Tcp10_C TCP10 6953 genome.wustl.edu 37 6 167794573 167794573 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000476779 -1 known p.C105 0.000 53 0% 59 37.3% 0 - - - - NULL MLLT4 4301 genome.wustl.edu 37 6 168348587 168348587 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040001.1 +1 validated p.K1195R 1.000 167 0% 96 37.5% 59 42.3% probably_damaging(0.996) tolerated(0.27) deleterious(0.495) NULL MLLT4 4301 genome.wustl.edu 37 6 168351921 168351921 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040001.1 +1 validated p.R1288Q 0.364 138 0% 102 34.3% 51 45% probably_damaging(0.972) tolerated(0.13) deleterious(0.666) NULL MLLT4 4301 genome.wustl.edu 37 6 168352266 168352266 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040001.1 +1 validated p.V1403A 0.780 59 0% 56 23.2% 63 20.6% benign(0) tolerated(1) - NULL DACT2 168002 genome.wustl.edu 37 6 168709387 168709387 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_214462.3 -1 validated p.S350 0.000 6 0.000 10 0.600 13 61.5% - - - NULL THBS2 7058 genome.wustl.edu 37 6 169620332 169620332 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003247.2 -1 reviewed p.E1158K 1.000 52 0% 62 35.5% 7 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_TSP_C,superfamily_ConA_like_lec_gl PHF10 55274 genome.wustl.edu 37 6 170118909 170118909 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018288.3 -1 reviewed p.V100 1.000 261 0% 132 53% 45 55.5% - - - NULL C6orf70 55780 genome.wustl.edu 37 6 170156511 170156511 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018341.1 +1 validated p.S131 0.130 351 0% 187 38% 4 0% - - - NULL LINC00242 401288 genome.wustl.edu 37 6 170190645 170190645 + RNA SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_026781.1 -1 validated NULL 0.001 39 0% 49 34.7% 0 - - - - - LINC00242 401288 genome.wustl.edu 37 6 170190764 170190764 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_026781.1 -1 validated NULL 0.000 13 0% 11 54.5% 0 - - - - - LINC00574 80069 genome.wustl.edu 37 6 170201327 170201327 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_026780.1 +1 validated NULL 0.003 64 0% 99 41.4% 0 - - - - - DLL1 28514 genome.wustl.edu 37 6 170594014 170594014 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005618.3 -1 reviewed p.C414W 0.676 54 0% 65 49.2% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin FAM120B 84498 genome.wustl.edu 37 6 170626903 170626903 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032448.1 +1 provisional p.R142Q 0.004 49 0% 42 45.2% 6 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_PIN domain-like FAM120B 84498 genome.wustl.edu 37 6 170627241 170627241 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032448.1 +1 provisional p.E255* 0.000 104 0% 64 45.3% 1 100% - - - NULL FAM120B 84498 genome.wustl.edu 37 6 170627600 170627600 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032448.1 +1 provisional p.R374 0.000 143 0% 87 44.8% 12 50% - - - NULL FAM120B 84498 genome.wustl.edu 37 6 170657246 170657246 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032448.1 +1 provisional p.T675 0.810 83 0% 32 37.5% 5 80% - - - PatternScan_FGGY_KINASES_1 LOC100132858 100132858 genome.wustl.edu 37 7 19842 19842 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001715131.2 -1 model p.G381S 0.013 512 0% 250 9.6% 0 - - - - NULL LOC100132858 100132858 genome.wustl.edu 37 7 32979 32979 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001715131.2 -1 model p.A164V 0.003 87 0% 119 24.4% 0 - - - - NULL FAM20C 56975 genome.wustl.edu 37 7 195652 195652 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020223.2 +1 validated p.R235Q 1.000 24 0% 31 83.9% 5 40% probably_damaging(0.982) tolerated(0.08) deleterious(0.726) NULL PRKAR1B 5575 genome.wustl.edu 37 7 635852 635852 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000400758 -1 known p.R74Q 0.503 14 0% 29 75.9% 23 56.5% - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,PatternScan_CNMP_BINDING_2,superfamily_cAMP-binding domain-like SUN1 23353 genome.wustl.edu 37 7 900018 900018 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130965.2 +1 reviewed p.A593V 1.000 21 0% 30 26.7% 111 34.2% possibly_damaging(0.484) tolerated(0.06) deleterious(0.483) NULL GPR146 115330 genome.wustl.edu 37 7 1098099 1098099 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138445.2 +1 provisional p.C316 0.286 32 0% 38 23.7% 7 14.2% - - - superfamily_Family A G protein-coupled receptor-like GPER 2852 genome.wustl.edu 37 7 1131550 1131550 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039966.1 +1 reviewed p.S62 0.960 55 1.8% 63 66.7% 0 - - - - superfamily_Family A G protein-coupled receptor-like TMEM184A 202915 genome.wustl.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC rs112463195 byCluster;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001097620.1 -1 validated p.392in_frame_insG 0.000:0.000 - - - - - - - - - NULL MAD1L1 8379 genome.wustl.edu 37 7 1938025 1938025 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013836.1 -1 reviewed p.E603 1.000 61 0% 74 16.2% 27 14.8% - - - HMMPfam_MAD MAD1L1 8379 genome.wustl.edu 37 7 2020131 2020131 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013836.1 -1 reviewed p.E488K 0.019 22 4.5% 24 41.7% 38 42.1% benign(0.018) tolerated(0.23) neutral(0.042) HMMPfam_MAD MAD1L1 8379 genome.wustl.edu 37 7 2188797 2188797 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013836.1 -1 reviewed p.V355I 0.060 47 0% 61 11.5% 24 4.1% benign(0) tolerated(1) - HMMPfam_MAD MAD1L1 8379 genome.wustl.edu 37 7 2265071 2265071 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013836.1 -1 reviewed p.A89S 0.996 46 0% 61 29.5% 37 32.4% benign(0.388) tolerated(0.06) neutral(0.447) HMMPfam_MAD NUDT1 4521 genome.wustl.edu 37 7 2284282 2284282 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198949.1 +1 reviewed p.R48* 1.000 29 0% 42 42.9% 39 0% - - - HMMPfam_NUDIX,superfamily_Nudix SNX8 29886 genome.wustl.edu 37 7 2314785 2314785 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013321.1 -1 provisional p.R127H 1.000 45 0% 65 27.7% 27 29.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain CHST12 55501 genome.wustl.edu 37 7 2473386 2473386 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018641.3 +1 validated p.R371M 1.000 11 0% 15 33.3% 49 28.5% probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_Sulfotransfer_2 LFNG 3955 genome.wustl.edu 37 7 2564327 2564327 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040167.1 +1 reviewed e2-2 1.000 4 0.000 9 0.444 2 100% - - - - BRAT1 221927 genome.wustl.edu 37 7 2583347 2583347 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152743.2 -1 provisional p.R227H 0.555 7 0.000 10 0.400 82 17% benign(0.016) tolerated(0.4) neutral(0.017) superfamily_ARM repeat GNA12 2768 genome.wustl.edu 37 7 2771086 2771086 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007353.2 -1 validated p.I292S 1.000 68 0% 70 28.6% 77 31.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,superfamily_SSF52540 CARD11 84433 genome.wustl.edu 37 7 2959200 2959200 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032415.3 -1 validated p.S772 0.000 24 0% 16 37.5% 1 0% - - - NULL CARD11 84433 genome.wustl.edu 37 7 2984022 2984022 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032415.3 -1 validated p.R170C 0.974 20 0% 27 59.3% 0 - possibly_damaging(0.847) deleterious(0.05) deleterious(0.670) NULL CARD11 84433 genome.wustl.edu 37 7 2987363 2987363 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032415.3 -1 validated p.L22 0.989 132 0% 137 15.3% 0 - - - - superfamily_DEATH_like SDK1 221935 genome.wustl.edu 37 7 4116720 4116720 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152744.3 +1 validated p.G1034D 1.000 47 0% 66 62.1% 10 80% probably_damaging(1) tolerated(0.44) deleterious(0.512) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SDK1 221935 genome.wustl.edu 37 7 4277346 4277346 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152744.3 +1 validated p.I2020 0.603 90 0% 112 64.3% 9 66.6% - - - NULL PAPOLB 56903 genome.wustl.edu 37 7 4900162 4900162 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020144.4 -1 validated p.E427G 1.000 406 0% 356 62.4% 0 - benign(0.011) deleterious(0.03) neutral(0.365) HMMPfam_PAP_RNA-bind,superfamily_PAP_C RBAK 57786 genome.wustl.edu 37 7 5103356 5103356 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021163.3 +1 reviewed p.R90I 0.000 175 0% 115 28.7% 13 7.6% benign(0.349) deleterious(0) deleterious(0.555) NULL RBAK 57786 genome.wustl.edu 37 7 5104310 5104310 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021163.3 +1 reviewed p.K408T 0.999 94 0% 65 56.9% 9 66.6% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RBAK 57786 genome.wustl.edu 37 7 5104513 5104513 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021163.3 +1 reviewed p.R476W 0.939 118 0% 67 37.3% 3 0% benign(0.003) tolerated(0.07) neutral(0.319) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers WIPI2 26100 genome.wustl.edu 37 7 5270545 5270545 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015610.3 +1 validated p.S444 0.163 29 0% 38 26.3% 154 30.5% - - - NULL TNRC18 84629 genome.wustl.edu 37 7 5363878 5363878 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080495.2 -1 provisional p.R2137C 0.008 37 0% 51 33.3% 84 27.3% unknown(0) - - NULL TNRC18 84629 genome.wustl.edu 37 7 5410045 5410045 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080495.2 -1 provisional p.A1394T 1.000 47 0% 48 12.5% 97 9.2% possibly_damaging(0.842) deleterious(0) deleterious(0.766) NULL FBXL18 80028 genome.wustl.edu 37 7 5541277 5541277 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024963.4 -1 validated p.R208H 0.938 7 0.000 10 0.700 19 68.4% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL RNF216 54476 genome.wustl.edu 37 7 5752344 5752344 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207111.2 -1 reviewed e11+2 1.000 21 0% 10 40% 1 100% - - - - RNF216 54476 genome.wustl.edu 37 7 5780887 5780887 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207111.2 -1 reviewed p.R254Q 1.000 93 1.1% 86 30.2% 17 5.8% probably_damaging(0.963) tolerated(0.41) neutral(0.421) NULL AIMP2 7965 genome.wustl.edu 37 7 6063059 6063059 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006303.3 +1 validated p.D234Y 1.000 111 0% 130 25.4% 102 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GST_C_like USP42 84132 genome.wustl.edu 37 7 6150834 6150834 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032172.2 +1 validated p.E24K 0.978 91 0% 108 27.8% 6 33.3% possibly_damaging(0.49) deleterious(0.03) deleterious(0.527) NULL DAGLB 221955 genome.wustl.edu 37 7 6476141 6476141 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139179.3 -1 validated p.R91W 0.975 47 0% 57 31.6% 18 27.7% unknown(0) deleterious(0) - NULL GRID2IP 392862 genome.wustl.edu 37 7 6579485 6579485 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145118.1 -1 validated p.D150N 1.000 15 0% 27 74.1% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL RSPH10B2 728194 genome.wustl.edu 37 7 6821021 6821021 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099697.1 +1 provisional p.E558K 0.997 175 0% 157 49.7% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL CCZ1B 221960 genome.wustl.edu 37 7 6863791 6863791 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198097.2 -1 predicted p.R107W 1.000 890 0% 755 39.1% 28 57.1% possibly_damaging(0.869) deleterious(0.03) deleterious(0.702) HMMPfam_DUF2049 COL28A1 340267 genome.wustl.edu 37 7 7398304 7398304 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037763.2 -1 validated p.N1113S 0.998 288 0.3% 122 37.7% 1 100% benign(0.007) tolerated(0.6) neutral(0.004) HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like ICA1 3382 genome.wustl.edu 37 7 8153571 8153571 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004968.2 -1 reviewed p.H478 0.814 113 0% 85 16.5% 43 11.6% - - - HMMPfam_ICA69 LOC340268 340268 genome.wustl.edu 37 7 9766193 9766193 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_041608.1 +1 model NULL 0.998 17 0% 22 40.9% 0 - - - - - LOC340268 340268 genome.wustl.edu 37 7 9767790 9767790 + RNA SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_041608.1 +1 model NULL 0.984 62 0% 31 48.4% 0 - - - - - ENSG00000248675 0 genome.wustl.edu 37 7 10490874 10490874 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000510654 -1 known NULL 0.001 37 0% 15 46.7% 0 - - - - - ENSG00000248675 0 genome.wustl.edu 37 7 10491838 10491838 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000510654 -1 known NULL 0.993 46 0% 19 21.1% 0 - - - - - THSD7A 221981 genome.wustl.edu 37 7 11446671 11446671 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015204.2 -1 validated p.R1310 1.000 152 0% 79 43% 1 0% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THSD7A 221981 genome.wustl.edu 37 7 11581238 11581238 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015204.2 -1 validated p.R544C 0.104 65 0% 39 28.2% 0 - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat VWDE 221806 genome.wustl.edu 37 7 12409196 12409196 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135924.1 -1 provisional p.S912 0.670 99 0% 30 36.7% 1 100% - - - HMMSmart_SM00181,superfamily_EGF/Laminin LOC100287584 100287584 genome.wustl.edu 37 7 12725311 12725311 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342694.1 -1 model p.A19T 0.004 50 0% 41 46.3% 0 - - - - NULL DGKB 1607 genome.wustl.edu 37 7 14384939 14384939 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004080.2 -1 reviewed p.S639Y 1.000 323 0% 90 40% 0 - benign(0) tolerated(1) - HMMPfam_DAGK_acc,HMMSmart_SM00045 DGKB 1607 genome.wustl.edu 37 7 14661003 14661003 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004080.2 -1 reviewed p.Q429H 1.000 417 0.2% 119 21% 0 - benign(0.115) deleterious(0.05) neutral(0.354) NULL DGKB 1607 genome.wustl.edu 37 7 14741322 14741322 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004080.2 -1 reviewed p.G167D 1.000 268 0% 128 32.8% 0 - probably_damaging(0.973) tolerated(0.05) deleterious(0.760) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand MEOX2 4223 genome.wustl.edu 37 7 15666460 15666460 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005924.4 -1 reviewed p.E201* 1.000 910 0% 256 40.2% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like AHR 196 genome.wustl.edu 37 7 17373696 17373696 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001621.4 +1 validated p.T289I 1.000 203 0% 88 45.5% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) SNX13 23161 genome.wustl.edu 37 7 17930025 17930025 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015132.4 -1 reviewed p.R134M 1.000 240 0% 76 39.5% 10 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PXA,HMMSmart_SM00313 SNX13 23161 genome.wustl.edu 37 7 17931203 17931203 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015132.4 -1 reviewed p.T95M 0.997 270 0.4% 114 39.5% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNX13 23161 genome.wustl.edu 37 7 17936981 17936981 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015132.4 -1 reviewed p.F34C 1.000 305 0% 123 47.2% 6 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL HDAC9 9734 genome.wustl.edu 37 7 18706088 18706088 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178425.2 +1 reviewed p.F574L 1.000 109 0% 29 48.3% 6 16.6% benign(0.004) tolerated(0.47) neutral(0.011) NULL FERD3L 222894 genome.wustl.edu 37 7 19184631 19184631 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152898.2 -1 validated p.E119K 1.000 38 2.6% 29 44.8% 0 - possibly_damaging(0.559) tolerated(0.07) deleterious(0.510) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic ABCB5 340273 genome.wustl.edu 37 7 20682910 20682910 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000404938 +1 known p.R140* 1.000 183 0% 66 45.5% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain SP4 6671 genome.wustl.edu 37 7 21468386 21468386 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003112.3 +1 validated p.K33N 1.000 103 0% 94 37.2% 2 100% probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL SP4 6671 genome.wustl.edu 37 7 21469838 21469838 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003112.3 +1 validated p.A352D 1.000 40 0% 30 53.3% 4 50% benign(0.042) tolerated(0.56) neutral(0.009) NULL DNAH11 8701 genome.wustl.edu 37 7 21641062 21641062 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003777.3 +1 reviewed p.Q1158 0.300 196 0% 63 46% 1 0% - - - NULL DNAH11 8701 genome.wustl.edu 37 7 21646327 21646327 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003777.3 +1 reviewed p.E1276D 0.426 297 0% 134 50% 0 - benign(0.001) tolerated(0.48) neutral(0.011) NULL DNAH11 8701 genome.wustl.edu 37 7 21654843 21654843 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003777.3 +1 reviewed p.E1322* 1.000 414 0.2% 162 41.4% 2 50% - - - HMMPfam_DHC_N2 DNAH11 8701 genome.wustl.edu 37 7 21678629 21678629 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003777.3 +1 reviewed p.F1635 1.000 380 0% 164 41.5% 2 100% - - - HMMPfam_DHC_N2 DNAH11 8701 genome.wustl.edu 37 7 21760399 21760399 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003777.3 +1 reviewed p.S2404 0.996 376 0% 152 45.4% 0 - - - - NULL DNAH11 8701 genome.wustl.edu 37 7 21778401 21778401 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003777.3 +1 reviewed p.D2583 0.972 255 0% 101 44.6% 1 0% - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21901567 21901567 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003777.3 +1 reviewed p.A3774T 0.579 61 0% 28 35.7% 0 - benign(0.028) tolerated(0.54) neutral(0.009) NULL CDCA7L 55536 genome.wustl.edu 37 7 21942620 21942620 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018719.4 -1 validated p.D437V 0.969 165 0% 89 34.8% 22 50% unknown(0) - - HMMPfam_zf-4CXXC_R1 MPP6 51678 genome.wustl.edu 37 7 24689345 24689345 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016447.2 +1 provisional p.R129C 1.000 251 0% 102 44.1% 2 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_PDZ domain-like MPP6 51678 genome.wustl.edu 37 7 24720039 24720039 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016447.2 +1 provisional p.F449C 1.000 270 0% 112 36.6% 6 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases C7orf31 136895 genome.wustl.edu 37 7 25182387 25182387 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138811.3 -1 validated p.P244H 1.000 425 0% 182 20.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HNRNPA2B1 3181 genome.wustl.edu 37 7 26233223 26233223 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031243.2 -1 reviewed p.Y283 1.000 210 0% 99 47.5% 586 44.1% unknown(0) - - NULL HOXA6 3203 genome.wustl.edu 37 7 27186944 27186944 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024014.2 -1 reviewed p.R142Q 1.000 35 0% 28 46.4% 5 20% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL ENSG00000248357 0 genome.wustl.edu 37 7 27497773 27497773 + RNA SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000506075 +1 novel NULL 0.986 24 0% 20 40% 9 0% - - - - WIPF3 644150 genome.wustl.edu 37 7 29928929 29928929 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000242140 +1 known p.F419 0.997 194 0% 152 34.9% 6 50% - - - NULL SCRN1 9805 genome.wustl.edu 37 7 29983741 29983741 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000427249 -1 known p.L169I 0.811 183 0.5% 103 43.7% 44 54.5% - - - NULL PLEKHA8 84725 genome.wustl.edu 37 7 30084784 30084784 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032639.2 +1 provisional p.G42W 1.000 246 0% 117 40.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PLEKHA8 84725 genome.wustl.edu 37 7 30090049 30090049 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032639.2 +1 provisional e6-1 1.000 362 0% 122 37.7% 0 - - - - - C7orf41 222166 genome.wustl.edu 37 7 30197108 30197108 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152793.2 +1 validated p.V114M 0.999 91 0% 49 18.4% 11 18.1% benign(0.003) deleterious(0) neutral(0.445) NULL NOD1 10392 genome.wustl.edu 37 7 30486650 30486650 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006092.2 -1 reviewed p.I768V 1.000 160 0% 96 36.5% 4 75% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) superfamily_SSF52047 GGCT 79017 genome.wustl.edu 37 7 30540215 30540215 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024051.2 -1 provisional p.P75H 1.000 355 0% 196 49% 37 29.7% possibly_damaging(0.78) deleterious(0.03) deleterious(0.656) HMMPfam_AIG2,superfamily_BtrG-like (Pfam 03674) FAM188B 84182 genome.wustl.edu 37 7 30868348 30868348 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032222.2 +1 validated p.R376L 0.252 72 0% 57 42.1% 2 0% benign(0) deleterious(0.03) neutral(0.364) NULL NEUROD6 63974 genome.wustl.edu 37 7 31378458 31378458 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022728.2 -1 provisional p.Y142C 1.000 218 0% 154 37% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain NEUROD6 63974 genome.wustl.edu 37 7 31378582 31378582 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022728.2 -1 provisional p.A101T 0.999 455 0% 365 43% 0 - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain CCDC129 223075 genome.wustl.edu 37 7 31683217 31683217 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194300.2 +1 validated p.A745T 0.000 72 0% 22 40.9% 0 - benign(0) tolerated(1) - NULL PDE1C 5137 genome.wustl.edu 37 7 31862831 31862831 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005020.1 -1 provisional p.R480* 1.000 58 0% 30 36.7% 0 - - - - superfamily_SSF109604 BMPER 168667 genome.wustl.edu 37 7 33976921 33976921 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133468.3 +1 validated p.K80 1.000 70 0% 40 55% 0 - - - - HMMSmart_VWC,PatternScan_VWFC_1 BMPER 168667 genome.wustl.edu 37 7 34192863 34192863 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133468.3 +1 validated p.P679L 1.000 41 0% 29 13.8% 0 - probably_damaging(0.989) tolerated(0.12) deleterious(0.700) superfamily_Cysrich_TIL,HMMPfam_TIL HERPUD2 64224 genome.wustl.edu 37 7 35709898 35709898 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022373.4 -1 validated p.R89Q 1.000 280 0% 121 40.5% 9 44.4% possibly_damaging(0.847) deleterious(0.02) deleterious(0.708) HMMPfam_ubiquitin,superfamily_SSF54236 EEPD1 80820 genome.wustl.edu 37 7 36194795 36194795 + Missense_Mutation SNP A A G rs111452772 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030636.2 +1 validated p.T288A 1.000 24 0% 20 40% 12 66.6% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Exo_endo_phos,superfamily_DNase I-like EEPD1 80820 genome.wustl.edu 37 7 36336701 36336701 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030636.2 +1 validated p.A472V 0.032 163 0% 117 40.2% 13 23% benign(0) tolerated(0.36) neutral(0.020) HMMPfam_Exo_endo_phos,superfamily_DNase I-like ANLN 54443 genome.wustl.edu 37 7 36445793 36445793 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018685.2 +1 validated p.D164V 0.906 54 0% 21 28.6% 19 57.8% benign(0.012) tolerated(0.2) neutral(0.050) NULL AOAH 313 genome.wustl.edu 37 7 36579931 36579931 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001637.3 -1 reviewed p.P434S 1.000 123 0% 49 38.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type AOAH 313 genome.wustl.edu 37 7 36713549 36713549 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001637.3 -1 reviewed p.L97 1.000 367 0% 175 50.9% 1 0% - - - HMMPfam_SapB_2,HMMSmart_SapB,superfamily_Saposin_like AOAH 313 genome.wustl.edu 37 7 36763722 36763722 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001637.3 -1 reviewed p.A11V 0.000 42 0% 27 33.3% 0 - unknown(0) deleterious(0) - NULL ELMO1 9844 genome.wustl.edu 37 7 37262259 37262259 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000433246 -1 known p.L12S 0.930 176 0% 81 53.1% 6 33.3% - - - NULL TXNDC3 51314 genome.wustl.edu 37 7 37924015 37924015 + Missense_Mutation SNP G G T rs111988623 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016616.4 +1 reviewed p.D369Y 0.993 202 0% 73 52.1% 0 - possibly_damaging(0.904) deleterious(0) deleterious(0.803) HMMSmart_NDK,superfamily_NDK TXNDC3 51314 genome.wustl.edu 37 7 37936638 37936638 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016616.4 +1 reviewed p.A571T 0.000 165 0% 47 48.9% 0 - benign(0) tolerated(0.62) neutral(0.004) HMMPfam_NDK,HMMSmart_NDK,superfamily_NDK SFRP4 6424 genome.wustl.edu 37 7 37951727 37951727 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003014.3 -1 reviewed p.R262H 1.000 129 0% 92 41.3% 6 0% benign(0.167) deleterious(0) neutral(0.460) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C AMPH 273 genome.wustl.edu 37 7 38431466 38431466 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441628 -1 known p.A470T 0.848 41 0% 30 36.7% 4 50% - - - NULL AMPH 273 genome.wustl.edu 37 7 38433732 38433732 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001635.2 -1 reviewed p.A494V 0.759 31 0% 31 32.3% 3 66.6% benign(0.248) tolerated(0.24) neutral(0.062) NULL POU6F2 11281 genome.wustl.edu 37 7 39125562 39125562 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007252.3 +1 reviewed p.E41K 1.000 100 0% 51 35.3% 0 - possibly_damaging(0.653) deleterious(0.02) deleterious(0.613) NULL POU6F2 11281 genome.wustl.edu 37 7 39500223 39500223 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007252.3 +1 reviewed p.R494W 1.000 39 0% 28 60.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_1,superfamily_lambda repressor-like DNA-binding domains ENSG00000249078 0 genome.wustl.edu 37 7 39894066 39894066 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000507268 +1 known NULL 0.000 387 0% 251 42.6% 12 0% - - - - CDK13 8621 genome.wustl.edu 37 7 40127819 40127819 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003718.4 +1 reviewed p.A1042S 1.000 109 0% 65 12.3% 15 6.6% possibly_damaging(0.888) tolerated(0.06) deleterious(0.670) superfamily_Protein kinase-like (PK-like) CDK13 8621 genome.wustl.edu 37 7 40132607 40132607 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003718.4 +1 reviewed p.S1153 0.976 154 0% 73 34.2% 25 40% - - - NULL CDK13 8621 genome.wustl.edu 37 7 40133791 40133791 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003718.4 +1 reviewed p.R1251W 0.703 66 0% 42 54.8% 39 43.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL CDK13 8621 genome.wustl.edu 37 7 40133977 40133977 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003718.4 +1 reviewed p.D1313N 1.000 144 0% 82 41.5% 32 31.2% possibly_damaging(0.475) tolerated(0.12) neutral(0.417) NULL MPLKIP 136647 genome.wustl.edu 37 7 40173858 40173858 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138701.3 -1 reviewed p.Y103* 1.000 18 0% 15 53.3% 64 65.6% - - - NULL C7orf10 79783 genome.wustl.edu 37 7 40356435 40356435 + Missense_Mutation SNP G G A rs190351996 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024728.1 +1 provisional p.G236D 0.994 162 0.6% 65 36.9% 1 0% possibly_damaging(0.659) deleterious(0.01) deleterious(0.638) HMMPfam_CoA_transf_3,superfamily_CoA-Trfase_fam_III INHBA 3624 genome.wustl.edu 37 7 41729601 41729601 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002192.2 -1 reviewed p.R310W 1.000 35 0% 33 30.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL INHBA 3624 genome.wustl.edu 37 7 41729775 41729775 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002192.2 -1 reviewed p.A252T 1.000 28 0% 34 32.4% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_TGFb_propeptide HECW1 23072 genome.wustl.edu 37 7 43351633 43351633 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015052.3 +1 validated p.W100L 1.000 56 0% 41 34.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL HECW1 23072 genome.wustl.edu 37 7 43436461 43436461 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015052.3 +1 validated p.R202W 0.999 261 0.4% 109 48.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HECW1 23072 genome.wustl.edu 37 7 43580859 43580859 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015052.3 +1 validated p.L1373M 1.000 124 0% 82 30.5% 0 - probably_damaging(0.977) deleterious(0.05) deleterious(0.764) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT MRPS24 64951 genome.wustl.edu 37 7 43906355 43906355 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032014.2 -1 validated p.C149 1.000 57 0% 47 59.6% 281 47.6% - - - NULL URGCP 55665 genome.wustl.edu 37 7 43918101 43918101 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077663.1 -1 validated p.G321R 1.000 48 0% 44 27.3% 16 18.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL URGCP 55665 genome.wustl.edu 37 7 43918223 43918223 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077663.1 -1 validated p.N280S 0.997 21 0% 18 27.8% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBE2D4 51619 genome.wustl.edu 37 7 43990205 43990205 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015983.2 +1 provisional p.L104 1.000 106 0% 61 36.1% 9 55.5% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like AEBP1 165 genome.wustl.edu 37 7 44151764 44151764 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001129.3 +1 reviewed p.A687 0.000 55 0% 56 35.7% 24 0% - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CAMK2B 816 genome.wustl.edu 37 7 44259689 44259689 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001220.4 -1 reviewed p.S658L 1.000 13 0% 11 54.5% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_CaMKII_AD,superfamily_SSF54427 NPC1L1 29881 genome.wustl.edu 37 7 44556414 44556414 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013389.2 -1 reviewed p.R1163H 1.000 36 0% 26 38.5% 0 - benign(0.089) tolerated(0.56) neutral(0.013) HMMPfam_Patched,superfamily_SSF82866 DDX56 54606 genome.wustl.edu 37 7 44609492 44609492 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019082.2 -1 reviewed p.A379T 1.000 58 0% 55 38.2% 82 46.3% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases ZMIZ2 83637 genome.wustl.edu 37 7 44806140 44806140 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031449.3 +1 validated p.R845W 0.997 21 0% 16 56.2% 77 41.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO1G 64005 genome.wustl.edu 37 7 45010464 45010464 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033054.2 -1 validated p.E347 1.000 12 0% 19 73.7% 3 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CCM2 83605 genome.wustl.edu 37 7 45104116 45104116 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029835.2 +1 reviewed p.L136 1.000 12 0% 20 25% 40 15% - - - NULL NACAD 23148 genome.wustl.edu 37 7 45121879 45121879 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000490531 -1 known p.R1296H 0.000 15 0% 17 47.1% 2 0% - - - NULL ADCY1 107 genome.wustl.edu 37 7 45699689 45699689 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021116.2 +1 reviewed p.Y452 0.997 172 0% 125 42.4% 7 28.5% - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ADCY1 107 genome.wustl.edu 37 7 45701798 45701798 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021116.2 +1 reviewed p.C530 0.812 43 0% 41 43.9% 1 100% - - - NULL ADCY1 107 genome.wustl.edu 37 7 45725707 45725707 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021116.2 +1 reviewed p.P740 0.246 54 0% 30 33.3% 1 0% - - - NULL ADCY1 107 genome.wustl.edu 37 7 45743334 45743334 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021116.2 +1 reviewed p.D903N 1.000 29 0% 26 50% 0 - possibly_damaging(0.739) deleterious(0.01) deleterious(0.676) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase IGFBP3 3486 genome.wustl.edu 37 7 45957006 45957006 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013398.1 -1 reviewed p.A152T 0.000 57 0% 48 52.1% 72 13.8% benign(0.001) tolerated(0.65) neutral(0.003) NULL TNS3 64759 genome.wustl.edu 37 7 47342588 47342588 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022748.10 -1 validated p.P1139 0.001 20 0% 21 47.6% 20 35% - - - NULL C7orf65 401335 genome.wustl.edu 37 7 47698354 47698354 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001123065.1 +1 validated p.R45I 0.001 105 0% 54 53.7% 0 - unknown(0) - - NULL PKD1L1 168507 genome.wustl.edu 37 7 47842840 47842840 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138295.2 -1 reviewed p.R2644C 0.000 123 0% 73 42.5% 0 - benign(0.008) tolerated(0.11) neutral(0.272) HMMPfam_PKD_channel PKD1L1 168507 genome.wustl.edu 37 7 47876602 47876602 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138295.2 -1 reviewed p.T1954A 0.979 19 0% 23 43.5% 0 - probably_damaging(0.99) tolerated(0.44) neutral(0.454) NULL PKD1L1 168507 genome.wustl.edu 37 7 47879153 47879153 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138295.2 -1 reviewed p.T1887M 0.007 6 0.000 5 0.800 0 - possibly_damaging(0.877) tolerated(0.05) deleterious(0.687) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) PKD1L1 168507 genome.wustl.edu 37 7 47924213 47924213 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138295.2 -1 reviewed p.S1083L 0.006 257 0% 124 52.4% 0 - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL PKD1L1 168507 genome.wustl.edu 37 7 47937618 47937618 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138295.2 -1 reviewed p.T746 0.040 68 0% 58 13.8% 1 100% - - - HMMPfam_REJ PKD1L1 168507 genome.wustl.edu 37 7 47976473 47976473 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138295.2 -1 reviewed p.A123V 0.000 275 0% 182 33.5% 0 - benign(0) - - NULL C7orf57 136288 genome.wustl.edu 37 7 48089549 48089549 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100159.1 +1 validated p.G194* 0.013 30 0% 26 46.2% 0 - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48682925 48682925 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152701.3 +1 reviewed p.E4960A 0.045 374 0% 129 38.8% 0 - benign(0.394) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48682991 48682991 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152701.3 +1 reviewed e60+2 1.000 310 0% 119 27.7% 0 - - - - - VWC2 375567 genome.wustl.edu 37 7 49951736 49951736 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198570.3 +1 reviewed p.I311 0.102 37 0% 27 48.1% 0 - - - - NULL IKZF1 10320 genome.wustl.edu 37 7 50444351 50444351 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000331340 +1 known p.G94A 1.000 165 0% 113 37.2% 1 0% probably_damaging(1) tolerated(0.42) deleterious(0.514) NULL IKZF1 10320 genome.wustl.edu 37 7 50444451 50444451 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006060.3 +1 validated p.S74L 1.000 85 0% 56 42.9% 0 - - - - NULL GRB10 2887 genome.wustl.edu 37 7 50685831 50685831 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005311.4 -1 reviewed p.F261L 1.000 121 0% 82 43.9% 0 - benign(0.035) tolerated(0.18) neutral(0.058) NULL COBL 23242 genome.wustl.edu 37 7 51203910 51203910 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015198.3 -1 validated p.R301Q 0.993 41 0% 36 50% 4 25% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Cobl POM121L12 285877 genome.wustl.edu 37 7 53104142 53104142 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182595.3 +1 validated p.A260T 0.000 13 0% 11 36.4% 0 - benign(0.15) tolerated(0.07) neutral(0.332) NULL VSTM2A 222008 genome.wustl.edu 37 7 54617712 54617712 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182546.2 +1 validated p.E161D 1.000 44 0% 45 15.6% 0 - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL EGFR 1956 genome.wustl.edu 37 7 55241718 55241718 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005228.3 +1 reviewed p.A722 0.377 66 0% 45 46.7% 8 87.5% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP ZNF713 349075 genome.wustl.edu 37 7 56007478 56007478 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182633.1 +1 provisional p.E358K 0.571 91 0% 56 42.9% 9 66.6% benign(0.101) tolerated(0.7) neutral(0.009) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CCT6A 908 genome.wustl.edu 37 7 56125722 56125722 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001762.3 +1 reviewed p.R217 0.988 89 0% 66 47% 173 49.1% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029,superfamily_SSF54849 SUMF2 25870 genome.wustl.edu 37 7 56140716 56140716 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130069.1 +1 reviewed p.R103Q 0.998 405 0.2% 253 45.5% 49 40.8% unknown(0) - - HMMPfam_DUF323 PHKG1 5260 genome.wustl.edu 37 7 56148986 56148986 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006213.3 -1 reviewed p.A309T 0.062 6 0.000 9 0.556 1 0% benign(0.148) deleterious(0) neutral(0.458) superfamily_Protein kinase-like (PK-like) ZNF479 90827 genome.wustl.edu 37 7 57188172 57188172 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033273.1 -1 provisional p.R317I 0.617 87 0% 26 15.4% 0 - benign(0) tolerated(0.34) neutral(0.023) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF679 168417 genome.wustl.edu 37 7 63720700 63720700 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153363.2 +1 validated p.E47D 0.916 344 0% 99 36.4% 0 - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF679 168417 genome.wustl.edu 37 7 63727135 63727135 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153363.2 +1 validated p.T375N 1.000 140 0% 43 48.8% 0 - possibly_damaging(0.918) deleterious(0) deleterious(0.813) superfamily_C2H2 and C2HC zinc fingers ZNF107 51427 genome.wustl.edu 37 7 64167324 64167324 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013746.1 +1 validated p.K214 1.000 72 0% 26 42.3% 2 100% - - - superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64168034 64168034 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013746.1 +1 validated p.Q451R 0.001 67 0% 25 52% 5 20% benign(0.003) tolerated(0.4) neutral(0.016) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64168145 64168145 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013746.1 +1 validated p.R488I 0.998 70 0% 25 44% 4 50% benign(0.01) tolerated(0.15) neutral(0.241) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64168224 64168224 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013746.1 +1 validated p.H514 0.057 117 0% 37 35.1% 9 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64168432 64168432 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013746.1 +1 validated p.E584* 0.014 112 0% 38 10.5% 6 0% - - - superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64168542 64168542 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013746.1 +1 validated p.F620L 0.000 57 1.8% 35 34.3% 7 28.5% unknown(0) tolerated(0.68) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ERV3-1 2086 genome.wustl.edu 37 7 64453369 64453369 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007253.3 -1 reviewed p.F12L 0.788 42 0% 20 55% 9 22.2% unknown(0) deleterious(0) - NULL ZNF92 168374 genome.wustl.edu 37 7 64853769 64853769 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152626.2 +1 validated p.E61K 0.976 386 0% 196 45.4% 8 37.5% benign(0.092) tolerated(0.07) neutral(0.326) HMMSmart_SM00349 VKORC1L1 154807 genome.wustl.edu 37 7 65419170 65419170 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173517.3 +1 validated p.F138L 1.000 78 0% 42 40.5% 38 44.7% possibly_damaging(0.907) tolerated(0.09) deleterious(0.657) HMMPfam_VKOR,HMMSmart_VKc GUSB 2990 genome.wustl.edu 37 7 65426047 65426047 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000181.3 -1 reviewed p.P598L 0.990 68 0% 56 50% 85 48.2% benign(0.003) tolerated(0.11) neutral(0.272) HMMPfam_Glyco_hydro_2_C,superfamily_(Trans)glycosidases C7orf42 55069 genome.wustl.edu 37 7 66410084 66410084 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017994.4 +1 validated p.A94V 1.000 70 0% 37 45.9% 44 45.4% benign(0.024) deleterious(0.04) neutral(0.350) NULL SBDS 51119 genome.wustl.edu 37 7 66460318 66460318 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016038.2 -1 reviewed p.I29 1.000 29 0% 21 57.1% 56 57.1% - - - HMMPfam_SBDS,superfamily_FYSH domain AUTS2 26053 genome.wustl.edu 37 7 70229839 70229839 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015570.2 +1 validated p.S439N 1.000 41 0% 40 17.5% 19 15.7% possibly_damaging(0.907) tolerated(0.25) neutral(0.397) NULL AUTS2 26053 genome.wustl.edu 37 7 70255895 70255895 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015570.2 +1 validated p.P1231 0.053 24 0% 15 73.3% 25 52% - - - NULL WBSCR17 64409 genome.wustl.edu 37 7 70885902 70885902 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022479.1 +1 reviewed p.P258L 1.000 29 0% 20 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases POM121 9883 genome.wustl.edu 37 7 72413793 72413793 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172020.1 +1 reviewed p.S822 0.000 16 0% 14 42.9% 21 4.7% - - - NULL BAZ1B 9031 genome.wustl.edu 37 7 72892541 72892541 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032408.3 -1 validated p.S417F 0.985 187 0% 113 38.9% 13 30.7% benign(0.396) tolerated(0.19) neutral(0.176) NULL BAZ1B 9031 genome.wustl.edu 37 7 72903722 72903722 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032408.3 -1 validated e6-1 1.000 160 0% 100 38% 0 - - - - - TBL2 26608 genome.wustl.edu 37 7 72985012 72985012 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012453.2 -1 reviewed p.S390F 1.000 13 0% 20 60% 64 43.7% probably_damaging(0.963) deleterious(0.02) deleterious(0.788) HMMSmart_WD40,superfamily_WD40_like TBL2 26608 genome.wustl.edu 37 7 72987672 72987672 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012453.2 -1 reviewed p.I192 1.000 81 0% 91 13.2% 58 1.7% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 WBSCR22 114049 genome.wustl.edu 37 7 73106928 73106928 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000420399 +1 known p.S122F 0.330 56 0% 39 51.3% 99 51.5% unknown(0) - - NULL LIMK1 3984 genome.wustl.edu 37 7 73513390 73513390 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002314.2 +1 reviewed p.T144A 1.000 10 0% 18 33.3% 66 40.9% probably_damaging(0.986) tolerated(0.32) neutral(0.459) NULL LAT2 7462 genome.wustl.edu 37 7 73638512 73638512 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014146.3 +1 reviewed p.S205P 0.232 30 0% 22 18.2% 5 0% probably_damaging(0.991) tolerated(0.15) deleterious(0.685) NULL RFC2 5982 genome.wustl.edu 37 7 73654382 73654382 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000497430 -1 known p.D49N 1.000 39 0% 38 13.2% 60 6.6% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases RFC2 5982 genome.wustl.edu 37 7 73657547 73657547 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181471.1 -1 reviewed p.R155M 1.000 161 0% 112 48.2% 73 63% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases CLIP2 7461 genome.wustl.edu 37 7 73774561 73774561 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003388.4 +1 reviewed p.V424 0.775 21 0% 38 34.2% 8 37.5% - - - NULL GTF2IRD1 9569 genome.wustl.edu 37 7 73933876 73933876 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016328.1 +1 reviewed p.A248V 0.010 16 0% 10 60% 28 46.4% possibly_damaging(0.832) tolerated(0.47) neutral(0.328) NULL GTF2I 2969 genome.wustl.edu 37 7 74105416 74105416 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032999.2 +1 reviewed p.D71Y 1.000 145 0% 123 37.4% 30 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100132585 100132585 genome.wustl.edu 37 7 74326954 74326954 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001722111.2 -1 model p.L131M 0.261 552 0% 363 25.1% 0 - - - - NULL POM121C 100101267 genome.wustl.edu 37 7 75048604 75048604 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099415.1 -1 validated p.F955 0.142 36 0% 13 61.5% 32 43.7% - - - NULL HIP1 3092 genome.wustl.edu 37 7 75171258 75171258 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005338.4 -1 reviewed p.R978C 1.000 121 0% 79 35.4% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_I_LWEQ,HMMSmart_SM00307 HIP1 3092 genome.wustl.edu 37 7 75184733 75184733 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005338.4 -1 reviewed p.C650 0.952 29 0% 20 50% 8 25% - - - NULL HIP1 3092 genome.wustl.edu 37 7 75191402 75191402 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005338.4 -1 reviewed p.Q365E 1.000 199 0% 104 37.5% 8 62.5% possibly_damaging(0.888) tolerated(0.24) neutral(0.385) NULL RHBDD2 57414 genome.wustl.edu 37 7 75511299 75511299 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040456.1 +1 validated p.A111T 0.994 88 0% 56 17.9% 141 15.6% possibly_damaging(0.509) deleterious(0.04) deleterious(0.519) HMMPfam_Rhomboid ZP3 7784 genome.wustl.edu 37 7 76071161 76071161 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001110354.1 +1 reviewed p.T355A 0.980 254 0.4% 114 41.2% 47 21.2% benign(0.222) tolerated(0.61) neutral(0.026) NULL LOC100288807 100288807 genome.wustl.edu 37 7 76689774 76689774 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342739.1 -1 model p.T19R 0.013 82 0% 37 40.5% 1 0% - - - NULL CCDC146 57639 genome.wustl.edu 37 7 76866337 76866337 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020879.2 +1 validated p.A77V 0.572 134 0% 65 50.8% 0 - benign(0.01) tolerated(0.1) neutral(0.287) NULL PTPN12 5782 genome.wustl.edu 37 7 77227175 77227175 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002835.3 +1 reviewed p.R170K 1.000 338 0% 140 40.7% 33 42.4% probably_damaging(0.997) tolerated(0.59) deleterious(0.471) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPN12 5782 genome.wustl.edu 37 7 77240311 77240311 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002835.3 +1 reviewed p.K296T 1.000 429 0% 251 44.6% 45 51.1% probably_damaging(1) tolerated(0.14) deleterious(0.750) superfamily_SSF52799 RSBN1L 222194 genome.wustl.edu 37 7 77408007 77408007 + Nonsense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441514 +1 known p.Y159* 0.999 140 0% 69 33.3% 32 21.8% - - - NULL PHTF2 57157 genome.wustl.edu 37 7 77569504 77569504 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127357.1 +1 validated p.G508D 1.000 521 0% 260 44.6% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAGI2 9863 genome.wustl.edu 37 7 77756687 77756687 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012301.3 -1 reviewed p.R1084* 1.000 95 0% 66 54.5% 0 - - - - NULL MAGI2 9863 genome.wustl.edu 37 7 77885458 77885458 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012301.3 -1 reviewed p.F617L 1.000 51 0% 42 47.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00228,superfamily_PDZ domain-like GNAT3 346562 genome.wustl.edu 37 7 80117912 80117912 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102386.1 -1 provisional p.I81T 1.000 382 0% 98 49% 0 - possibly_damaging(0.792) deleterious(0) deleterious(0.742) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CD36 948 genome.wustl.edu 37 7 80303300 80303300 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000072.3 +1 reviewed p.T419I 1.000 248 0% 90 37.8% 1 0% possibly_damaging(0.807) deleterious(0) deleterious(0.748) HMMPfam_CD36 CACNA2D1 781 genome.wustl.edu 37 7 81746370 81746370 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000722.2 -1 reviewed p.I172 1.000 247 0% 84 46.4% 6 50% - - - HMMPfam_VWA_N PCLO 27445 genome.wustl.edu 37 7 82579619 82579619 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033026.5 -1 validated p.N3429D 0.232 299 0% 123 40.7% 3 33.3% benign(0.073) - - NULL PCLO 27445 genome.wustl.edu 37 7 82580538 82580538 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033026.5 -1 validated p.H3122 0.234 88 0% 60 18.3% 1 0% - - - NULL PCLO 27445 genome.wustl.edu 37 7 82581556 82581556 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033026.5 -1 validated p.S2905P 1.000 165 0% 75 57.3% 1 0% possibly_damaging(0.803) - - NULL PCLO 27445 genome.wustl.edu 37 7 82584232 82584232 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033026.5 -1 validated p.E2013* 1.000 94 0% 41 36.6% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82586186 82586186 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033026.5 -1 validated p.S1361 1.000 109 0% 62 50% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82785344 82785344 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033026.5 -1 validated p.G205* 0.481 589 0% 397 38.3% 0 - - - - NULL SEMA3D 223117 genome.wustl.edu 37 7 84644455 84644455 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152754.2 -1 validated p.C541 1.000 84 0% 24 37.5% 14 42.8% - - - HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold KIAA1324L 222223 genome.wustl.edu 37 7 86537818 86537818 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142749.2 -1 validated p.E801K 1.000 583 0% 143 28.7% 3 33.3% benign(0.003) tolerated(0.52) neutral(0.009) superfamily_Mannose 6-phosphate receptor domain DMTF1 9988 genome.wustl.edu 37 7 86813855 86813855 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142327.1 +1 reviewed p.C321 1.000 94 0% 40 27.5% 18 50% - - - HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding ABCB4 5244 genome.wustl.edu 37 7 87073033 87073033 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018849.2 -1 reviewed p.G392 0.933 416 0% 163 47.2% 0 - - - - NULL ABCB4 5244 genome.wustl.edu 37 7 87082356 87082356 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018849.2 -1 reviewed p.R147M 0.011 143 0% 55 43.6% 0 - benign(0.002) tolerated(0.21) neutral(0.044) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87179353 87179353 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000927.3 -1 reviewed p.Q456H 1.000 124 0% 65 47.7% 2 0% benign(0.001) tolerated(0.74) neutral(0.002) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases RUNDC3B 154661 genome.wustl.edu 37 7 87407141 87407141 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138290.2 +1 validated p.R293* 1.000 221 0% 61 41% 0 - - - - NULL RUNDC3B 154661 genome.wustl.edu 37 7 87407146 87407146 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138290.2 +1 validated p.E294D 1.000 223 0% 62 37.1% 1 100% probably_damaging(0.995) tolerated(0.1) deleterious(0.744) NULL DBF4 10926 genome.wustl.edu 37 7 87537317 87537317 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006716.3 +1 validated p.F622L 1.000 156 0% 56 46.4% 22 40.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAM22 53616 genome.wustl.edu 37 7 87704973 87704973 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021723.2 +1 reviewed p.H119R 0.994 491 0% 201 47.8% 2 100% possibly_damaging(0.63) tolerated(0.06) deleterious(0.542) HMMPfam_Pep_M12B_propep STEAP4 79689 genome.wustl.edu 37 7 87910241 87910241 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024636.2 -1 validated p.R380* 1.000 222 0% 72 43.1% 1 0% - - - HMMPfam_Ferric_reduct STEAP4 79689 genome.wustl.edu 37 7 87913209 87913209 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024636.2 -1 validated p.P126S 1.000 192 0% 65 47.7% 2 0% possibly_damaging(0.789) deleterious(0) deleterious(0.740) HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains ZNF804B 219578 genome.wustl.edu 37 7 88847565 88847565 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181646.2 +1 provisional p.E69K 1.000 164 0% 88 48.9% 0 - possibly_damaging(0.921) deleterious(0.01) deleterious(0.776) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 STEAP1 26872 genome.wustl.edu 37 7 89790549 89790549 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012449.2 +1 reviewed p.A172V 0.986 305 0% 153 43.1% 25 56% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ferric_reduct AKAP9 10142 genome.wustl.edu 37 7 91625056 91625056 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005751.4 +1 reviewed p.K291T 1.000 234 0% 72 40.3% 2 0% possibly_damaging(0.818) tolerated(0.57) neutral(0.315) NULL AKAP9 10142 genome.wustl.edu 37 7 91674383 91674383 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005751.4 +1 reviewed p.T1742A 1.000 156 0% 46 10.9% 0 - probably_damaging(0.987) tolerated(0.07) deleterious(0.756) NULL AKAP9 10142 genome.wustl.edu 37 7 91690610 91690610 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005751.4 +1 reviewed p.R1880C 1.000 78 0% 30 36.7% 5 60% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL AKAP9 10142 genome.wustl.edu 37 7 91735020 91735020 + Nonsense_Mutation SNP C C T rs183257184 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005751.4 +1 reviewed p.R3787* 0.999 434 0% 241 50.2% 13 15.3% - - - NULL KRIT1 889 genome.wustl.edu 37 7 91852280 91852280 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004912.3 -1 reviewed p.R423* 1.000 203 0% 80 55% 8 12.5% - - - HMMSmart_SM00295 ERVW-1 30816 genome.wustl.edu 37 7 92098099 92098099 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014590.3 -1 reviewed p.N533D 0.506 34 0% 18 61.1% 0 - benign(0.224) deleterious(0) neutral(0.467) NULL SAMD9 54809 genome.wustl.edu 37 7 92732446 92732446 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017654.2 -1 validated p.A989T 1.000 325 0.3% 149 43.6% 1 0% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL SAMD9 54809 genome.wustl.edu 37 7 92732492 92732492 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017654.2 -1 validated p.I973 0.000 391 0% 155 38.7% 2 0% - - - NULL SAMD9L 219285 genome.wustl.edu 37 7 92760681 92760681 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152703.2 -1 validated p.S1535F 0.197 198 0% 82 42.7% 4 0% probably_damaging(0.995) tolerated(1) neutral(0.458) NULL SAMD9L 219285 genome.wustl.edu 37 7 92763129 92763129 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152703.2 -1 validated p.K719T 0.000 87 0% 18 38.9% 0 - benign(0.001) tolerated(0.72) neutral(0.002) NULL CCDC132 55610 genome.wustl.edu 37 7 92885840 92885840 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017667.2 +1 validated p.D106A 1.000 487 0% 129 44.2% 2 50% possibly_damaging(0.891) deleterious(0.02) deleterious(0.734) HMMPfam_DUF2450 CCDC132 55610 genome.wustl.edu 37 7 92932812 92932812 + Missense_Mutation SNP A A G rs137879844 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017667.2 +1 validated p.T468A 1.000 274 0% 107 41.1% 5 20% benign(0.03) tolerated(0.41) neutral(0.017) NULL CALCR 799 genome.wustl.edu 37 7 93108741 93108741 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001742.3 -1 reviewed p.G44* 0.035 327 0.3% 81 18.5% 0 - - - - superfamily_SSF111418 COL1A2 1278 genome.wustl.edu 37 7 94047082 94047082 + Missense_Mutation SNP G G A rs72658148 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000089.3 +1 reviewed p.G637D 1.000 122 0% 69 24.6% 243 3.2% unknown(0) deleterious(0) - HMMPfam_Collagen COL1A2 1278 genome.wustl.edu 37 7 94048850 94048850 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000089.3 +1 reviewed p.A689V 0.995 299 0% 155 45.8% 222 5.8% unknown(0) tolerated(0.07) - NULL COL1A2 1278 genome.wustl.edu 37 7 94049915 94049915 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000089.3 +1 reviewed p.N750 1.000 65 0% 36 52.8% 206 9.7% - - - HMMPfam_Collagen COL1A2 1278 genome.wustl.edu 37 7 94057126 94057126 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000089.3 +1 reviewed p.P1152H 1.000 59 0% 28 39.3% 322 7.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COLFI,HMMSmart_SM00038 CASD1 64921 genome.wustl.edu 37 7 94178882 94178882 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022900.4 +1 validated p.S584F 1.000 727 0% 201 42.8% 6 50% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Cas1p PEG10 23089 genome.wustl.edu 37 7 94293706 94293706 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040152.1 +1 reviewed p.R280C 1.000 14 0% 11 45.5% 65 70.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PPP1R9A 55607 genome.wustl.edu 37 7 94540006 94540006 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017650.2 +1 validated p.R194Q 1.000 73 0% 70 54.3% 3 33.3% unknown(0) tolerated(0.07) - NULL PPP1R9A 55607 genome.wustl.edu 37 7 94855325 94855325 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017650.2 +1 validated p.P648H 1.000 93 0% 32 34.4% 6 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PON3 5446 genome.wustl.edu 37 7 94993366 94993366 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000940.2 -1 reviewed p.D168 1.000 128 0% 44 11.4% 0 - - - - HMMPfam_Arylesterase,superfamily_Calcium-dependent phosphotriesterase PON3 5446 genome.wustl.edu 37 7 95001575 95001575 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000940.2 -1 reviewed p.Q93* 0.182 463 0% 191 11.5% 0 - - - - superfamily_Calcium-dependent phosphotriesterase PON2 5445 genome.wustl.edu 37 7 95035514 95035514 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000305.2 -1 reviewed p.S275P 1.000 127 0% 52 38.5% 49 46.9% benign(0.22) tolerated(0.18) neutral(0.077) superfamily_SSF63829 PDK4 5166 genome.wustl.edu 37 7 95215030 95215030 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002612.3 -1 reviewed p.Q387K 0.984 173 0% 107 39.3% 12 41.6% benign(0) tolerated(1) - NULL PDK4 5166 genome.wustl.edu 37 7 95222119 95222119 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002612.3 -1 reviewed p.R161Q 1.000 330 0% 168 40.5% 9 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain ASNS 440 genome.wustl.edu 37 7 97482666 97482666 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001673.4 -1 reviewed p.R424Q 0.998 263 0% 120 39.2% 48 14.5% benign(0.015) tolerated(0.61) neutral(0.005) HMMPfam_Asn_synthase,superfamily_SSF52402 ASNS 440 genome.wustl.edu 37 7 97483911 97483911 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001673.4 -1 reviewed p.R407* 1.000 159 0% 97 41.2% 34 11.7% - - - HMMPfam_Asn_synthase,superfamily_SSF52402 ASNS 440 genome.wustl.edu 37 7 97488686 97488686 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001673.4 -1 reviewed p.A171V 0.000 134 0% 64 12.5% 32 28.1% benign(0) tolerated(0.56) neutral(0.006) superfamily_SSF56235 ENSG00000221048 0 genome.wustl.edu 37 7 97535334 97535334 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000408121 +1 novel NULL 0.203 86 0% 44 45.5% 1 0% - - - - LMTK2 22853 genome.wustl.edu 37 7 97822252 97822252 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014916.3 +1 reviewed p.T825 0.000 51 0% 39 28.2% 5 40% - - - NULL LMTK2 22853 genome.wustl.edu 37 7 97822547 97822547 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014916.3 +1 reviewed p.E924* 0.000 38 0% 24 29.2% 3 0% - - - NULL TECPR1 25851 genome.wustl.edu 37 7 97861254 97861254 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015395.1 -1 provisional p.T612 0.001 13 0% 19 68.4% 6 66.6% - - - superfamily_PH domain-like TRRAP 8295 genome.wustl.edu 37 7 98527692 98527692 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003496.2 +1 validated p.G1086* 1.000 98 1% 75 49.3% 4 0% - - - superfamily_ARM repeat TRRAP 8295 genome.wustl.edu 37 7 98564724 98564724 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003496.2 +1 validated p.R2388C 1.000 289 0% 144 44.4% 13 23% possibly_damaging(0.715) deleterious(0.05) deleterious(0.605) superfamily_ARM repeat KPNA7 402569 genome.wustl.edu 37 7 98792738 98792738 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145715.1 -1 validated p.V170M 0.000 38 0% 24 16.7% 0 - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Arm,HMMSmart_ARM,superfamily_ARM-type_fold PTCD1 26024 genome.wustl.edu 37 7 99030946 99030946 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015545.2 -1 validated p.C183 0.394 48 2.1% 55 49.1% 9 55.5% - - - HMMPfam_PPR ZNF394 84124 genome.wustl.edu 37 7 99091608 99091608 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000394177 -1 known e1+2 0.012 149 0% 115 11.3% 5 20% - - - - ZNF394 84124 genome.wustl.edu 37 7 99091789 99091789 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032164.2 -1 provisional p.R350M 0.000 113 0% 85 38.8% 15 26.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_C2H2 and C2HC zinc fingers ZNF655 79027 genome.wustl.edu 37 7 99171098 99171098 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083956.1 +1 reviewed p.E491A 0.009 74 0% 29 55.2% 2 0% benign(0.139) deleterious(0.01) neutral(0.418) superfamily_SSF57667 CYP3A7 1551 genome.wustl.edu 37 7 99312299 99312299 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000765.3 -1 reviewed p.F226C 0.999 260 0% 84 45.2% 0 - benign(0.218) deleterious(0.05) neutral(0.367) HMMPfam_p450,superfamily_Cytochrome_P450 CYP3A4 1576 genome.wustl.edu 37 7 99365990 99365990 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017460.3 -1 reviewed p.F219L 0.000 349 0% 93 38.7% 0 - unknown(0) tolerated(1) - HMMPfam_p450,superfamily_Cytochrome P450 CYP3A43 64816 genome.wustl.edu 37 7 99453296 99453296 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022820.3 +1 reviewed p.N251K 0.000 512 0% 154 51.3% 0 - benign(0) tolerated(1) - HMMPfam_p450,superfamily_Cytochrome P450 OR2AE1 81392 genome.wustl.edu 37 7 99473921 99473921 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005276.1 -1 provisional p.V246M 0.052 36 0% 35 54.3% 0 - possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_7tm_1,superfamily_SSF81321 COPS6 10980 genome.wustl.edu 37 7 99689132 99689132 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006833.4 +1 reviewed p.D278Y 1.000 86 0% 80 41.2% 259 40.1% possibly_damaging(0.789) deleterious(0) deleterious(0.740) NULL MCM7 4176 genome.wustl.edu 37 7 99695333 99695333 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005916.3 -1 reviewed p.A341T 1.000 228 0% 195 47.7% 98 46.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases MCM7 4176 genome.wustl.edu 37 7 99697372 99697372 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005916.3 -1 reviewed p.R39Q 0.000 54 0% 49 18.4% 93 22.5% benign(0.003) tolerated(0.5) neutral(0.010) superfamily_Nucleic acid-binding proteins GPC2 221914 genome.wustl.edu 37 7 99773398 99773398 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152742.1 -1 provisional p.R149* 1.000 43 0% 35 40% 3 0% - - - HMMPfam_Glypican GPC2 221914 genome.wustl.edu 37 7 99773977 99773977 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152742.1 -1 provisional p.R60W 1.000 30 0% 38 50% 8 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glypican STAG3 10734 genome.wustl.edu 37 7 99799597 99799597 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012447.2 +1 validated p.R776I 0.018 142 0% 104 43.3% 3 0% possibly_damaging(0.78) tolerated(0.12) deleterious(0.552) superfamily_ARM repeat SPDYE3 441272 genome.wustl.edu 37 7 99909548 99909548 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000332397 +1 known p.S240 0.022 80 1.3% 63 28.6% 0 - - - - NULL PILRB 29990 genome.wustl.edu 37 7 99957010 99957010 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013440.3 +1 reviewed p.G169S 0.001 63 0% 57 17.5% 119 11.7% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL TSC22D4 81628 genome.wustl.edu 37 7 100071967 100071967 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030935.3 -1 provisional p.A287T 0.952 38 0% 39 53.8% 62 43.5% benign(0.061) deleterious(0.01) neutral(0.410) NULL FBXO24 26261 genome.wustl.edu 37 7 100192772 100192772 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033506.2 +1 reviewed p.D334N 1.000 41 0% 40 40% 2 50% benign(0.304) tolerated(0.58) neutral(0.100) superfamily_RCC1/BLIP-II TFR2 7036 genome.wustl.edu 37 7 100225387 100225387 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003227.3 -1 reviewed p.N554 0.003 33 0% 34 58.8% 3 66.6% - - - HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases GIGYF1 64599 genome.wustl.edu 37 7 100279843 100279843 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022574.4 -1 validated p.A926V 1.000 15 0% 28 42.9% 36 36.1% unknown(0) deleterious(0.04) - NULL ZAN 7455 genome.wustl.edu 37 7 100333378 100333378 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003386.1 +1 reviewed p.R30H 0.000 66 0% 63 87.3% 0 - benign(0.293) - - NULL ZAN 7455 genome.wustl.edu 37 7 100363048 100363048 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003386.1 +1 reviewed p.F1447L 0.013 23 0% 21 33.3% 0 - possibly_damaging(0.9) tolerated(0.65) neutral(0.359) superfamily_Serine proterase inhibitors,HMMPfam_TIL SLC12A9 56996 genome.wustl.edu 37 7 100456740 100456740 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020246.2 +1 validated p.V312I 0.999 76 0% 63 33.3% 40 52.5% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_AA_permease SLC12A9 56996 genome.wustl.edu 37 7 100459116 100459116 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020246.2 +1 validated p.L482 1.000 11 0% 18 50% 36 33.3% - - - HMMPfam_AA_permease SRRT 51593 genome.wustl.edu 37 7 100484493 100484493 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015908.5 +1 validated p.E575D 1.000 26 0% 36 44.4% 72 27.7% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL MUC12 10071 genome.wustl.edu 37 7 100635033 100635033 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000379442 +1 known p.K540E 0.829 387 0% 346 22.5% 0 - unknown(0) - - NULL MUC12 10071 genome.wustl.edu 37 7 100635134 100635134 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000379442 +1 known p.I573 0.090 323 0% 311 24.1% 0 - - - - NULL MUC12 10071 genome.wustl.edu 37 7 100638655 100638655 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000379442 +1 known p.S1747Y 0.000 341 0% 318 11% 0 - unknown(0) - - NULL MUC12 10071 genome.wustl.edu 37 7 100642682 100642682 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000379442 +1 known p.G3089 0.001 767 0.3% 712 10.1% 0 - - - - NULL MUC12 10071 genome.wustl.edu 37 7 100642821 100642821 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000379442 +1 known p.E3136* 0.001 434 0% 383 7.6% 0 - - - - NULL MUC12 10071 genome.wustl.edu 37 7 100646890 100646890 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000379442 +1 known p.F4492C 0.000 360 0% 344 12.5% 0 - possibly_damaging(0.448) - - NULL MUC12 10071 genome.wustl.edu 37 7 100647301 100647301 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000379442 +1 known p.R4629H 0.000 576 0% 408 9.3% 0 - benign(0.247) - - NULL MUC17 140453 genome.wustl.edu 37 7 100675397 100675397 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040105.1 +1 provisional p.I234V 0.000 68 0% 58 43.1% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100677318 100677318 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040105.1 +1 provisional p.T874I 0.664 157 0% 78 47.4% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100686501 100686501 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040105.1 +1 provisional p.P3935L 0.035 133 0% 84 50% 0 - probably_damaging(0.982) - - NULL MUC17 140453 genome.wustl.edu 37 7 100694912 100694912 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040105.1 +1 provisional p.T4298I 0.000 159 0% 119 39.5% 0 - unknown(0) - - superfamily_SEA domain TRIM56 81844 genome.wustl.edu 37 7 100732045 100732045 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030961.1 +1 provisional p.G484 0.855 13 0% 17 47.1% 5 0% - - - NULL SERPINE1 5054 genome.wustl.edu 37 7 100771751 100771751 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000602.3 +1 reviewed p.H26R 0.000 43 0% 33 39.4% 1 0% benign(0.011) tolerated(0.53) neutral(0.008) HMMPfam_Serpin,superfamily_Prot_inh_serpin PLOD3 8985 genome.wustl.edu 37 7 100849709 100849709 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000454310 -1 known p.A216V 0.997 9 0.000 19 0.789 145 52.4% - - - HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 PLOD3 8985 genome.wustl.edu 37 7 100853627 100853627 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000454310 -1 known p.S108Y 1.000 13 0% 22 27.3% 89 48.3% - - - HMMSmart_SM00702 CUX1 1523 genome.wustl.edu 37 7 101758501 101758501 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181552.2 +1 reviewed p.R208* 1.000 227 0% 111 86.5% 3 33.3% - - - NULL CUX1 1523 genome.wustl.edu 37 7 101813741 101813741 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181552.2 +1 reviewed p.Q247* 0.999 62 0% 50 60% 5 40% - - - NULL CUX1 1523 genome.wustl.edu 37 7 101845340 101845340 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181552.2 +1 reviewed p.K921 1.000 34 0% 28 35.7% 6 50% - - - NULL CUX1 1523 genome.wustl.edu 37 7 101870843 101870843 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181552.2 +1 reviewed p.S1109 0.000 44 0% 22 50% 3 33.3% - - - NULL FAM185A 222234 genome.wustl.edu 37 7 102412857 102412857 + Silent SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145268.1 +1 validated p.G265 0.605 878 0% 258 20.2% 4 25% - - - NULL FAM185A 222234 genome.wustl.edu 37 7 102449081 102449081 + RNA SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_026879.1 +1 validated NULL 0.000 7 0.000 4 1.000 2 50% - - - - LRRC17 10234 genome.wustl.edu 37 7 102584868 102584868 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031692.2 +1 validated p.T380 0.034 175 0% 71 52.1% 98 37.7% - - - HMMSmart_SM00082,superfamily_RNI-like SLC26A5 375611 genome.wustl.edu 37 7 103033456 103033456 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198999.2 -1 reviewed p.A343 1.000 189 0% 124 21% 0 - - - - HMMPfam_Sulfate_transp SLC26A5 375611 genome.wustl.edu 37 7 103050862 103050862 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198999.2 -1 reviewed p.K235N 1.000 55 0% 31 41.9% 0 - benign(0.218) tolerated(0.23) neutral(0.063) HMMPfam_Sulfate_transp RELN 5649 genome.wustl.edu 37 7 103179559 103179559 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005045.3 -1 reviewed p.F2382L 0.741 49 0% 40 30% 0 - possibly_damaging(0.864) tolerated(1) neutral(0.335) NULL RELN 5649 genome.wustl.edu 37 7 103180717 103180717 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005045.3 -1 reviewed p.S2286Y 0.979 34 0% 27 51.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ORC5 5001 genome.wustl.edu 37 7 103844681 103844681 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002553.2 -1 reviewed p.R25K 1.000 283 0% 127 43.3% 15 26.6% benign(0.002) tolerated(0.93) - NULL MLL5 55904 genome.wustl.edu 37 7 104717761 104717761 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018682.3 +1 reviewed p.Q337H 1.000 95 0% 48 50% 17 41.1% possibly_damaging(0.543) deleterious(0.04) deleterious(0.533) HMMPfam_SET,HMMSmart_SM00317 MLL5 55904 genome.wustl.edu 37 7 104747076 104747076 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018682.3 +1 reviewed p.D902N 0.949 215 0% 98 41.8% 19 21% unknown(0) tolerated(0.07) - NULL SRPK2 6733 genome.wustl.edu 37 7 104844090 104844090 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182692.1 -1 validated p.A72T 0.997 96 0% 61 49.2% 14 50% benign(0.004) tolerated(0.39) neutral(0.016) NULL PUS7 54517 genome.wustl.edu 37 7 105111236 105111236 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019042.3 -1 validated p.A433T 1.000 259 0% 184 51.1% 13 53.8% benign(0.088) tolerated(0.09) neutral(0.303) HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom RINT1 60561 genome.wustl.edu 37 7 105195515 105195515 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021930.4 +1 validated p.Q504 1.000 289 0% 123 33.3% 6 50% - - - HMMPfam_RINT1_TIP1 ATXN7L1 222255 genome.wustl.edu 37 7 105254226 105254226 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000388807 -1 known p.P738L 0.000 30 0% 42 52.4% 3 66.6% benign(0) tolerated(0.19) neutral(0.050) NULL PIK3CG 5294 genome.wustl.edu 37 7 106509138 106509138 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002649.2 +1 reviewed p.D378N 1.000 28 3.6% 20 60% 0 - benign(0.086) deleterious(0.04) neutral(0.355) HMMPfam_PI3K_C2,HMMSmart_SM00142,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PIK3CG 5294 genome.wustl.edu 37 7 106515198 106515198 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002649.2 +1 reviewed p.E781K 0.013 254 0% 144 41% 0 - benign(0) tolerated(0.57) neutral(0.006) superfamily_Protein kinase-like (PK-like) SLC26A4 5172 genome.wustl.edu 37 7 107303812 107303812 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000441.1 +1 reviewed p.R79Q 0.992 239 0.4% 144 47.2% 0 - probably_damaging(0.961) tolerated(0.16) neutral(0.464) NULL SLC26A4 5172 genome.wustl.edu 37 7 107315421 107315421 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000441.1 +1 reviewed p.I211T 0.999 424 0% 240 38.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sulfate_transp CBLL1 79872 genome.wustl.edu 37 7 107389424 107389424 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024814.2 +1 validated p.A38V 0.974 164 0% 86 47.7% 7 42.8% benign(0) tolerated(0.33) neutral(0.024) NULL SLC26A3 1811 genome.wustl.edu 37 7 107416902 107416902 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000111.2 -1 reviewed p.D558N 0.981 336 0% 123 40.7% 2 50% benign(0.003) tolerated(0.32) neutral(0.024) HMMPfam_STAS,superfamily_STAS DLD 1738 genome.wustl.edu 37 7 107545828 107545828 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000108.3 +1 reviewed p.G154E 1.000 213 0% 88 37.5% 39 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pyr_redox_2,superfamily_SSF51905 NRCAM 4897 genome.wustl.edu 37 7 107822360 107822360 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037132.1 -1 reviewed p.N851S 0.996 51 0% 37 37.8% 15 20% benign(0.005) deleterious(0.02) neutral(0.383) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NRCAM 4897 genome.wustl.edu 37 7 107832180 107832180 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037132.1 -1 reviewed p.S632 0.598 93 0% 49 40.8% 13 38.4% - - - HMMSmart_SM00409,superfamily_Immunoglobulin NRCAM 4897 genome.wustl.edu 37 7 107878197 107878197 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037132.1 -1 reviewed p.D41 1.000 369 0% 86 34.9% 0 - - - - NULL PNPLA8 50640 genome.wustl.edu 37 7 108155632 108155632 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015723.2 -1 provisional p.S102P 1.000 206 0% 128 44.5% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL THAP5 168451 genome.wustl.edu 37 7 108204999 108204999 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130475.1 -1 validated p.F275C 1.000 336 0% 158 53.2% 5 40% benign(0.267) deleterious(0.02) neutral(0.411) NULL LRRN3 54674 genome.wustl.edu 37 7 110764619 110764619 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099658.1 +1 validated p.T597 0.932 94 0% 27 59.3% 0 - - - - HMMPfam_fn3 DOCK4 9732 genome.wustl.edu 37 7 111368576 111368576 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000445943 -1 known p.R1918Q 0.000 11 0% 13 46.2% 4 75% - - - NULL DOCK4 9732 genome.wustl.edu 37 7 111382116 111382116 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014705.3 -1 reviewed p.K1575Q 1.000 161 0% 93 40.9% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DOCK4 9732 genome.wustl.edu 37 7 111462448 111462448 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014705.3 -1 reviewed p.D967G 1.000 225 0% 101 33.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOCK4 9732 genome.wustl.edu 37 7 111535677 111535677 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000445943 -1 known p.S514L 0.538 150 0% 66 31.8% 1 100% - - - NULL IFRD1 3475 genome.wustl.edu 37 7 112102141 112102141 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007245.1 +1 validated p.T235I 1.000 298 0% 86 41.9% 14 50% possibly_damaging(0.545) deleterious(0.02) deleterious(0.568) HMMPfam_IFRD,superfamily_ARM repeat TMEM168 64418 genome.wustl.edu 37 7 112407575 112407575 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022484.4 -1 validated p.D591Y 1.000 219 0% 55 34.5% 22 59% possibly_damaging(0.92) deleterious(0.02) deleterious(0.754) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113517856 113517856 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002711.3 -1 reviewed p.G1097 0.995 256 0% 45 46.7% 0 - - - - NULL FOXP2 93986 genome.wustl.edu 37 7 114066652 114066652 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148898.2 +1 reviewed p.A29V 1.000 66 0% 13 46.2% 3 66.6% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL CAV1 857 genome.wustl.edu 37 7 116199240 116199240 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001753.4 +1 reviewed p.R146C 1.000 104 0% 49 53.1% 11 18.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Caveolin ST7 7982 genome.wustl.edu 37 7 116759714 116759714 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021908.2 +1 reviewed p.S112P 1.000 154 0% 76 46.1% 14 42.8% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_ST7 ASZ1 136991 genome.wustl.edu 37 7 117023111 117023111 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130768.2 -1 validated p.Q247H 0.600 404 0% 73 39.7% 0 - benign(0) tolerated(0.22) neutral(0.042) NULL CFTR 1080 genome.wustl.edu 37 7 117243838 117243838 + Splice_Site SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000492.3 +1 reviewed e17+2 1.000 112 0% 61 44.3% 0 - - - - - KCND2 3751 genome.wustl.edu 37 7 119914757 119914757 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012281.2 +1 reviewed p.S24L 1.000 22 0% 17 52.9% 2 0% benign(0.004) tolerated(0.07) neutral(0.319) NULL KCND2 3751 genome.wustl.edu 37 7 119915022 119915022 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012281.2 +1 reviewed p.I112 1.000 35 0% 18 55.6% 5 20% - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain TSPAN12 23554 genome.wustl.edu 37 7 120428704 120428704 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012338.3 -1 reviewed p.F287C 1.000 160 0% 48 37.5% 7 28.5% possibly_damaging(0.784) tolerated(0.06) deleterious(0.616) NULL C7orf58 79974 genome.wustl.edu 37 7 120782099 120782099 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024913.4 +1 validated p.H653 0.000 132 0% 58 48.3% 0 - - - - NULL WNT16 51384 genome.wustl.edu 37 7 120979236 120979236 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_057168.1 +1 reviewed p.R312H 1.000 114 0% 51 43.1% 0 - possibly_damaging(0.949) deleterious(0.03) deleterious(0.758) HMMPfam_wnt,HMMSmart_SM00097 PTPRZ1 5803 genome.wustl.edu 37 7 121637966 121637966 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002851.2 +1 reviewed p.M382I 1.000 182 0% 81 44.4% 0 - benign(0.001) tolerated(0.62) neutral(0.004) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRZ1 5803 genome.wustl.edu 37 7 121671535 121671535 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002851.2 +1 reviewed p.V1696 1.000 338 0.6% 104 46.2% 0 - - - - superfamily_(Phosphotyrosine protein) phosphatases II AASS 10157 genome.wustl.edu 37 7 121773658 121773658 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005763.3 -1 reviewed p.P41 0.017 79 0% 49 16.3% 2 0% - - - HMMPfam_AlaDh_PNT_N,superfamily_Formate/glycerate dehydrogenase catalytic domain-like FEZF1 389549 genome.wustl.edu 37 7 121943913 121943913 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000427185 -1 known e2-1 1.000 30 0% 31 51.6% 0 - - - - - RNF133 168433 genome.wustl.edu 37 7 122338702 122338702 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139175.1 -1 reviewed p.I91V 0.048 201 0% 85 48.2% 0 - benign(0) tolerated(0.39) neutral(0.016) HMMPfam_PA,superfamily_SSF52025 SLC13A1 6561 genome.wustl.edu 37 7 122757629 122757629 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022444.3 -1 validated p.L516M 0.938 251 0% 84 29.8% 0 - probably_damaging(0.988) tolerated(1) neutral(0.438) HMMPfam_Na_sulph_symp SLC13A1 6561 genome.wustl.edu 37 7 122774538 122774538 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022444.3 -1 validated p.T286 0.000 186 0% 51 33.3% 0 - - - - HMMPfam_Na_sulph_symp IQUB 154865 genome.wustl.edu 37 7 123092980 123092980 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178827.4 -1 validated e12-1 1.000 164 0.6% 99 46.5% 0 - - - - - IQUB 154865 genome.wustl.edu 37 7 123101556 123101556 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178827.4 -1 validated p.R621H 0.000 229 0.4% 78 51.3% 1 0% benign(0.02) tolerated(0.21) neutral(0.045) NULL IQUB 154865 genome.wustl.edu 37 7 123105061 123105061 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178827.4 -1 validated p.E528 1.000 221 0% 65 50.8% 0 - - - - NULL IQUB 154865 genome.wustl.edu 37 7 123143170 123143170 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178827.4 -1 validated p.G232V 0.835 225 0% 111 38.7% 0 - possibly_damaging(0.574) tolerated(0.06) deleterious(0.520) NULL NDUFA5 4698 genome.wustl.edu 37 7 123197368 123197368 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000340034 -1 known p.Q52H 0.000 67 0% 25 52% 0 - unknown(0) - - NULL ASB15 142685 genome.wustl.edu 37 7 123276983 123276983 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080928.3 +1 validated p.Y572C 0.993 98 0% 51 52.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_SOCS_box,HMMSmart_SM00253 LMOD2 442721 genome.wustl.edu 37 7 123303136 123303136 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207163.1 +1 validated p.S499Y 1.000 303 0.3% 92 41.3% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL GPR37 2861 genome.wustl.edu 37 7 124387177 124387177 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005302.2 -1 provisional p.P415L 0.736 119 0% 38 10.5% 2 0% benign(0.007) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR37 2861 genome.wustl.edu 37 7 124404500 124404500 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005302.2 -1 provisional p.S177 0.005 10 0% 12 41.7% 1 0% - - - NULL GRM8 2918 genome.wustl.edu 37 7 126746620 126746620 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000845.2 -1 reviewed p.S219 0.034 151 0% 66 40.9% 2 50% - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ZNF800 168850 genome.wustl.edu 37 7 127014947 127014947 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000265827 -1 known p.S148L 1.000 345 0% 124 39.5% 10 20% possibly_damaging(0.907) deleterious(0.03) deleterious(0.725) NULL ARF5 381 genome.wustl.edu 37 7 127231273 127231273 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001662.2 +1 reviewed p.V155I 0.997 37 0% 32 43.8% 622 47.5% benign(0) tolerated(1) - HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,PatternScan_ARF,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases SND1 27044 genome.wustl.edu 37 7 127326666 127326666 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014390.2 +1 validated e2-1 1.000 43 0% 22 36.4% 0 - - - - - SND1 27044 genome.wustl.edu 37 7 127326728 127326728 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014390.2 +1 validated p.R47Q 1.000 36 0% 19 31.6% 65 1.5% possibly_damaging(0.925) tolerated(0.13) deleterious(0.626) HMMSmart_SNc,superfamily_Staphylococal_nuclease_OB-fold SND1 27044 genome.wustl.edu 37 7 127729593 127729593 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014390.2 +1 validated p.T824I 1.000 47 0% 68 42.6% 186 84.9% benign(0.07) tolerated(0.13) neutral(0.258) superfamily_Staphylococal_nuclease_OB-fold CALU 813 genome.wustl.edu 37 7 128388680 128388680 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130674.1 +1 reviewed p.A15S 1.000 126 0% 85 27.1% 61 45.9% possibly_damaging(0.61) tolerated(0.23) neutral(0.253) NULL OPN1SW 611 genome.wustl.edu 37 7 128415539 128415539 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001708.2 -1 reviewed p.F102 0.983 62 0% 39 56.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FLNC 2318 genome.wustl.edu 37 7 128485077 128485077 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001458.4 +1 reviewed p.A1186 0.000 7 0.000 11 0.545 1 0% - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128485259 128485259 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001458.4 +1 reviewed p.A1247V 0.800 9 0.000 17 0.412 3 33.3% benign(0.425) deleterious(0.05) deleterious(0.483) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128490933 128490933 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001458.4 +1 reviewed p.R1825 0.988 11 0% 18 55.6% 1 100% - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128494650 128494650 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001458.4 +1 reviewed p.F2304S 1.000 7 0.000 16 0.438 4 25% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00557,superfamily_E set domains FLNC 2318 genome.wustl.edu 37 7 128496828 128496828 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001458.4 +1 reviewed p.E2472K 1.000 52 0% 48 39.6% 1 0% probably_damaging(1) tolerated(0.25) deleterious(0.537) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin SMO 6608 genome.wustl.edu 37 7 128848687 128848687 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005631.3 +1 provisional p.R451H 1.000 20 0% 27 33.3% 42 47.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Frizzled SMO 6608 genome.wustl.edu 37 7 128849218 128849218 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005631.3 +1 provisional p.R482 0.999 99 0% 114 44.7% 30 36.6% - - - HMMPfam_Frizzled FAM40B 57464 genome.wustl.edu 37 7 129096369 129096369 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020704.2 +1 validated p.I308 1.000 37 0% 16 50% 3 66.6% - - - HMMPfam_N1221 ENSG00000245606 0 genome.wustl.edu 37 7 130008216 130008216 + RNA SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000501661 -1 known NULL 0.013 64 0% 63 47.6% 0 - - - - - CPA1 1357 genome.wustl.edu 37 7 130020967 130020967 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001868.2 +1 reviewed p.D32N 0.003 20 0% 20 45% 0 - benign(0) tolerated(0.88) - HMMPfam_Propep_M14,superfamily_Prot_inh_propept CEP41 95681 genome.wustl.edu 37 7 130040068 130040068 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018718.1 -1 provisional p.P262L 1.000 110 0% 70 52.9% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase CEP41 95681 genome.wustl.edu 37 7 130044442 130044442 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018718.1 -1 provisional p.A129T 0.000 71 0% 64 32.8% 7 28.5% benign(0) tolerated(0.69) neutral(0.002) superfamily_Rhodanese/Cell cycle control phosphatase CEP41 95681 genome.wustl.edu 37 7 130044508 130044508 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018718.1 -1 provisional p.A107S 0.934 81 0% 48 31.2% 12 58.3% benign(0.013) tolerated(0.71) neutral(0.002) superfamily_Rhodanese/Cell cycle control phosphatase MEST 4232 genome.wustl.edu 37 7 130144785 130144785 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002402.2 +1 reviewed p.T299M 1.000 84 0% 33 48.5% 64 54.6% benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases COPG2 26958 genome.wustl.edu 37 7 130351766 130351766 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000445977 -1 known p.R32C 1.000 412 0% 187 39% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat LOC647030 647030 genome.wustl.edu 37 7 131347242 131347242 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_017470.3 -1 model NULL 0.991 118 0% 84 40.5% 4 0% - - - - PLXNA4 91584 genome.wustl.edu 37 7 131844258 131844258 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020911.1 -1 validated p.R1545Q 1.000 87 0% 61 54.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA4 91584 genome.wustl.edu 37 7 131883312 131883312 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020911.1 -1 validated p.I890 0.858 32 0% 28 42.9% 0 - - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PLXNA4 91584 genome.wustl.edu 37 7 131888127 131888127 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020911.1 -1 validated p.V784M 1.000 67 0% 60 36.7% 0 - benign(0.004) deleterious(0) neutral(0.445) NULL LRGUK 136332 genome.wustl.edu 37 7 133943049 133943049 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144648.1 +1 provisional p.R747W 0.001 277 0% 112 44.6% 1 0% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL AKR1B15 441282 genome.wustl.edu 37 7 134261764 134261764 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080538.2 +1 validated p.S264Y 0.998 191 0% 73 47.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase CALD1 800 genome.wustl.edu 37 7 134613548 134613548 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033138.3 +1 reviewed p.R39W 1.000 30 0% 17 35.3% 25 52% possibly_damaging(0.893) - - HMMPfam_Caldesmon CALD1 800 genome.wustl.edu 37 7 134642829 134642829 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033138.3 +1 reviewed p.R649* 1.000 543 0% 224 46.4% 33 0% - - - HMMPfam_Caldesmon C7orf49 78996 genome.wustl.edu 37 7 134853506 134853506 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000430372 -1 known p.E42G 0.000 25 0% 33 60.6% 24 45.8% benign(0.01) tolerated(0.19) neutral(0.050) NULL WDR91 29062 genome.wustl.edu 37 7 134889139 134889139 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014149.3 -1 validated p.R258C 0.010 40 0% 16 37.5% 21 28.5% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL CNOT4 4850 genome.wustl.edu 37 7 135078849 135078849 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013316.2 -1 validated p.R480Q 1.000 95 1.1% 65 13.8% 9 22.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NUP205 23165 genome.wustl.edu 37 7 135258456 135258456 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015135.2 +1 validated p.A76T 0.995 216 0% 86 16.3% 19 31.5% benign(0.005) tolerated(0.78) neutral(0.001) NULL NUP205 23165 genome.wustl.edu 37 7 135302415 135302415 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015135.2 +1 validated p.R1252S 0.999 172 0% 91 44% 23 56.5% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL CHRM2 1129 genome.wustl.edu 37 7 136699972 136699972 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000739.2 +1 reviewed p.D120 1.000 114 0% 33 42.4% 1 0% - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like CHRM2 1129 genome.wustl.edu 37 7 136700118 136700118 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000739.2 +1 reviewed p.R169I 1.000 39 0% 11 72.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DGKI 9162 genome.wustl.edu 37 7 137092735 137092735 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004717.2 -1 reviewed p.E944* 1.000 230 0% 97 42.3% 0 - - - - superfamily_ANK AKR1D1 6718 genome.wustl.edu 37 7 137790098 137790098 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005989.2 +1 validated p.V168M 0.879 52 0% 59 37.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red,PatternScan_ALDOKETO_REDUCTASE_2 SVOPL 136306 genome.wustl.edu 37 7 138281250 138281250 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001139456.1 -1 validated p.G460E 0.998 87 0% 41 48.8% 1 100% possibly_damaging(0.935) tolerated(0.34) neutral(0.404) superfamily_MFS general substrate transporter ATP6V0A4 50617 genome.wustl.edu 37 7 138432226 138432226 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020632.2 -1 reviewed p.A422T 1.000 72 0% 65 49.2% 11 36.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_V_ATPase_I ATP6V0A4 50617 genome.wustl.edu 37 7 138444564 138444564 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020632.2 -1 reviewed p.R191Q 1.000 59 0% 32 50% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V_ATPase_I KIAA1549 57670 genome.wustl.edu 37 7 138566273 138566273 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020910.2 -1 validated p.N1314H 1.000 108 0% 79 57% 7 71.4% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL KIAA1549 57670 genome.wustl.edu 37 7 138583712 138583712 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020910.2 -1 validated p.V1229A 0.000 81 0% 59 18.6% 15 40% benign(0.001) tolerated(0.44) neutral(0.013) NULL KIAA1549 57670 genome.wustl.edu 37 7 138588359 138588359 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020910.2 -1 validated p.V1165A 0.003 33 0% 33 27.3% 12 25% benign(0.056) tolerated(0.11) neutral(0.275) NULL UBN2 254048 genome.wustl.edu 37 7 138978036 138978036 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173569.3 +1 validated p.P1160H 1.000 144 0% 61 36.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HIPK2 28996 genome.wustl.edu 37 7 139281600 139281600 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022740.4 -1 validated p.A511V 0.166 27 0% 23 39.1% 13 38.4% - - - NULL HIPK2 28996 genome.wustl.edu 37 7 139416730 139416730 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000263551 -1 known p.P35L 1.000 103 0% 83 47% 11 54.5% benign(0.011) tolerated(0.11) neutral(0.272) NULL TBXAS1 6916 genome.wustl.edu 37 7 139653193 139653193 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001061.4 +1 reviewed p.C160 0.078 99 0% 59 61% 1 0% - - - HMMPfam_p450,superfamily_Cytochrome P450 TBXAS1 6916 genome.wustl.edu 37 7 139655298 139655298 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001061.4 +1 reviewed p.A195T 1.000 21 0% 19 78.9% 2 0% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_p450,superfamily_Cytochrome P450 JHDM1D 80853 genome.wustl.edu 37 7 139801801 139801801 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030647.1 -1 validated p.L530I 1.000 279 0% 144 16.7% 10 10% benign(0.084) tolerated(0.39) neutral(0.022) NULL SLC37A3 84255 genome.wustl.edu 37 7 140045748 140045748 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000485734 -1 known p.S128F 1.000 55 0% 42 33.3% 11 45.4% - - - superfamily_MFS general substrate transporter MKRN1 23608 genome.wustl.edu 37 7 140155652 140155652 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013446.3 -1 validated p.E345D 1.000 162 0% 91 27.5% 60 36.6% probably_damaging(0.964) tolerated(0.43) neutral(0.420) superfamily_RING/U-box DENND2A 27147 genome.wustl.edu 37 7 140301677 140301677 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015689.3 -1 validated p.S174L 0.042 31 0% 18 44.4% 5 0% benign(0.273) deleterious(0) deleterious(0.474) NULL AGK 55750 genome.wustl.edu 37 7 141341172 141341172 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018238.3 +1 validated p.A284V 0.020 51 0% 27 63% 10 70% benign(0.008) tolerated(0.46) neutral(0.012) NULL KIAA1147 57189 genome.wustl.edu 37 7 141362499 141362499 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080392.1 -1 provisional p.G442V 1.000 28 0% 28 39.3% 16 43.7% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_DUF2347 SSBP1 6742 genome.wustl.edu 37 7 141443407 141443407 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003143.1 +1 validated p.V44 1.000 207 0% 140 47.9% 253 42.2% - - - HMMPfam_SSB,superfamily_Nucleic acid-binding proteins SSBP1 6742 genome.wustl.edu 37 7 141443746 141443746 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003143.1 +1 validated p.R91W 1.000 157 0.6% 82 39% 320 48.7% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_SSB,superfamily_Nucleic acid-binding proteins MGAM 8972 genome.wustl.edu 37 7 141747587 141747587 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004668.2 +1 reviewed p.R834Q 0.997 206 0% 73 42.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MGAM 8972 genome.wustl.edu 37 7 141770895 141770895 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000475668 +1 known p.E1721D 0.958 38 0% 23 30.4% 0 - possibly_damaging(0.649) tolerated(0.23) neutral(0.270) NULL MGAM 8972 genome.wustl.edu 37 7 141791805 141791805 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000475668 +1 known p.P2302 0.000 398 0% 189 41.8% 1 0% - - - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases MGAM 8972 genome.wustl.edu 37 7 141805626 141805626 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004668.2 +1 reviewed p.D1837N 0.000 236 0.4% 108 45.4% 0 - benign(0.034) tolerated(0.62) neutral(0.006) NULL TRBV4-1 28617 genome.wustl.edu 37 7 142013470 142013470 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390357 +1 known p.L109I 0.259 61 0% 40 47.5% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) HMMPfam_V-set,superfamily_Immunoglobulin TRBV4-2 28616 genome.wustl.edu 37 7 142045588 142045588 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390392 +1 known p.S39Y 0.000 191 0% 126 27.8% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_V-set,superfamily_SSF48726 TRBV7-7 28591 genome.wustl.edu 37 7 142119857 142119857 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390377 -1 known p.R104W 0.000 48 0% 38 44.7% 0 - probably_damaging(0.953) deleterious(0.01) deleterious(0.802) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 TRBV10-1 28585 genome.wustl.edu 37 7 142231672 142231672 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390364 -1 known p.G82D 0.004 77 0% 45 13.3% 0 - possibly_damaging(0.895) deleterious(0.03) deleterious(0.718) HMMPfam_V-set,superfamily_SSF48726 TRBC2 28638 genome.wustl.edu 37 7 142498768 142498768 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000466254 +1 known p.S15N 0.959 28 0% 34 32.4% 54 0% - - - HMMPfam_C1-set,superfamily_Immunoglobulin EPHB6 2051 genome.wustl.edu 37 7 142567586 142567586 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004445.3 +1 reviewed p.L825R 1.000 57 0% 56 33.9% 16 25% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TRPV6 55503 genome.wustl.edu 37 7 142575684 142575684 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018646.2 -1 validated p.R75I 1.000 162 0% 144 43.1% 1 0% benign(0.381) deleterious(0.01) deleterious(0.527) superfamily_Ankyrin repeat TAS2R40 259286 genome.wustl.edu 37 7 142919343 142919343 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176882.1 +1 provisional p.R58C 0.000 116 0% 46 32.6% 0 - benign(0) tolerated(0.2) neutral(0.049) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like CASP2 835 genome.wustl.edu 37 7 142988672 142988672 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032982.2 +1 reviewed p.E38 1.000 152 0% 97 40.2% 26 53.8% - - - HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain CASP2 835 genome.wustl.edu 37 7 143002040 143002040 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032982.2 +1 reviewed p.A412V 0.280 45 0% 31 25.8% 46 17.3% benign(0.286) tolerated(0.27) neutral(0.121) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like ZYX 7791 genome.wustl.edu 37 7 143087029 143087029 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010972.1 +1 reviewed p.A525T 0.997 36 0% 32 43.8% 463 39.7% benign(0.01) deleterious(0) neutral(0.445) HMMPfam_LIM,HMMSmart_LIM,superfamily_SSF57716 EPHA1 2041 genome.wustl.edu 37 7 143095904 143095904 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005232.4 -1 reviewed p.T376A 0.000 15 0% 14 50% 14 35.7% benign(0) tolerated(0.82) neutral(0.001) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FAM115C 285966 genome.wustl.edu 37 7 143400311 143400311 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130025.1 +1 validated p.A75V 0.937 42 0% 45 22.2% 1 0% benign(0.001) tolerated(0.5) neutral(0.010) NULL FAM115C 285966 genome.wustl.edu 37 7 143417197 143417197 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130025.1 +1 validated p.E349K 1.000 16 0% 18 22.2% 0 - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL OR2F1 26211 genome.wustl.edu 37 7 143657410 143657410 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012369.2 +1 provisional p.A116V 0.842 146 0.7% 116 17.2% 0 - benign(0.002) tolerated(0.25) neutral(0.037) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR2A2 442361 genome.wustl.edu 37 7 143807225 143807225 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005480.2 +1 validated p.L184F 0.013 73 0% 37 32.4% 0 - benign(0.402) deleterious(0.03) deleterious(0.493) HMMPfam_7tm_1,superfamily_SSF81321 ARHGEF35 445328 genome.wustl.edu 37 7 143884218 143884218 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003702.2 -1 validated p.D420G 0.001 70 0% 50 22% 13 69.2% probably_damaging(0.998) tolerated(0.21) deleterious(0.518) NULL ARHGEF5 7984 genome.wustl.edu 37 7 144062220 144062220 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005435.3 +1 reviewed p.P820S 0.000 65 0% 78 19.2% 10 30% benign(0.022) tolerated(0.34) neutral(0.024) NULL NOBOX 135935 genome.wustl.edu 37 7 144096935 144096935 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080413.2 -1 provisional p.A357T 0.997 172 0% 141 46.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like CNTNAP2 26047 genome.wustl.edu 37 7 146829371 146829371 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014141.5 +1 reviewed p.T373M 0.995 180 0% 58 55.2% 1 100% probably_damaging(0.996) tolerated(0.22) deleterious(0.504) superfamily_Concanavalin A-like lectins/glucanases CNTNAP2 26047 genome.wustl.edu 37 7 147336343 147336343 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014141.5 +1 reviewed p.Y681* 1.000 60 0% 30 30% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases CNTNAP2 26047 genome.wustl.edu 37 7 148080965 148080965 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014141.5 +1 reviewed p.D1234Y 1.000 22 0% 11 54.5% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) NULL C7orf33 202865 genome.wustl.edu 37 7 148311252 148311252 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145304.2 +1 predicted p.R108I 0.030 83 0% 54 37% 0 - benign(0.201) - - NULL LOC643438 643438 genome.wustl.edu 37 7 148334295 148334295 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_015310.2 +1 model NULL 0.118 56 0% 41 56.1% 0 - - - - - EZH2 2146 genome.wustl.edu 37 7 148515008 148515008 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004456.3 -1 reviewed p.E401* 1.000 540 0% 237 42.2% 7 57.1% - - - NULL EZH2 2146 genome.wustl.edu 37 7 148523586 148523586 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004456.3 -1 reviewed p.C289 1.000 259 0% 101 44.6% 12 16.6% - - - NULL ZNF425 155054 genome.wustl.edu 37 7 148800771 148800771 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001661.2 -1 validated p.F731S 0.992 28 0% 29 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF425 155054 genome.wustl.edu 37 7 148801034 148801034 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001661.2 -1 validated p.C643 0.963 63 0% 46 37% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF398 57541 genome.wustl.edu 37 7 148873567 148873567 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170686.2 +1 reviewed p.G223 0.994 381 0% 228 37.3% 9 55.5% - - - NULL ZNF282 8427 genome.wustl.edu 37 7 148895724 148895724 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003575.2 +1 validated p.G155 0.998 28 0% 10 50% 18 44.4% - - - NULL ZNF282 8427 genome.wustl.edu 37 7 148895810 148895810 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003575.2 +1 validated p.R184Q 1.000 12 0% 13 53.8% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF746 155061 genome.wustl.edu 37 7 149189995 149189995 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152557.4 -1 validated p.R159C 0.904 72 0% 61 47.5% 16 37.5% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL SSPO 23145 genome.wustl.edu 37 7 149482639 149482639 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000378016 +1 known p.A1019T 0.998 10 0.000 9 0.556 0 - - - - HMMPfam_VWD,HMMSmart_SM00216,HMMSmart_SM00215 SSPO 23145 genome.wustl.edu 37 7 149483252 149483252 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000378016 +1 known p.R1107H 0.000 11 0% 17 23.5% 1 0% - - - HMMPfam_VWD,HMMSmart_SM00216 SSPO 23145 genome.wustl.edu 37 7 149500350 149500350 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000378016 +1 known p.L2626M 0.028 15 0% 13 30.8% 0 - - - - superfamily_Serine proterase inhibitors SSPO 23145 genome.wustl.edu 37 7 149503943 149503943 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000378016 +1 known p.A2923T 0.000 24 0% 19 36.8% 0 - - - - PatternScan_BPTI_KUNITZ_1,superfamily_Serine proterase inhibitors SSPO 23145 genome.wustl.edu 37 7 149514991 149514991 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000378016 +1 known p.S3794L 1.000 10 0.000 9 0.444 1 100% - - - superfamily_PMP inhibitors SSPO 23145 genome.wustl.edu 37 7 149516593 149516593 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000378016 +1 known p.R3999Q 0.900 7 0.000 4 1.000 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ZNF862 643641 genome.wustl.edu 37 7 149559177 149559177 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099220.1 +1 provisional p.F976 0.014 11 0% 13 46.2% 7 57.1% - - - NULL ACTR3C 653857 genome.wustl.edu 37 7 149992433 149992433 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000477871 -1 known p.E84* 1.000 616 0% 327 38.2% 6 50% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain GIMAP8 155038 genome.wustl.edu 37 7 150164371 150164371 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175571.2 +1 reviewed p.T195 0.000 94 0% 37 54.1% 0 - - - - HMMPfam_AIG1 GIMAP8 155038 genome.wustl.edu 37 7 150171646 150171646 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175571.2 +1 reviewed p.R410M 0.000 107 0.9% 53 45.3% 1 0% possibly_damaging(0.835) tolerated(0.09) deleterious(0.615) HMMPfam_AIG1,superfamily_SSF52540 GIMAP8 155038 genome.wustl.edu 37 7 150174541 150174541 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175571.2 +1 reviewed p.T557 0.000 91 0% 65 46.2% 2 0% - - - HMMPfam_AIG1,superfamily_SSF52540 GIMAP2 26157 genome.wustl.edu 37 7 150389664 150389664 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015660.2 +1 reviewed p.R97M 0.016 76 0% 32 37.5% 1 0% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_AIG1,superfamily_SSF52540 TMEM176A 55365 genome.wustl.edu 37 7 150499362 150499362 + Silent SNP C C T rs140770075 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018487.2 +1 validated p.R78 0.004 155 0% 138 50% 12 0% - - - HMMPfam_LR8 ABP1 26 genome.wustl.edu 37 7 150555016 150555016 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001091.2 +1 reviewed p.H486 0.074 37 0% 24 45.8% 3 66.6% - - - HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain NOS3 4846 genome.wustl.edu 37 7 150710390 150710390 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000603.4 +1 reviewed p.E1060K 1.000 10 0% 15 53.3% 39 46.1% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain ABCB8 11194 genome.wustl.edu 37 7 150739068 150739068 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007188.3 +1 reviewed p.T546 0.003 15 0% 19 36.8% 25 48% - - - HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 SLC4A2 6522 genome.wustl.edu 37 7 150765066 150765066 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003040.3 +1 validated p.E358K 0.996 31 0% 39 35.9% 32 50% benign(0.018) tolerated(0.06) neutral(0.323) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A2 6522 genome.wustl.edu 37 7 150769170 150769170 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003040.3 +1 validated p.A828T 1.000 79 0% 67 44.8% 100 53% benign(0.045) tolerated(0.11) neutral(0.274) HMMPfam_HCO3_cotransp AGAP3 116988 genome.wustl.edu 37 7 150817078 150817078 + Nonsense_Mutation SNP C C T rs191096334 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000467724 +1 known p.R98* 1.000 10 0.000 8 0.500 56 30.3% possibly_damaging(0.824) deleterious(0.04) deleterious(0.661) NULL SMARCD3 6604 genome.wustl.edu 37 7 150937528 150937528 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003801.1 -1 reviewed p.V340 1.000 75 0% 72 41.7% 52 38.4% - - - superfamily_SWIB/MDM2 domain NUB1 51667 genome.wustl.edu 37 7 151064031 151064031 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016118.3 +1 validated p.C269W 0.891 114 0% 83 45.8% 15 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRKAG2 51422 genome.wustl.edu 37 7 151292508 151292508 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016203.3 -1 reviewed p.R263* 1.000 162 0% 95 36.8% 16 37.5% - - - NULL GALNTL5 168391 genome.wustl.edu 37 7 151680185 151680185 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145292.3 +1 validated p.T161 0.468 127 0% 119 52.9% 0 - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases MLL3 58508 genome.wustl.edu 37 7 151845745 151845745 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170606.2 -1 reviewed p.D4423Y 1.000 79 0% 31 38.7% 26 46.1% unknown(0) - - NULL MLL3 58508 genome.wustl.edu 37 7 151927004 151927004 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000457618 -1 known p.N119H 0.995 398 0% 166 11.4% 0 - - - - NULL ACTR3B 57180 genome.wustl.edu 37 7 152550659 152550659 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020445.4 +1 validated p.S386 0.980 24 0% 34 47.1% 29 51.7% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain PAXIP1 22976 genome.wustl.edu 37 7 154767882 154767882 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007349.3 -1 reviewed p.E200* 0.994 329 0% 226 47.3% 8 0% - - - NULL HTR5A 3361 genome.wustl.edu 37 7 154862802 154862802 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024012.2 +1 reviewed p.I65V 1.000 28 0% 18 38.9% 0 - probably_damaging(0.979) deleterious(0.04) deleterious(0.771) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HTR5A 3361 genome.wustl.edu 37 7 154862844 154862844 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024012.2 +1 reviewed p.V79M 1.000 22 0% 16 31.2% 0 - benign(0.029) deleterious(0.04) neutral(0.350) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NOM1 64434 genome.wustl.edu 37 7 156759714 156759714 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138400.1 +1 provisional p.T742 0.742 528 0% 271 44.6% 4 25% - - - HMMPfam_MA3,HMMSmart_MA3 UBE3C 9690 genome.wustl.edu 37 7 157009619 157009619 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014671.2 +1 validated p.P623H 1.000 114 0.9% 65 36.9% 27 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NCAPG2 54892 genome.wustl.edu 37 7 158439163 158439163 + Silent SNP C C T rs192363025 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441982 -1 known p.R811Q 0.000 279 0% 101 42.6% 23 34.7% - - - NULL NCAPG2 54892 genome.wustl.edu 37 7 158468202 158468202 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441982 -1 known p.R233Q 0.003 115 0% 50 48% 25 48% - - - superfamily_ARM repeat WDR60 55112 genome.wustl.edu 37 7 158669357 158669357 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018051.4 +1 validated p.R183I 0.998 287 0% 170 43.5% 2 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_WD40 repeat-like ZNF596 169270 genome.wustl.edu 37 8 196220 196220 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042415.1 +1 validated p.R458I 0.000 214 0% 113 63.7% 2 100% probably_damaging(0.99) tolerated(0.39) neutral(0.458) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 FBXO25 26260 genome.wustl.edu 37 8 401397 401397 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183421.1 +1 reviewed p.R202* 1.000 370 0% 295 20.3% 59 5% - - - NULL DLGAP2 9228 genome.wustl.edu 37 8 1497534 1497534 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004745.3 +1 reviewed p.S225 0.225 4 0.000 10 0.600 0 - - - - NULL DLGAP2 9228 genome.wustl.edu 37 8 1626757 1626757 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004745.3 +1 reviewed p.M809T 1.000 22 0% 32 28.1% 0 - possibly_damaging(0.56) deleterious(0) deleterious(0.635) HMMPfam_GKAP MYOM2 9172 genome.wustl.edu 37 8 1998973 1998973 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003970.2 +1 validated p.E31 0.846 74 0% 96 78.1% 0 - - - - NULL MYOM2 9172 genome.wustl.edu 37 8 2000292 2000292 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003970.2 +1 validated p.A42T 0.000 44 0% 75 54.7% 0 - benign(0) tolerated(0.32) neutral(0.024) NULL MYOM2 9172 genome.wustl.edu 37 8 2057285 2057285 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003970.2 +1 validated p.R1048Q 0.995 210 0% 202 13.4% 0 - benign(0.175) tolerated(0.3) neutral(0.044) NULL CSMD1 64478 genome.wustl.edu 37 8 2820773 2820773 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033225.5 -1 validated p.V3143A 0.748 24 0% 32 37.5% 0 - benign(0.058) tolerated(0.09) neutral(0.300) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 2855536 2855536 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033225.5 -1 validated p.R2793* 0.521 26 0% 20 80% 0 - - - - superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 2954436 2954436 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033225.5 -1 validated p.N2359S 1.000 259 0% 173 50.9% 0 - possibly_damaging(0.944) tolerated(0.66) neutral(0.391) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 2967697 2967697 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033225.5 -1 validated p.N2198 0.212 140 0% 109 45.9% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3000164 3000164 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033225.5 -1 validated p.E2023K 1.000 225 0% 232 74.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3008925 3008925 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033225.5 -1 validated p.G2010S 1.000 184 0% 154 22.7% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3267028 3267028 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033225.5 -1 validated p.P555L 1.000 42 0% 40 32.5% 0 - benign(0) tolerated(0.3) neutral(0.029) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain MCPH1 79648 genome.wustl.edu 37 8 6299628 6299628 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024596.3 +1 reviewed p.N207 0.000 566 0% 382 42.9% 10 30% - - - NULL MCPH1 79648 genome.wustl.edu 37 8 6301994 6301994 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024596.3 +1 reviewed p.L251 0.000 375 0% 282 17.7% 10 20% - - - NULL ANGPT2 285 genome.wustl.edu 37 8 6360744 6360744 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001147.2 -1 reviewed p.G457R 1.000 181 0% 258 22.9% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen C-terminal domain-like ANGPT2 285 genome.wustl.edu 37 8 6385128 6385128 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001147.2 -1 reviewed p.K172Q 1.000 1015 0% 898 24.2% 5 20% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL XKR5 389610 genome.wustl.edu 37 8 6690240 6690240 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207411.4 -1 validated p.R81W 1.000 54 0% 82 31.7% 0 - - - - HMMPfam_XK-related DEFA4 1669 genome.wustl.edu 37 8 6794409 6794409 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001925.1 -1 reviewed p.A5T 0.000 45 0% 78 17.9% 0 - unknown(0) tolerated(0.31) - HMMPfam_Defensin_propep ENSG00000164845 0 genome.wustl.edu 37 8 8092012 8092012 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000338711 +1 known p.A83D 1.000 23 0% 27 22.2% 3 0% - - - NULL SGK223 157285 genome.wustl.edu 37 8 8175769 8175769 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080826.1 -1 validated p.G1372 0.205 20 0% 37 56.8% 25 40% - - - NULL SGK223 157285 genome.wustl.edu 37 8 8176344 8176344 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080826.1 -1 validated p.A1181T 0.000 5 0.000 11 0.364 0 - benign(0) tolerated(0.41) neutral(0.015) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SGK223 157285 genome.wustl.edu 37 8 8197042 8197042 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080826.1 -1 validated p.G756S 0.998 56 0% 64 34.4% 29 13.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SGK223 157285 genome.wustl.edu 37 8 8239157 8239157 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080826.1 -1 validated p.F34C 1.000 28 0% 32 37.5% 9 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL MFHAS1 9258 genome.wustl.edu 37 8 8747627 8747627 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004225.2 -1 reviewed p.H981R 1.000 41 0% 44 47.7% 65 52.3% probably_damaging(0.975) tolerated(0.18) deleterious(0.473) NULL MFHAS1 9258 genome.wustl.edu 37 8 8747634 8747634 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004225.2 -1 reviewed p.T979A 1.000 43 0% 48 25% 62 20.9% possibly_damaging(0.851) deleterious(0.04) deleterious(0.676) NULL MFHAS1 9258 genome.wustl.edu 37 8 8748256 8748256 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004225.2 -1 reviewed p.A771 0.000 22 0% 36 27.8% 31 19.3% - - - NULL ERI1 90459 genome.wustl.edu 37 8 8875812 8875812 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153332.3 +1 validated p.Q196H 0.991 220 0% 144 23.6% 21 28.5% benign(0.181) tolerated(0.16) neutral(0.076) HMMSmart_EXOIII,superfamily_RNaseH_fold,HMMPfam_Exonuc_X-T MIR597 693182 genome.wustl.edu 37 8 9599259 9599259 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000384968 +1 known NULL 0.000 218 0% 161 29.2% 0 - - - - - TNKS 8658 genome.wustl.edu 37 8 9609137 9609137 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003747.2 +1 validated p.L951V 0.094 86 0% 70 27.1% 24 29.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RP1L1 94137 genome.wustl.edu 37 8 10465891 10465891 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178857.5 -1 validated p.A1906V 0.000 199 0% 278 19.8% 0 - unknown(0) tolerated(0.14) - HMMPfam_S-antigen RP1L1 94137 genome.wustl.edu 37 8 10465976 10465976 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178857.5 -1 validated p.E1878* 0.061 176 0% 244 44.3% 0 - - - - HMMPfam_S-antigen RP1L1 94137 genome.wustl.edu 37 8 10466259 10466259 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178857.5 -1 validated p.A1783 0.000 151 0% 224 24.1% 0 - - - - HMMPfam_S-antigen RP1L1 94137 genome.wustl.edu 37 8 10467228 10467228 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178857.5 -1 validated p.T1460 0.000 19 5.3% 36 61.1% 0 - - - - NULL RP1L1 94137 genome.wustl.edu 37 8 10468390 10468390 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178857.5 -1 validated p.R1073Q 0.000 4 0.000 10 0.400 0 - possibly_damaging(0.948) tolerated(0.23) neutral(0.432) NULL PINX1 54984 genome.wustl.edu 37 8 10677739 10677739 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017884.4 -1 provisional p.C145 1.000 263 0% 203 24.1% 12 25% - - - NULL XKR6 286046 genome.wustl.edu 37 8 10755783 10755783 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000382461 -1 known p.G312V 1.000 16 0% 29 37.9% 0 - - - - NULL XKR6 286046 genome.wustl.edu 37 8 10756267 10756267 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173683.3 -1 provisional p.S374Y 1.000 50 2% 95 67.4% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_XK-related XKR6 286046 genome.wustl.edu 37 8 10782234 10782234 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173683.3 -1 provisional p.R291C 1.000 33 0% 36 41.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_XK-related MTMR9 66036 genome.wustl.edu 37 8 11167182 11167182 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015458.3 +1 reviewed p.A319V 1.000 61 0% 44 22.7% 13 7.6% possibly_damaging(0.762) deleterious(0.01) deleterious(0.688) superfamily_SSF52799 MTMR9 66036 genome.wustl.edu 37 8 11174403 11174403 + Splice_Site SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015458.3 +1 reviewed e8+1 1.000 76 0% 65 27.7% 0 - - - - - MTMR9 66036 genome.wustl.edu 37 8 11180248 11180248 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015458.3 +1 reviewed p.R534M 1.000 168 0% 141 20.6% 5 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL ENSG00000205879 0 genome.wustl.edu 37 8 12032523 12032523 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000382200 -1 known p.Q88H 0.004 56 0% 87 26.4% 0 - - - - NULL OR7E8P 346708 genome.wustl.edu 37 8 12542192 12542192 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000317826 -1 known p.L165 0.054 192 0% 163 17.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR7E8P 346708 genome.wustl.edu 37 8 12542535 12542535 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000317826 -1 known p.A51V 0.102 15 0% 18 72.2% 0 - - - - superfamily_SSF81321 KIAA1456 57604 genome.wustl.edu 37 8 12870239 12870239 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020844.2 +1 validated p.T67 0.274 190 0% 176 26.1% 0 - - - - HMMPfam_Methyltransf_11,superfamily_S-adenosyl-L-methionine-dependent methyltransferases KIAA1456 57604 genome.wustl.edu 37 8 12879416 12879416 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020844.2 +1 validated p.R410C 1.000 124 0% 129 27.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DLC1 10395 genome.wustl.edu 37 8 12943908 12943908 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182643.2 -1 reviewed p.R1453C 1.000 117 0% 124 25.8% 18 11.1% probably_damaging(0.965) tolerated(0.13) deleterious(0.659) HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like DLC1 10395 genome.wustl.edu 37 8 12950316 12950316 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182643.2 -1 reviewed p.R1182H 1.000 27 0% 68 50% 13 7.6% possibly_damaging(0.792) deleterious(0.01) deleterious(0.703) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP DLC1 10395 genome.wustl.edu 37 8 12952672 12952672 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182643.2 -1 reviewed p.V1084M 1.000 35 0% 53 32.1% 19 10.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DLC1 10395 genome.wustl.edu 37 8 12956082 12956082 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182643.2 -1 reviewed p.H998R 1.000 93 0% 98 45.9% 9 44.4% benign(0.003) tolerated(0.65) neutral(0.003) NULL TUSC3 7991 genome.wustl.edu 37 8 15519734 15519734 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006765.2 +1 reviewed p.G213C 0.992 386 0% 237 18.6% 297 22.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_OST3_OST6 CNOT7 29883 genome.wustl.edu 37 8 17092286 17092286 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013354.5 -1 reviewed p.R186Q 0.994 320 0% 253 25.3% 110 26.3% benign(0.233) tolerated(0.25) neutral(0.060) HMMPfam_CAF1,superfamily_Ribonuclease H-like SLC7A2 6542 genome.wustl.edu 37 8 17407881 17407881 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003046.5 +1 validated p.T297M 0.892 248 0% 240 22.9% 0 - benign(0.078) deleterious(0.03) neutral(0.370) HMMPfam_AA_permease SLC7A2 6542 genome.wustl.edu 37 8 17412462 17412462 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003046.5 +1 validated p.G395S 1.000 446 0% 333 18.9% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_AA_permease SLC7A2 6542 genome.wustl.edu 37 8 17421137 17421137 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003046.5 +1 validated p.A605V 0.529 479 0% 378 27.5% 0 - benign(0) tolerated(0.67) neutral(0.003) NULL MTUS1 57509 genome.wustl.edu 37 8 17510974 17510974 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001924.2 -1 reviewed p.S1083L 0.178 314 0% 270 20% 7 0% benign(0.015) tolerated(0.24) neutral(0.038) NULL MTUS1 57509 genome.wustl.edu 37 8 17573288 17573288 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001924.2 -1 reviewed p.T858A 0.012 239 0% 219 38.8% 15 33.3% benign(0.009) deleterious(0) neutral(0.445) NULL MTUS1 57509 genome.wustl.edu 37 8 17612042 17612042 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001924.2 -1 reviewed p.T425 0.000 146 0% 198 71.7% 10 80% - - - NULL PCM1 5108 genome.wustl.edu 37 8 17810632 17810632 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006197.3 +1 validated p.K409Q 1.000 193 0% 158 25.9% 38 21% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) NULL PCM1 5108 genome.wustl.edu 37 8 17815134 17815134 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006197.3 +1 validated p.E630 0.927 220 0% 228 22.4% 28 21.4% - - - NULL ASAH1 427 genome.wustl.edu 37 8 17942296 17942296 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004315.4 -1 reviewed p.I5 0.000 27 0% 65 52.3% 7 57.1% - - - NULL PSD3 23362 genome.wustl.edu 37 8 18490156 18490156 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015310.3 -1 validated p.R793W 1.000 326 0% 176 24.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 CSGALNACT1 55790 genome.wustl.edu 37 8 19266190 19266190 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130518.1 -1 validated p.T415A 1.000 304 0% 210 64.8% 1 0% probably_damaging(0.994) tolerated(0.16) deleterious(0.512) HMMPfam_CHGN,superfamily_SSF53448 LPL 4023 genome.wustl.edu 37 8 19805714 19805714 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000311322 +1 known p.E38K 0.995 93 0% 95 73.7% 0 - possibly_damaging(0.804) tolerated(0.46) neutral(0.315) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases SLC18A1 6570 genome.wustl.edu 37 8 20003281 20003281 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135691.2 -1 validated p.E524G 0.924 72 0% 101 20.8% 0 - benign(0.066) tolerated(0.11) neutral(0.276) NULL ATP6V1B2 526 genome.wustl.edu 37 8 20068118 20068118 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001693.3 +1 reviewed p.G142C 1.000 337 0% 174 44.8% 73 38.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases ATP6V1B2 526 genome.wustl.edu 37 8 20072362 20072362 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001693.3 +1 reviewed p.R321 0.999 115 0% 67 11.9% 99 21.2% - - - HMMPfam_ATP-synt_ab,superfamily_P-loop containing nucleoside triphosphate hydrolases XPO7 23039 genome.wustl.edu 37 8 21827087 21827087 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100161.1 +1 validated p.R87W 1.000 259 0% 222 10.8% 61 8.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IBN_N,superfamily_ARM repeat XPO7 23039 genome.wustl.edu 37 8 21832234 21832234 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100161.1 +1 validated p.R191 1.000 560 0.2% 502 21.3% 51 13.7% - - - superfamily_ARM repeat NPM2 10361 genome.wustl.edu 37 8 21890687 21890687 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182795.1 +1 validated p.L106R 0.892 62 0% 89 13.5% 26 11.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain FAM160B2 64760 genome.wustl.edu 37 8 21956559 21956559 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022749.5 +1 validated p.A356T 1.000 48 0% 90 18.9% 56 17.8% probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMPfam_RAI16-like HR 55806 genome.wustl.edu 37 8 21983099 21983099 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005144.4 -1 reviewed p.R518W 0.000 19 0% 40 45% 0 - possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) NULL HR 55806 genome.wustl.edu 37 8 21986135 21986135 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005144.4 -1 reviewed p.P183 0.004 10 0% 16 50% 0 - - - - NULL LGI3 203190 genome.wustl.edu 37 8 22006274 22006274 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139278.2 -1 validated p.S349F 1.000 12 0% 35 17.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPTP BMP1 649 genome.wustl.edu 37 8 22054347 22054347 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006129.4 +1 reviewed p.G640 1.000 17 0% 49 20.4% 65 4.6% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain BMP1 649 genome.wustl.edu 37 8 22066962 22066962 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006129.4 +1 reviewed p.C860 0.759 21 0% 54 24.1% 28 14.2% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain BMP1 649 genome.wustl.edu 37 8 22066963 22066963 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006129.4 +1 reviewed p.G861R 1.000 24 0% 56 32.1% 28 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PIWIL2 55124 genome.wustl.edu 37 8 22212962 22212962 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135721.1 +1 validated p.H956Y 1.000 74 0% 69 43.5% 0 - benign(0) deleterious(0) neutral(0.445) HMMPfam_Piwi,superfamily_Ribonuclease H-like PDLIM2 64236 genome.wustl.edu 37 8 22452115 22452115 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176871.2 +1 validated p.R352W 0.000 78 0% 98 41.8% 1 0% unknown(0) - - NULL KIAA1967 57805 genome.wustl.edu 37 8 22472459 22472459 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021174.4 +1 validated p.A384T 1.000 13 0% 34 55.9% 118 47.4% possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL BIN3 55909 genome.wustl.edu 37 8 22478956 22478956 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018688.4 -1 reviewed p.L247 1.000 37 0% 55 20% 51 23.5% - - - NULL ENSG00000245025 0 genome.wustl.edu 37 8 22865436 22865436 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000502083 -1 known NULL 0.000 16 0% 38 21.1% 1 0% - - - - TNFRSF10B 8795 genome.wustl.edu 37 8 22886001 22886001 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003842.4 -1 reviewed p.T197 0.001 76 0% 108 27.8% 46 26% - - - NULL TNFRSF10B 8795 genome.wustl.edu 37 8 22886064 22886064 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003842.4 -1 reviewed p.I176 0.000 91 0% 136 21.3% 62 20.9% - - - HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like R3HCC1 203069 genome.wustl.edu 37 8 23148945 23148945 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136108.1 +1 validated p.E121D 0.767 71 0% 123 26% 96 23.9% benign(0.006) tolerated(0.13) neutral(0.253) NULL NKX3-1 4824 genome.wustl.edu 37 8 23538795 23538795 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006167.3 -1 validated p.N215S 0.000 47 0% 94 29.8% 7 42.8% benign(0.001) tolerated(0.33) neutral(0.024) NULL ADAM7 8756 genome.wustl.edu 37 8 24333986 24333986 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380789 +1 known p.R225Q 0.989 344 0% 170 21.2% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM7 8756 genome.wustl.edu 37 8 24349474 24349474 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380789 +1 known p.M472T 0.169 78 0% 58 55.2% 0 - benign(0) tolerated(0.33) neutral(0.024) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) ADAM7 8756 genome.wustl.edu 37 8 24358371 24358371 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380789 +1 known p.R691C 0.141 514 0% 336 17% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NEFM 4741 genome.wustl.edu 37 8 24771775 24771775 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005382.2 +1 reviewed p.L157M 1.000 8 0.000 16 0.250 2 0% probably_damaging(0.993) tolerated(0.16) deleterious(0.510) HMMPfam_Filament NEFM 4741 genome.wustl.edu 37 8 24774859 24774859 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005382.2 +1 reviewed p.E497 1.000 161 0% 182 23.1% 3 0% - - - NULL NEFL 4747 genome.wustl.edu 37 8 24813260 24813260 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000221169 -1 known p.A257V 1.000 26 0% 38 15.8% 0 - - - - HMMPfam_Filament DOCK5 80005 genome.wustl.edu 37 8 25158123 25158123 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024940.6 +1 validated p.G266R 1.000 232 0% 218 66.5% 11 72.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOCK5 80005 genome.wustl.edu 37 8 25166346 25166346 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024940.6 +1 validated p.P366L 1.000 66 0% 73 32.9% 9 55.5% possibly_damaging(0.923) tolerated(0.06) deleterious(0.695) NULL DOCK5 80005 genome.wustl.edu 37 8 25247792 25247792 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024940.6 +1 validated p.E1448D 1.000 42 2.4% 53 28.3% 9 22.2% benign(0.245) tolerated(0.69) neutral(0.027) NULL EBF2 64641 genome.wustl.edu 37 8 25747376 25747376 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022659.2 -1 validated p.S215P 1.000 57 0% 43 20.9% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL PNMA2 10687 genome.wustl.edu 37 8 26365436 26365436 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007257.5 -1 validated p.A279V 0.166 54 1.9% 74 47.3% 0 - possibly_damaging(0.854) tolerated(0.25) neutral(0.366) HMMPfam_Retrotrans_gag PNMA2 10687 genome.wustl.edu 37 8 26366192 26366192 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007257.5 -1 validated p.P27L 0.099 84 0% 104 52.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DPYSL2 1808 genome.wustl.edu 37 8 26441470 26441470 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001386.4 +1 validated p.A95V 1.000 71 0% 95 25.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases DPYSL2 1808 genome.wustl.edu 37 8 26510752 26510752 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001386.4 +1 validated p.A489V 1.000 54 0% 83 53% 9 11.1% benign(0.103) tolerated(0.54) neutral(0.015) NULL ADRA1A 148 genome.wustl.edu 37 8 26721736 26721736 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033303.3 -1 reviewed p.A251T 0.048 19 0% 42 42.9% 1 100% benign(0) tolerated(0.72) neutral(0.002) HMMPfam_7tm_1,superfamily_SSF81321 ADRA1A 148 genome.wustl.edu 37 8 26722109 26722109 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033303.3 -1 reviewed p.I126 0.946 17 0% 41 73.2% 1 100% - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 PTK2B 2185 genome.wustl.edu 37 8 27255303 27255303 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004103.3 +1 reviewed p.R68W 1.000 63 0% 54 42.6% 14 28.5% benign(0.007) deleterious(0) neutral(0.445) HMMSmart_SM00295 PTK2B 2185 genome.wustl.edu 37 8 27291044 27291044 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004103.3 +1 reviewed p.G360 0.995 58 0% 84 46.4% 6 33.3% - - - NULL PTK2B 2185 genome.wustl.edu 37 8 27293270 27293270 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004103.3 +1 reviewed p.I401 1.000 31 0% 42 33.3% 8 0% - - - superfamily_Protein kinase-like (PK-like) CHRNA2 1135 genome.wustl.edu 37 8 27319181 27319181 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000742.3 -1 reviewed p.L519I 0.996 56 0% 94 43.6% 0 - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore EPHX2 2053 genome.wustl.edu 37 8 27364409 27364409 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001979.4 +1 reviewed p.I186 0.000 64 0% 81 24.7% 12 25% - - - HMMPfam_Hydrolase,superfamily_SSF56784 CLU 1191 genome.wustl.edu 37 8 27457333 27457333 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001831.2 -1 reviewed p.T428 0.064 50 0% 75 26.7% 811 26.7% - - - HMMPfam_Clusterin,HMMSmart_CLa CLU 1191 genome.wustl.edu 37 8 27457476 27457476 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001831.2 -1 reviewed p.E381K 0.032 76 0% 102 28.4% 679 21.6% benign(0.07) tolerated(0.13) neutral(0.258) HMMPfam_Clusterin,HMMSmart_CLa CLU 1191 genome.wustl.edu 37 8 27462599 27462599 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001831.2 -1 reviewed p.R276H 0.338 55 0% 97 29.9% 873 26.5% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_Clusterin,HMMSmart_CLb ESCO2 157570 genome.wustl.edu 37 8 27633925 27633925 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017420.2 +1 reviewed p.H34Y 0.000 154 0% 123 17.1% 11 18.1% benign(0) tolerated(0.25) neutral(0.037) NULL C8orf80 389643 genome.wustl.edu 37 8 27915773 27915773 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010906.1 -1 provisional e8+2 1.000 131 0% 117 43.6% 0 - - - - - C8orf80 389643 genome.wustl.edu 37 8 27922077 27922077 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010906.1 -1 provisional p.G295C 0.994 66 0% 77 27.3% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) superfamily_P-loop containing nucleoside triphosphate hydrolases C8orf80 389643 genome.wustl.edu 37 8 27925085 27925085 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010906.1 -1 provisional p.A219 0.000 151 0% 141 22% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases C8orf80 389643 genome.wustl.edu 37 8 27931974 27931974 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010906.1 -1 provisional e1-1 0.674 154 0% 132 22% 0 - - - - - ELP3 55140 genome.wustl.edu 37 8 28017836 28017836 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018091.5 +1 validated p.L450I 1.000 309 0% 215 46% 138 45.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) PNOC 5368 genome.wustl.edu 37 8 28196633 28196633 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006228.3 +1 validated p.S68N 0.029 23 0% 42 42.9% 1 100% benign(0.026) deleterious(0.01) neutral(0.407) HMMPfam_Opiods_neuropep ZNF395 55893 genome.wustl.edu 37 8 28209105 28209105 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018660.2 -1 validated p.E380 0.080 17 0% 38 47.4% 86 50% - - - NULL ZNF395 55893 genome.wustl.edu 37 8 28214227 28214227 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018660.2 -1 validated p.P181 0.000 31 0% 57 21.1% 103 29.1% - - - NULL EXTL3 2137 genome.wustl.edu 37 8 28574886 28574886 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001440.2 +1 provisional p.G437E 1.000 25 0% 50 30% 36 50% benign(0.005) tolerated(0.14) neutral(0.249) HMMPfam_Exostosin INTS9 55756 genome.wustl.edu 37 8 28628595 28628595 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018250.3 -1 reviewed p.L522 0.847 33 0% 50 70% 51 58.8% - - - NULL KIF13B 23303 genome.wustl.edu 37 8 28950367 28950367 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015254.3 -1 validated p.L1451 1.000 110 0% 110 22.7% 40 0% - - - NULL KIF13B 23303 genome.wustl.edu 37 8 28980909 28980909 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015254.3 -1 validated p.S1151 1.000 36 0% 33 33.3% 27 44.4% - - - NULL KIF13B 23303 genome.wustl.edu 37 8 29048512 29048512 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015254.3 -1 validated e4+2 1.000 279 0.4% 243 21.8% 0 - - - - - GSR 2936 genome.wustl.edu 37 8 30541683 30541683 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000637.2 -1 validated p.V359I 0.988 257 0% 271 41.7% 183 45.9% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain TEX15 56154 genome.wustl.edu 37 8 30701039 30701039 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031271.3 -1 validated p.T1832I 1.000 201 0% 141 13.5% 3 33.3% possibly_damaging(0.933) tolerated(0.13) deleterious(0.631) NULL TEX15 56154 genome.wustl.edu 37 8 30702692 30702692 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031271.3 -1 validated p.D1281G 0.224 222 0% 134 41% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL TEX15 56154 genome.wustl.edu 37 8 30702730 30702730 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031271.3 -1 validated p.I1268M 0.990 224 0% 131 27.5% 1 100% possibly_damaging(0.911) deleterious(0.03) deleterious(0.728) NULL TEX15 56154 genome.wustl.edu 37 8 30703763 30703763 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031271.3 -1 validated p.S924Y 0.003 263 0% 190 67.4% 0 - probably_damaging(0.981) deleterious(0.04) deleterious(0.774) NULL PURG 29942 genome.wustl.edu 37 8 30889534 30889534 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013357.2 -1 reviewed p.D255 0.924 82 2.4% 103 26.2% 0 - - - - HMMPfam_PurA NRG1 3084 genome.wustl.edu 37 8 32453413 32453413 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013956.3 +1 reviewed p.R56 0.968 294 0% 162 38.3% 0 - - - - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 NRG1 3084 genome.wustl.edu 37 8 32621398 32621398 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013956.3 +1 reviewed p.A472 0.337 29 0% 29 17.2% 2 0% - - - HMMPfam_Neuregulin FUT10 84750 genome.wustl.edu 37 8 33230203 33230203 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032664.3 -1 validated p.I444M 0.318 137 0% 109 20.2% 4 0% possibly_damaging(0.654) tolerated(0.27) neutral(0.264) NULL FUT10 84750 genome.wustl.edu 37 8 33246900 33246900 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032664.3 -1 validated p.D265N 0.205 126 0.8% 118 18.6% 3 0% benign(0.146) tolerated(0.24) neutral(0.050) HMMPfam_Glyco_transf_10 FUT10 84750 genome.wustl.edu 37 8 33310718 33310718 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000416169 -1 known p.R80H 0.003 109 0% 108 25% 2 50% - - - NULL FUT10 84750 genome.wustl.edu 37 8 33310999 33310999 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032664.3 -1 validated p.R37 0.685 192 0% 144 66.7% 8 75% - - - HMMPfam_Glyco_transf_10 MAK16 84549 genome.wustl.edu 37 8 33354773 33354773 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032509.3 +1 validated p.V221 0.996 614 0% 498 27.9% 40 27.5% - - - HMMPfam_Mak16 UNC5D 137970 genome.wustl.edu 37 8 35425630 35425630 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080872.2 +1 validated p.E113K 1.000 73 0% 73 28.8% 0 - possibly_damaging(0.868) deleterious(0) deleterious(0.782) superfamily_Immunoglobulin UNC5D 137970 genome.wustl.edu 37 8 35544223 35544223 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080872.2 +1 validated p.I360 0.995 95 1.1% 94 28.7% 0 - - - - HMMSmart_SM00209 UNC5D 137970 genome.wustl.edu 37 8 35583821 35583821 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080872.2 +1 validated p.V485 0.921 150 0% 83 73.5% 0 - - - - PatternScan_SERPIN UNC5D 137970 genome.wustl.edu 37 8 35647962 35647962 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080872.2 +1 validated p.L915F 1.000 119 0% 74 20.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain ERLIN2 11160 genome.wustl.edu 37 8 37595466 37595466 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007175.6 +1 validated p.A9V 1.000 226 0% 288 24.7% 29 20.6% possibly_damaging(0.494) tolerated(0.26) neutral(0.199) NULL BRF2 55290 genome.wustl.edu 37 8 37706158 37706158 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018310.2 -1 reviewed p.R57Q 1.000 301 0% 388 18.8% 28 28.5% benign(0.054) tolerated(0.78) neutral(0.005) NULL RAB11FIP1 80223 genome.wustl.edu 37 8 37732663 37732663 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002814.2 -1 validated p.A331V 0.952 94 0% 114 20.2% 39 10.2% benign(0.129) deleterious(0.04) neutral(0.360) NULL RAB11FIP1 80223 genome.wustl.edu 37 8 37732818 37732818 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002814.2 -1 validated p.A279 0.024 132 0% 129 41.1% 37 40.5% - - - NULL ASH2L 9070 genome.wustl.edu 37 8 37996371 37996371 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004674.3 +1 validated p.P586L 1.000 293 0% 360 10.8% 53 1.8% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL STAR 6770 genome.wustl.edu 37 8 38003605 38003605 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000349.2 -1 reviewed p.G176* 1.000 16 0% 25 20% 0 - - - - HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like STAR 6770 genome.wustl.edu 37 8 38005846 38005846 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000349.2 -1 reviewed e3-1 1.000 30 0% 63 46% 0 - - - - - WHSC1L1 54904 genome.wustl.edu 37 8 38133958 38133958 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023034.1 -1 reviewed p.R1310* 1.000 425 0.9% 457 22.3% 22 13.6% - - - NULL WHSC1L1 54904 genome.wustl.edu 37 8 38146958 38146958 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023034.1 -1 reviewed p.E1062* 1.000 1197 0.1% 1124 10.2% 10 0% - - - superfamily_SET domain FGFR1 2260 genome.wustl.edu 37 8 38271264 38271264 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023110.2 -1 reviewed p.R784Q 0.995 15 0% 30 40% 496 48.3% possibly_damaging(0.574) deleterious(0.04) deleterious(0.546) NULL FGFR1 2260 genome.wustl.edu 37 8 38285494 38285494 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023110.2 -1 reviewed p.R189H 1.000 173 0% 254 40.6% 205 44.8% benign(0.159) tolerated(0.16) neutral(0.073) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PLEKHA2 59339 genome.wustl.edu 37 8 38810885 38810885 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000420274 +1 known p.G258D 1.000 298 0% 302 19.9% 33 18.1% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ADAM9 8754 genome.wustl.edu 37 8 38913151 38913151 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003816.2 +1 reviewed p.E484G 1.000 291 0% 223 16.6% 82 24.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) IDO1 3620 genome.wustl.edu 37 8 39775465 39775465 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002164.4 +1 validated p.G53 0.000 155 0% 135 21.5% 46 23.9% - - - HMMPfam_IDO IDO2 169355 genome.wustl.edu 37 8 39821176 39821176 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194294.2 +1 validated p.L63R 0.153 256 0% 199 21.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IDO IDO2 169355 genome.wustl.edu 37 8 39847257 39847257 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194294.2 +1 validated p.T202 0.086 91 0% 108 29.6% 0 - - - - HMMPfam_IDO IDO2 169355 genome.wustl.edu 37 8 39873015 39873015 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194294.2 +1 validated p.P386L 0.999 80 0% 67 43.3% 0 - benign(0.416) tolerated(0.26) neutral(0.169) HMMPfam_IDO SFRP1 6422 genome.wustl.edu 37 8 41166417 41166417 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003012.4 -1 reviewed p.A88T 1.000 9 0.000 32 0.250 43 11.6% benign(0.008) tolerated(0.21) neutral(0.044) superfamily_Frizzled_Cys-rich,HMMPfam_Fz,HMMSmart_FRI SFRP1 6422 genome.wustl.edu 37 8 41166457 41166457 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003012.4 -1 reviewed p.K74N 0.999 8 0.000 25 0.640 35 80% benign(0) tolerated(0.45) neutral(0.012) superfamily_Frizzled_Cys-rich,HMMPfam_Fz,HMMSmart_FRI AGPAT6 137964 genome.wustl.edu 37 8 41467449 41467449 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178819.3 +1 validated p.R171W 1.000 31 0% 70 75.7% 62 69.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AGPAT6 137964 genome.wustl.edu 37 8 41469749 41469749 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178819.3 +1 validated p.P251L 0.999 99 0% 165 44.2% 73 52% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Acyltransferase,HMMSmart_SM00563 ANK1 286 genome.wustl.edu 37 8 41529949 41529949 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142446.1 -1 reviewed p.V1714 1.000 90 0% 120 69.2% 0 - - - - NULL ANK1 286 genome.wustl.edu 37 8 41543754 41543754 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142446.1 -1 reviewed p.R1477* 1.000 41 0% 117 66.7% 0 - - - - HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like ANK1 286 genome.wustl.edu 37 8 41550298 41550298 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142446.1 -1 reviewed p.F1283 1.000 28 0% 47 25.5% 0 - - - - NULL ANK1 286 genome.wustl.edu 37 8 41557061 41557061 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142446.1 -1 reviewed p.E864* 0.988 125 0% 157 68.2% 0 - - - - superfamily_ANK ANK1 286 genome.wustl.edu 37 8 41566384 41566384 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142446.1 -1 reviewed p.T670M 1.000 14 0% 31 35.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK KAT6A 7994 genome.wustl.edu 37 8 41790305 41790305 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099412.1 -1 validated p.T1811 0.009 143 0% 248 46% 71 38% - - - NULL KAT6A 7994 genome.wustl.edu 37 8 41790635 41790635 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099412.1 -1 validated p.P1701 0.237 31 0% 76 46.1% 6 16.6% - - - NULL KAT6A 7994 genome.wustl.edu 37 8 41790689 41790689 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099412.1 -1 validated p.P1683 0.003 15 0% 38 34.2% 5 20% - - - NULL PLAT 5327 genome.wustl.edu 37 8 42033667 42033667 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000930.3 -1 reviewed p.G511 0.494 43 0% 63 25.4% 17 11.7% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_SER PLAT 5327 genome.wustl.edu 37 8 42045454 42045454 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000930.3 -1 reviewed p.E112K 0.000 72 0% 142 18.3% 7 0% benign(0.002) tolerated(0.78) neutral(0.001) HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Kringle-like IKBKB 3551 genome.wustl.edu 37 8 42171898 42171898 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001556.1 +1 validated p.G251R 1.000 305 0% 310 26.8% 25 28% possibly_damaging(0.87) deleterious(0) deleterious(0.782) superfamily_Kinase_like IKBKB 3551 genome.wustl.edu 37 8 42175243 42175243 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001556.1 +1 validated p.E398D 1.000 253 0% 253 24.5% 20 20% benign(0.183) tolerated(0.16) neutral(0.076) NULL IKBKB 3551 genome.wustl.edu 37 8 42179668 42179668 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001556.1 +1 validated p.L612H 1.000 80 0% 118 15.3% 38 10.5% possibly_damaging(0.757) deleterious(0) deleterious(0.724) NULL SLC20A2 6575 genome.wustl.edu 37 8 42286326 42286326 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006749.3 -1 provisional p.V582M 1.000 7 0.000 24 0.250 54 9.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PHO4 SLC20A2 6575 genome.wustl.edu 37 8 42294991 42294991 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006749.3 -1 provisional p.V347M 0.996 35 0% 61 24.6% 53 28.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PHO4 C8orf40 114926 genome.wustl.edu 37 8 42401716 42401716 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135674.1 +1 validated p.L34R 1.000 442 0% 378 22.8% 86 25.5% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CHRNB3 1142 genome.wustl.edu 37 8 42587122 42587122 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000749.3 +1 validated p.T224 0.001 74 0% 100 27% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CHRNB3 1142 genome.wustl.edu 37 8 42587227 42587227 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000749.3 +1 validated p.S259 0.009 188 0.5% 226 22.6% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore FNTA 2339 genome.wustl.edu 37 8 42914292 42914292 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002027.2 +1 reviewed p.P86 1.000 165 0% 151 23.2% 46 13% - - - superfamily_Protein prenylyltransferase SGK196 84197 genome.wustl.edu 37 8 42977610 42977610 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032237.3 +1 validated p.Y215H 1.000 43 0% 54 18.5% 27 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like HGSNAT 138050 genome.wustl.edu 37 8 43037327 43037327 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152419.2 +1 reviewed p.R351Q 0.994 372 0% 524 74.8% 72 69.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2261 POTEA 340441 genome.wustl.edu 37 8 43157159 43157159 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005365.2 +1 validated p.V247I 0.029 516 0.2% 295 14.6% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat POTEA 340441 genome.wustl.edu 37 8 43157171 43157171 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005365.2 +1 validated p.L251F 0.056 543 0% 305 24.9% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat POTEA 340441 genome.wustl.edu 37 8 43173648 43173648 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005365.2 +1 validated p.E357A 0.076 1466 0% 1167 33.8% 0 - - - - NULL ENSG00000215179 0 genome.wustl.edu 37 8 47885107 47885107 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000399732 -1 known p.A375D 1.000 185 0% 156 25.6% 0 - - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48740743 48740743 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000314191 -1 known p.V2854I 0.996 341 0% 330 25.8% 78 25.6% benign(0.001) tolerated(1) - superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48776025 48776025 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000314191 -1 known p.K1894N 1.000 346 0% 278 22.3% 57 26.3% benign(0.282) tolerated(0.14) neutral(0.336) HMMPfam_NUC194,superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48798574 48798574 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081640.1 -1 validated p.R1569Q 0.037 126 0% 147 25.2% 39 12.8% - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48815248 48815248 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000314191 -1 known p.E1050 0.903 476 0% 510 47.6% 42 35.7% - - - superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48852195 48852195 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000314191 -1 known p.E343D 0.998 276 0% 231 44.6% 25 16% probably_damaging(0.964) tolerated(0.16) neutral(0.466) superfamily_ARM repeat MCM4 4173 genome.wustl.edu 37 8 48877255 48877255 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005914.2 +1 reviewed p.R272K 1.000 225 0% 211 66.4% 103 74.7% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_MCM,superfamily_Nucleic_acid_OB UBE2V2 7336 genome.wustl.edu 37 8 48955700 48955700 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003350.2 +1 reviewed p.T42A 1.000 148 0% 126 18.3% 125 21.6% benign(0.007) deleterious(0.04) neutral(0.349) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like UBE2V2 7336 genome.wustl.edu 37 8 48962499 48962499 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003350.2 +1 reviewed p.T84 1.000 240 0% 187 19.8% 97 25.7% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like EFCAB1 79645 genome.wustl.edu 37 8 49642334 49642334 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024593.3 -1 validated p.E139A 1.000 505 0% 409 41.6% 10 50% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_SSF47473 EFCAB1 79645 genome.wustl.edu 37 8 49643161 49643161 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024593.3 -1 validated p.V86A 0.706 341 0% 305 24.3% 10 10% benign(0.019) tolerated(0.38) neutral(0.019) HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 SNAI2 6591 genome.wustl.edu 37 8 49832540 49832540 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003068.3 -1 reviewed p.T180 1.000 58 0% 94 14.9% 67 23.8% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PXDNL 137902 genome.wustl.edu 37 8 52284463 52284463 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144651.4 -1 validated p.D1291N 0.578 74 0% 88 20.5% 0 - probably_damaging(0.966) tolerated(0.8) neutral(0.408) superfamily_Heme-dependent peroxidases PXDNL 137902 genome.wustl.edu 37 8 52721811 52721811 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144651.4 -1 validated p.K32E 0.421 147 0% 205 24.4% 0 - benign(0.001) tolerated(1) - superfamily_L domain-like PCMTD1 115294 genome.wustl.edu 37 8 52773807 52773807 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052937.2 -1 validated e1-1 1.000 12 0% 14 50% 0 - - - - - RB1CC1 9821 genome.wustl.edu 37 8 53569334 53569334 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014781.4 -1 reviewed p.K1019Q 0.977 274 0% 169 63.3% 8 87.5% benign(0.002) tolerated(0.48) neutral(0.011) NULL RB1CC1 9821 genome.wustl.edu 37 8 53573795 53573795 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014781.4 -1 reviewed p.L469V 1.000 183 0% 115 54.8% 24 33.3% benign(0) deleterious(0.04) neutral(0.349) NULL RB1CC1 9821 genome.wustl.edu 37 8 53589009 53589009 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014781.4 -1 reviewed p.Y164 1.000 226 0% 165 46.1% 8 12.5% - - - NULL OPRK1 4986 genome.wustl.edu 37 8 54142230 54142230 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000912.3 -1 validated p.R257Q 1.000 40 0% 60 43.3% 24 66.6% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_7tm_1,superfamily_SSF81321 OPRK1 4986 genome.wustl.edu 37 8 54147427 54147427 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000912.3 -1 validated p.D168Y 1.000 60 0% 101 24.8% 17 29.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 ATP6V1H 51606 genome.wustl.edu 37 8 54745624 54745624 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015941.2 -1 reviewed p.D46N 1.000 313 0% 262 27.1% 68 33.8% benign(0) deleterious(0) neutral(0.445) HMMPfam_V-ATPase_H,superfamily_ARM repeat RP1 6101 genome.wustl.edu 37 8 55542362 55542362 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006269.1 +1 reviewed p.A1974S 0.000 179 0% 135 29.6% 0 - possibly_damaging(0.477) deleterious(0.02) deleterious(0.540) NULL XKR4 114786 genome.wustl.edu 37 8 56436132 56436132 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052898.1 +1 provisional p.F433 1.000 131 0% 198 27.8% 0 - - - - HMMPfam_XK-related TGS1 96764 genome.wustl.edu 37 8 56699354 56699354 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024831.6 +1 validated p.P299 0.000 173 0% 131 46.6% 16 56.2% - - - NULL LYN 4067 genome.wustl.edu 37 8 56860184 56860184 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002350.2 +1 validated p.E62 1.000 181 0% 181 23.8% 17 23.5% - - - superfamily_SH3-domain LYN 4067 genome.wustl.edu 37 8 56860194 56860194 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002350.2 +1 validated p.D66Y 0.762 190 0% 187 16% 17 5.8% benign(0.009) deleterious(0.03) neutral(0.365) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain MOS 4342 genome.wustl.edu 37 8 57025703 57025703 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005372.1 -1 validated p.S280L 0.032 19 0% 38 31.6% 0 - possibly_damaging(0.454) tolerated(0.7) neutral(0.150) superfamily_Kinase_like,HMMPfam_Pkinase PLAG1 5324 genome.wustl.edu 37 8 57078943 57078943 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114634.1 -1 reviewed p.S454 0.998 110 0% 76 67.1% 0 - - - - NULL PLAG1 5324 genome.wustl.edu 37 8 57079469 57079469 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114634.1 -1 reviewed p.S279L 1.000 179 0% 123 31.7% 1 0% benign(0.037) deleterious(0.05) neutral(0.347) NULL SDR16C6P 442388 genome.wustl.edu 37 8 57307880 57307880 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000444271 -1 known p.P15 0.050 145 0% 99 23.2% 0 - - - - NULL IMPAD1 54928 genome.wustl.edu 37 8 57878771 57878771 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017813.3 -1 validated p.I263L 0.998 63 0% 86 22.1% 75 26.6% benign(0.076) tolerated(0.36) neutral(0.026) HMMPfam_Inositol_P,superfamily_SSF56655 FAM110B 90362 genome.wustl.edu 37 8 59059062 59059062 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_147189.2 +1 validated p.R91 0.988 13 0% 22 36.4% 17 23.5% - - - NULL CYP7A1 1581 genome.wustl.edu 37 8 59404069 59404069 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000780.3 -1 reviewed p.D494N 1.000 118 0% 100 19% 1 0% probably_damaging(0.976) tolerated(0.1) deleterious(0.704) HMMPfam_p450,superfamily_Cytochrome_P450 TOX 9760 genome.wustl.edu 37 8 59728014 59728014 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014729.2 -1 reviewed p.P425 0.007 80 0% 111 15.3% 7 0% - - - NULL RAB2A 5862 genome.wustl.edu 37 8 61531203 61531203 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002865.1 +1 provisional p.N180T 1.000 111 0% 57 35.1% 143 31.4% benign(0) tolerated(1) - HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases CHD7 55636 genome.wustl.edu 37 8 61654391 61654391 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017780.2 +1 reviewed p.H134Y 1.000 24 0% 37 35.1% 1 100% unknown(0) deleterious(0.02) - NULL CHD7 55636 genome.wustl.edu 37 8 61654507 61654507 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017780.2 +1 reviewed p.P172 0.008 12 0% 37 59.5% 0 - - - - NULL CHD7 55636 genome.wustl.edu 37 8 61654794 61654794 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017780.2 +1 reviewed p.S268F 1.000 37 0% 42 38.1% 2 50% possibly_damaging(0.449) deleterious(0.01) deleterious(0.552) NULL CHD7 55636 genome.wustl.edu 37 8 61754272 61754272 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017780.2 +1 reviewed p.A1535T 1.000 447 0% 343 20.4% 6 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CHD7 55636 genome.wustl.edu 37 8 61757546 61757546 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017780.2 +1 reviewed p.E1658 1.000 78 0% 55 16.4% 2 50% - - - NULL CHD7 55636 genome.wustl.edu 37 8 61763086 61763086 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017780.2 +1 reviewed p.P1813 0.202 45 0% 44 18.2% 11 0% - - - NULL CHD7 55636 genome.wustl.edu 37 8 61769032 61769032 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017780.2 +1 reviewed p.R2398H 1.000 67 0% 51 13.7% 6 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CHD7 55636 genome.wustl.edu 37 8 61773526 61773526 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017780.2 +1 reviewed p.P2558S 1.000 214 0% 169 40.2% 7 14.2% benign(0.004) tolerated(0.07) neutral(0.319) NULL CHD7 55636 genome.wustl.edu 37 8 61778114 61778114 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017780.2 +1 reviewed p.G2872 1.000 148 0% 175 19.4% 12 33.3% - - - NULL ASPH 444 genome.wustl.edu 37 8 62460750 62460750 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004318.3 -1 reviewed p.E548D 0.986 83 0% 87 27.6% 42 28.5% benign(0.096) tolerated(0.1) neutral(0.293) superfamily_SSF48452 ASPH 444 genome.wustl.edu 37 8 62557186 62557186 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004318.3 -1 reviewed p.E209K 0.823 262 0% 131 19.8% 134 29.1% probably_damaging(0.963) deleterious(0.02) deleterious(0.788) HMMPfam_Asp-B-Hydro_N,superfamily_SSF48452 ASPH 444 genome.wustl.edu 37 8 62559373 62559373 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004318.3 -1 reviewed p.E185D 0.000 480 0% 322 45.3% 101 44.5% benign(0.009) tolerated(1) neutral(0.001) HMMPfam_Asp-B-Hydro_N,superfamily_SSF48452 CYP7B1 9420 genome.wustl.edu 37 8 65528633 65528633 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004820.3 -1 reviewed p.E155D 0.469 179 0% 103 11.7% 0 - benign(0.073) tolerated(0.28) neutral(0.036) superfamily_Cytochrome P450 CYP7B1 9420 genome.wustl.edu 37 8 65528709 65528709 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004820.3 -1 reviewed p.K130T 0.000 191 0% 90 62.2% 0 - benign(0.001) tolerated(0.65) neutral(0.003) superfamily_Cytochrome P450 C8orf46 254778 genome.wustl.edu 37 8 67425830 67425830 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152765.3 +1 validated p.A133V 0.001 20 0% 46 28.3% 0 - benign(0) tolerated(0.4) neutral(0.016) NULL VCPIP1 80124 genome.wustl.edu 37 8 67547428 67547428 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025054.4 -1 validated p.R993 1.000 204 0% 185 24.9% 11 27.2% - - - NULL VCPIP1 80124 genome.wustl.edu 37 8 67577001 67577001 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025054.4 -1 validated p.K731 1.000 250 0.4% 356 69.1% 11 81.8% - - - NULL VCPIP1 80124 genome.wustl.edu 37 8 67577309 67577309 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025054.4 -1 validated p.L629I 1.000 154 0% 159 24.5% 14 50% benign(0.224) tolerated(0.16) neutral(0.081) NULL SGK3 23678 genome.wustl.edu 37 8 67759446 67759446 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033578.1 +1 reviewed p.D365Y 1.000 229 0% 203 46.8% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C8orf45 157777 genome.wustl.edu 37 8 67808428 67808428 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173518.4 +1 validated p.V435M 1.000 353 0.3% 328 23.8% 1 0% benign(0.113) deleterious(0.01) neutral(0.415) HMMSmart_SM00350 C8orf45 157777 genome.wustl.edu 37 8 67808545 67808545 + Nonsense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173518.4 +1 validated p.K474* 0.999 250 0% 295 23.7% 0 - - - - HMMSmart_SM00350 CSPP1 79848 genome.wustl.edu 37 8 67999073 67999073 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077204.1 +1 validated p.K143E 1.000 515 0% 432 44% 0 - benign(0.401) deleterious(0) deleterious(0.574) NULL CSPP1 79848 genome.wustl.edu 37 8 68024268 68024268 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077204.1 +1 validated p.E429D 1.000 270 0% 175 17.7% 11 0% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL CSPP1 79848 genome.wustl.edu 37 8 68087596 68087596 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077204.1 +1 validated p.E1042* 1.000 145 0% 152 26.3% 18 16.6% - - - NULL CSPP1 79848 genome.wustl.edu 37 8 68102898 68102898 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077204.1 +1 validated p.E1108 1.000 100 0% 100 20% 18 16.6% - - - NULL ARFGEF1 10565 genome.wustl.edu 37 8 68138302 68138302 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006421.3 -1 reviewed p.R1345* 1.000 96 0% 66 18.2% 61 3.2% - - - superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68140468 68140468 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006421.3 -1 reviewed p.N1138H 1.000 351 0% 202 75.2% 15 86.6% possibly_damaging(0.822) deleterious(0.01) deleterious(0.717) superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68150667 68150667 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006421.3 -1 reviewed p.R1067Q 1.000 149 0% 149 20.1% 31 9.6% benign(0.392) tolerated(0.51) neutral(0.135) superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68213490 68213490 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006421.3 -1 reviewed p.R94H 1.000 156 0% 129 26.4% 18 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold PREX2 80243 genome.wustl.edu 37 8 69017483 69017483 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025170.4 +1 validated p.E942 0.000 143 0% 97 45.4% 4 50% - - - NULL PREX2 80243 genome.wustl.edu 37 8 69058535 69058535 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024870.2 +1 validated p.Q1393 0.946 696 0% 390 20.5% 21 23.8% - - - NULL C8orf34 116328 genome.wustl.edu 37 8 69351843 69351843 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052958.1 +1 predicted p.S35Y 1.000 167 0% 112 46.4% 5 60% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C8orf34 116328 genome.wustl.edu 37 8 69445348 69445348 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052958.1 +1 predicted p.D246Y 1.000 170 0% 117 28.2% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SULF1 23213 genome.wustl.edu 37 8 70476335 70476335 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128204.1 +1 validated p.R42Q 1.000 167 0% 121 25.6% 13 7.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core SULF1 23213 genome.wustl.edu 37 8 70533399 70533399 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128204.1 +1 validated p.E503K 0.999 53 0% 67 28.4% 17 0% benign(0) tolerated(0.8) neutral(0.001) superfamily_Alkaline_phosphatase_core SULF1 23213 genome.wustl.edu 37 8 70540442 70540442 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128204.1 +1 validated p.E693 0.999 221 0% 159 64.2% 13 7.6% - - - superfamily_Alkaline_phosphatase_core SLCO5A1 81796 genome.wustl.edu 37 8 70585343 70585343 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030958.2 -1 reviewed p.R770W 0.999 60 0% 77 19.5% 2 50% benign(0) tolerated(0.12) neutral(0.261) superfamily_MFS_gen_substrate_transporter SLCO5A1 81796 genome.wustl.edu 37 8 70591851 70591851 + Missense_Mutation SNP G G A rs140147912 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030958.2 -1 reviewed p.R596W 0.592 66 0% 67 20.9% 2 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895 SLCO5A1 81796 genome.wustl.edu 37 8 70744101 70744101 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030958.2 -1 reviewed p.A270T 1.000 124 0% 129 13.2% 3 33.3% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO5A1 81796 genome.wustl.edu 37 8 70744209 70744209 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030958.2 -1 reviewed p.D234N 1.000 47 0% 62 50% 3 66.6% possibly_damaging(0.948) tolerated(0.19) neutral(0.441) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter PRDM14 63978 genome.wustl.edu 37 8 70978570 70978570 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024504.2 -1 validated p.E361D 1.000 179 0% 189 42.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SET,superfamily_SSF82199 PRDM14 63978 genome.wustl.edu 37 8 70981809 70981809 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024504.2 -1 validated p.S96I 0.006 4 0.000 23 0.609 0 - possibly_damaging(0.681) deleterious(0.03) deleterious(0.607) NULL NCOA2 10499 genome.wustl.edu 37 8 71068239 71068239 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006540.2 -1 validated p.E787D 1.000 160 0% 144 43.1% 10 70% possibly_damaging(0.604) tolerated(0.39) neutral(0.225) NULL XKR9 389668 genome.wustl.edu 37 8 71646035 71646035 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001011720.1 +1 provisional p.A166 0.076 197 0% 155 41.9% 0 - - - - HMMPfam_XK-related XKR9 389668 genome.wustl.edu 37 8 71646186 71646186 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001011720.1 +1 provisional p.M217V 1.000 806 0% 542 20.5% 0 - benign(0) tolerated(0.41) neutral(0.015) HMMPfam_XK-related EYA1 2138 genome.wustl.edu 37 8 72111651 72111651 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000503.4 -1 reviewed p.A568V 0.965 22 0% 31 25.8% 0 - benign(0.008) deleterious(0) neutral(0.445) HMMPfam_Hydrolase EYA1 2138 genome.wustl.edu 37 8 72156870 72156870 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000503.4 -1 reviewed p.A370S 1.000 181 0% 163 41.7% 1 0% benign(0.008) tolerated(0.09) neutral(0.296) HMMPfam_Hydrolase TRPA1 8989 genome.wustl.edu 37 8 72950218 72950218 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007332.2 -1 reviewed p.Q795H 1.000 179 0% 108 20.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPA1 8989 genome.wustl.edu 37 8 72951975 72951975 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007332.2 -1 reviewed p.L707V 1.000 361 0% 169 25.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC392232 392232 genome.wustl.edu 37 8 73140400 73140400 + RNA SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_037363.2 -1 model NULL 1.000 77 0% 44 13.6% 0 - - - - - LOC392232 392232 genome.wustl.edu 37 8 73157251 73157251 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_037363.2 -1 model NULL 0.967 117 0% 78 65.4% 0 - - - - - KCNB2 9312 genome.wustl.edu 37 8 73848257 73848257 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004770.2 +1 reviewed p.E223K 1.000 174 0.6% 202 24.3% 0 - benign(0.006) deleterious(0.02) neutral(0.383) superfamily_SSF81324 KCNB2 9312 genome.wustl.edu 37 8 73848532 73848532 + Silent SNP C C T rs145537672 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004770.2 +1 reviewed p.L314 0.935 63 0% 68 29.4% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 UBE2W 55284 genome.wustl.edu 37 8 74722769 74722769 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001481.1 -1 validated p.A113 0.989 88 0% 64 43.8% 33 45.4% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like LOC100287016 100287016 genome.wustl.edu 37 8 74897004 74897004 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342849.1 +1 model p.E93* 1.000 134 0.7% 118 23.7% 1 0% - - - HMMPfam_Cofilin_ADF,superfamily_Actin depolymerizing proteins PI15 51050 genome.wustl.edu 37 8 75737672 75737672 + Missense_Mutation SNP C C T rs192682386 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015886.3 +1 reviewed p.S63L 1.000 76 0% 37 67.6% 1 100% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) superfamily_SCP-like_extracellular CRISPLD1 83690 genome.wustl.edu 37 8 75925223 75925223 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031461.4 +1 validated p.R159K 1.000 236 0% 126 27% 16 25% benign(0.002) tolerated(0.25) neutral(0.037) HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like HNF4G 3174 genome.wustl.edu 37 8 76456170 76456170 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004133.4 +1 validated p.G71 0.975 137 0% 87 21.8% 2 100% - - - HMMPfam_zf-C4,HMMSmart_ZnF_C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_SSF57716 HNF4G 3174 genome.wustl.edu 37 8 76463634 76463634 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004133.4 +1 validated p.E122* 1.000 99 1% 66 54.5% 1 0% - - - HMMPfam_zf-C4,superfamily_Str_ncl_receptor,superfamily_SSF57716 HNF4G 3174 genome.wustl.edu 37 8 76465279 76465279 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004133.4 +1 validated p.I154 1.000 185 0% 89 76.4% 5 20% - - - superfamily_Str_ncl_receptor HNF4G 3174 genome.wustl.edu 37 8 76465316 76465316 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004133.4 +1 validated p.V167I 0.966 240 0% 114 23.7% 1 0% benign(0) tolerated(0.23) neutral(0.042) superfamily_Str_ncl_receptor ZFHX4 79776 genome.wustl.edu 37 8 77616536 77616536 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024721.4 +1 validated p.A71 1.000 46 0% 70 17.1% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77616698 77616698 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024721.4 +1 validated p.E125D 0.990 100 0% 98 36.7% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL ZFHX4 79776 genome.wustl.edu 37 8 77617188 77617188 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024721.4 +1 validated p.Y289H 1.000 567 0% 421 42% 0 - benign(0.189) - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77618177 77618177 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024721.4 +1 validated p.C618 0.935 50 2% 70 15.7% 0 - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZFHX4 79776 genome.wustl.edu 37 8 77761900 77761900 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024721.4 +1 validated p.T1221 0.138 87 0% 63 19% 0 - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZFHX4 79776 genome.wustl.edu 37 8 77763746 77763746 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024721.4 +1 validated p.T1485M 1.000 40 0% 22 50% 0 - possibly_damaging(0.898) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77767130 77767130 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024721.4 +1 validated p.A2613V 1.000 30 0% 30 16.7% 0 - probably_damaging(0.998) - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 ZBTB10 65986 genome.wustl.edu 37 8 81399514 81399514 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105539.1 +1 validated p.G157W 1.000 6 0.000 12 0.500 15 53.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL ZNF704 619279 genome.wustl.edu 37 8 81577316 81577316 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033723.1 -1 provisional p.R221C 1.000 80 0% 71 38% 25 56% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ZFAND1 79752 genome.wustl.edu 37 8 82627345 82627345 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024699.2 -1 validated p.T48N 0.612 246 0% 200 18% 33 18.1% benign(0) tolerated(0.82) neutral(0.001) HMMPfam_zf-AN1,HMMSmart_SM00154 CHMP4C 92421 genome.wustl.edu 37 8 82670443 82670443 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152284.3 +1 validated p.R184C 0.007 234 0% 119 21.8% 32 15.6% probably_damaging(0.965) deleterious(0.03) deleterious(0.771) HMMPfam_Snf7 ENSG00000231942 0 genome.wustl.edu 37 8 82720129 82720129 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000417520 +1 known p.T27 1.000 15 0% 12 75% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD LRRCC1 85444 genome.wustl.edu 37 8 86021900 86021900 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033402.4 +1 validated p.E59K 0.007 244 0% 224 64.3% 1 100% benign(0) tolerated(0.13) neutral(0.253) superfamily_Outer arm dynein light chain 1 LRRCC1 85444 genome.wustl.edu 37 8 86027485 86027485 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033402.4 +1 validated p.S232Y 0.993 97 0% 88 67% 10 60% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL LRRCC1 85444 genome.wustl.edu 37 8 86044165 86044165 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033402.4 +1 validated p.A646D 1.000 278 0% 186 37.1% 17 58.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CA3 761 genome.wustl.edu 37 8 86357415 86357415 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005181.3 +1 reviewed p.F159L 0.000 367 0% 304 67.8% 3 66.6% benign(0) tolerated(0.55) neutral(0.007) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd CA3 761 genome.wustl.edu 37 8 86360276 86360276 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005181.3 +1 reviewed p.R226Q 1.000 17 0% 25 28% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd ATP6V0D2 245972 genome.wustl.edu 37 8 87162504 87162504 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152565.1 +1 validated p.A268V 0.999 74 0% 68 20.6% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d WWP1 11059 genome.wustl.edu 37 8 87414286 87414286 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007013.3 +1 validated p.V193A 0.213 114 0% 90 66.7% 22 77.2% benign(0) tolerated(0.46) neutral(0.012) NULL WWP1 11059 genome.wustl.edu 37 8 87443954 87443954 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007013.3 +1 validated p.R528H 1.000 204 0% 190 21.6% 26 23% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_SM00456,superfamily_WW domain WWP1 11059 genome.wustl.edu 37 8 87447713 87447713 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007013.3 +1 validated p.R545H 1.000 272 0% 255 67.5% 30 63.3% probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_Hect E3 ligase catalytic domain CNGB3 54714 genome.wustl.edu 37 8 87616354 87616354 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019098.4 -1 reviewed p.T583I 1.000 273 0% 189 45.5% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like CNGB3 54714 genome.wustl.edu 37 8 87660039 87660039 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019098.4 -1 reviewed p.R327M 0.998 240 0% 83 16.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CNBD1 168975 genome.wustl.edu 37 8 87878770 87878770 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173538.2 +1 provisional p.A16D 0.000 185 0% 128 25.8% 0 - possibly_damaging(0.635) deleterious(0) deleterious(0.666) NULL CNBD1 168975 genome.wustl.edu 37 8 87951945 87951945 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173538.2 +1 provisional p.E132K 0.001 190 0% 114 10.5% 0 - probably_damaging(0.991) tolerated(0.19) deleterious(0.493) NULL CNBD1 168975 genome.wustl.edu 37 8 88298885 88298885 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173538.2 +1 provisional p.F343C 1.000 293 0% 120 27.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_cNMP_binding,superfamily_cNMP_binding MMP16 4325 genome.wustl.edu 37 8 89054017 89054017 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005941.4 -1 reviewed p.T499M 1.000 281 0.4% 174 71.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP16 4325 genome.wustl.edu 37 8 89086854 89086854 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005941.4 -1 reviewed p.G401R 1.000 241 0% 133 23.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP16 4325 genome.wustl.edu 37 8 89209503 89209503 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005941.4 -1 reviewed p.P55 0.787 121 0% 74 41.9% 3 100% - - - HMMPfam_PG_binding_1,superfamily_PGBD-like OSGIN2 734 genome.wustl.edu 37 8 90921803 90921803 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001126111.1 +1 validated p.S18N 0.981 215 0% 158 25.9% 7 14.2% benign(0) tolerated(0.33) neutral(0.024) NULL CALB1 793 genome.wustl.edu 37 8 91081439 91081439 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004929.2 -1 reviewed p.E86D 1.000 129 0% 92 68.5% 2 0% benign(0.118) deleterious(0) neutral(0.454) superfamily_EF-hand NECAB1 64168 genome.wustl.edu 37 8 91893332 91893332 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022351.4 +1 validated p.L111M 1.000 211 0% 132 50% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_EF-hand OTUD6B 51633 genome.wustl.edu 37 8 92083496 92083496 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016023.3 +1 validated p.K101N 0.090 215 0.9% 228 20.2% 16 12.5% benign(0.016) tolerated(0.37) neutral(0.019) NULL SLC26A7 115111 genome.wustl.edu 37 8 92330588 92330588 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_134266.1 +1 reviewed p.G208R 1.000 256 0% 143 22.4% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfate_transp SLC26A7 115111 genome.wustl.edu 37 8 92355683 92355683 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_134266.1 +1 reviewed p.A377S 0.958 143 0% 101 25.7% 6 16.6% benign(0.018) deleterious(0.01) neutral(0.406) HMMPfam_Sulfate_transp RBM12B 389677 genome.wustl.edu 37 8 94748379 94748379 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203390.2 -1 validated p.R87I 1.000 341 0% 320 68.8% 9 66.6% probably_damaging(0.966) deleterious(0) deleterious(0.853) superfamily_RNA-binding domain RBD RBM12B 389677 genome.wustl.edu 37 8 94748580 94748580 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203390.2 -1 validated p.R20H 1.000 62 0% 74 17.6% 4 75% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00360 PDP1 54704 genome.wustl.edu 37 8 94934270 94934270 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000396200 +1 known p.P46S 1.000 91 0% 149 42.3% 35 57.1% possibly_damaging(0.789) deleterious(0) deleterious(0.740) NULL PDP1 54704 genome.wustl.edu 37 8 94934551 94934551 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018444.3 +1 reviewed p.I88 1.000 236 0% 242 43.8% 21 38% - - - superfamily_Protein serine/threonine phosphatase 2C catalytic domain PDP1 54704 genome.wustl.edu 37 8 94934897 94934897 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018444.3 +1 reviewed p.A204S 1.000 135 0% 143 25.9% 21 28.5% benign(0.012) tolerated(0.67) neutral(0.003) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain GEM 2669 genome.wustl.edu 37 8 95272414 95272414 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005261.3 -1 reviewed p.C106 0.869 26 0% 56 14.3% 36 16.6% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD54B 25788 genome.wustl.edu 37 8 95416359 95416359 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012415.2 -1 reviewed p.R297Q 1.000 283 0% 162 24.1% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_DEXDc,superfamily_SSF52540 KIAA1429 25962 genome.wustl.edu 37 8 95504926 95504926 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015496.3 -1 validated p.G1588* 1.000 395 0% 365 22.2% 36 2.7% - - - NULL KIAA1429 25962 genome.wustl.edu 37 8 95538526 95538526 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015496.3 -1 validated p.P649H 1.000 322 0% 210 37.6% 22 68.1% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL ESRP1 54845 genome.wustl.edu 37 8 95677269 95677269 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017697.3 +1 validated p.M290I 1.000 190 0% 234 46.6% 121 49.5% benign(0.163) tolerated(0.88) neutral(0.015) HMMSmart_SM00360,superfamily_RNA-binding domain RBD DPY19L4 286148 genome.wustl.edu 37 8 95746906 95746906 + Missense_Mutation SNP C C T rs147410800 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181787.2 +1 validated p.A59V 1.000 336 0% 376 72.3% 7 57.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DUF2211 DPY19L4 286148 genome.wustl.edu 37 8 95774027 95774027 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181787.2 +1 validated p.L279 0.999 456 0% 382 22.3% 11 18.1% - - - HMMPfam_DUF2211 INTS8 55656 genome.wustl.edu 37 8 95877917 95877917 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017864.2 +1 provisional p.R754W 1.000 264 0% 292 43.8% 44 34% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C8orf38 137682 genome.wustl.edu 37 8 96044228 96044228 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152416.2 +1 reviewed p.R68Q 1.000 273 0% 257 24.5% 20 20% possibly_damaging(0.526) tolerated(0.26) neutral(0.211) HMMPfam_SQS_PSY,superfamily_Terpenoid synthases GDF6 392255 genome.wustl.edu 37 8 97156944 97156944 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000435084 -1 known p.A322T 0.994 32 0% 80 16.3% 4 75% unknown(0) - - NULL CPQ 10404 genome.wustl.edu 37 8 97797502 97797502 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016134.2 +1 provisional p.R126I 0.155 106 0% 70 32.9% 45 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TSPYL5 85453 genome.wustl.edu 37 8 98289482 98289482 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033512.2 -1 validated p.A197 0.000 49 0% 79 62% 0 - - - - NULL TSPYL5 85453 genome.wustl.edu 37 8 98289557 98289557 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033512.2 -1 validated p.A172 0.001 55 0% 70 60% 0 - - - - NULL MTDH 92140 genome.wustl.edu 37 8 98712029 98712029 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178812.3 +1 validated p.W366R 1.000 484 0% 352 21.9% 128 30.4% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL MTDH 92140 genome.wustl.edu 37 8 98735143 98735143 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178812.3 +1 validated p.P520S 1.000 174 0% 162 20.4% 126 21.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MATN2 4147 genome.wustl.edu 37 8 98973663 98973663 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002380.3 +1 reviewed p.H288R 0.978 60 0% 54 16.7% 60 36.6% benign(0.119) deleterious(0) neutral(0.454) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin C8orf47 203111 genome.wustl.edu 37 8 99105481 99105481 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173549.2 +1 validated p.E349K 0.548 250 0% 205 22% 15 20% unknown(0) - - NULL POP1 10940 genome.wustl.edu 37 8 99158878 99158878 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015029.2 +1 reviewed p.C559 1.000 404 0% 307 24.4% 5 60% - - - NULL POP1 10940 genome.wustl.edu 37 8 99162777 99162777 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015029.2 +1 reviewed p.S656L 0.985 188 0% 179 23.5% 7 42.8% benign(0.291) tolerated(0.06) neutral(0.412) HMMPfam_POPLD POP1 10940 genome.wustl.edu 37 8 99170199 99170199 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015029.2 +1 reviewed p.R925 0.000 19 0% 31 77.4% 12 58.3% - - - NULL NIPAL2 79815 genome.wustl.edu 37 8 99215392 99215392 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024759.1 -1 provisional p.T275M 0.058 233 0% 188 41% 4 0% benign(0.003) tolerated(0.08) neutral(0.300) HMMPfam_DUF803 STK3 6788 genome.wustl.edu 37 8 99591893 99591893 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006281.2 -1 validated p.S316L 1.000 752 0% 445 69.4% 35 65.7% possibly_damaging(0.801) tolerated(0.07) deleterious(0.621) NULL OSR2 116039 genome.wustl.edu 37 8 99961232 99961232 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142462.1 +1 validated p.L18I 1.000 10 0% 21 23.8% 25 12% possibly_damaging(0.666) deleterious(0) deleterious(0.680) NULL VPS13B 157680 genome.wustl.edu 37 8 100155260 100155260 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017890.3 +1 reviewed p.Q570 1.000 224 0% 193 23.8% 3 33.3% - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100523567 100523567 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017890.3 +1 reviewed p.A1512G 1.000 331 0% 218 28% 2 0% benign(0.282) tolerated(0.43) neutral(0.100) NULL VPS13B 157680 genome.wustl.edu 37 8 100654082 100654082 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017890.3 +1 reviewed p.G1780D 0.194 53 0% 47 17% 5 0% benign(0.2) tolerated(0.61) neutral(0.023) NULL VPS13B 157680 genome.wustl.edu 37 8 100831756 100831756 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017890.3 +1 reviewed p.G2938E 1.000 157 0% 86 24.4% 5 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL VPS13B 157680 genome.wustl.edu 37 8 100866425 100866425 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017890.3 +1 reviewed p.A3628V 1.000 53 0% 70 30% 13 23% probably_damaging(0.987) deleterious(0.03) deleterious(0.801) NULL RGS22 26166 genome.wustl.edu 37 8 101011490 101011490 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015668.3 -1 validated p.K983N 1.000 147 0% 104 20.2% 0 - probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL RGS22 26166 genome.wustl.edu 37 8 101092468 101092468 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015668.3 -1 validated p.R78Q 0.997 446 0% 344 69.2% 0 - probably_damaging(0.997) tolerated(0.28) deleterious(0.498) NULL SPAG1 6674 genome.wustl.edu 37 8 101252746 101252746 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003114.3 +1 reviewed p.P799L 0.000 134 1.5% 130 48.5% 8 37.5% benign(0) tolerated(0.46) neutral(0.012) superfamily_Protein prenylyltransferase RNF19A 25897 genome.wustl.edu 37 8 101271182 101271182 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015435.3 -1 reviewed p.E707* 1.000 403 0.5% 273 44.7% 43 60.4% - - - NULL PABPC1 26986 genome.wustl.edu 37 8 101730421 101730421 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002568.3 -1 validated p.R94H 1.000 247 0% 253 20.2% 1165 20.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNA-binding domain RBD YWHAZ 7534 genome.wustl.edu 37 8 101937190 101937190 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135699.1 -1 reviewed p.D124E 1.000 109 0% 101 25.7% 596 28.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein NCALD 83988 genome.wustl.edu 37 8 102701581 102701581 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040624.1 -1 reviewed p.V180M 1.000 36 0% 64 17.2% 29 13.7% probably_damaging(0.966) tolerated(0.09) deleterious(0.704) superfamily_EF-hand UBR5 51366 genome.wustl.edu 37 8 103324017 103324017 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015902.4 -1 reviewed p.S788 1.000 193 0.5% 191 21.5% 18 27.7% - - - NULL UBR5 51366 genome.wustl.edu 37 8 103357660 103357660 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015902.4 -1 reviewed p.R284C 1.000 161 0% 172 66.9% 19 57.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ODF1 4956 genome.wustl.edu 37 8 103572688 103572688 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024410.3 +1 reviewed p.R110K 1.000 135 0% 116 19.8% 0 - possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL ODF1 4956 genome.wustl.edu 37 8 103573084 103573084 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024410.3 +1 reviewed p.R242Q 1.000 20 0% 30 70% 0 - unknown(0) deleterious(0) - NULL FZD6 8323 genome.wustl.edu 37 8 104340562 104340562 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003506.3 +1 reviewed p.G487S 1.000 421 0% 247 38.5% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Frizzled CTHRC1 115908 genome.wustl.edu 37 8 104388228 104388228 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000415886 +1 known p.G138D 0.003 35 0% 37 10.8% 0 - unknown(0) deleterious(0) - NULL RIMS2 9699 genome.wustl.edu 37 8 104898105 104898105 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100117.1 +1 validated p.Q426H 1.000 71 0% 37 43.2% 0 - benign(0.002) tolerated(0.17) neutral(0.059) NULL RIMS2 9699 genome.wustl.edu 37 8 104948865 104948865 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100117.1 +1 validated p.R821Q 1.000 215 0% 191 21.5% 0 - possibly_damaging(0.933) deleterious(0.04) deleterious(0.728) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RIMS2 9699 genome.wustl.edu 37 8 105025822 105025822 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100117.1 +1 validated p.S1066Y 1.000 90 0% 72 19.4% 0 - probably_damaging(0.984) tolerated(0.56) neutral(0.437) NULL RIMS2 9699 genome.wustl.edu 37 8 105026801 105026801 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100117.1 +1 validated p.R1098* 0.998 113 0% 76 42.1% 0 - - - - NULL RIMS2 9699 genome.wustl.edu 37 8 105257190 105257190 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100117.1 +1 validated p.E1127D 0.992 91 0% 48 18.8% 1 0% possibly_damaging(0.775) deleterious(0.01) deleterious(0.694) NULL DPYS 1807 genome.wustl.edu 37 8 105405171 105405171 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001385.2 -1 reviewed p.F428 0.997 100 0% 75 74.7% 0 - - - - superfamily_Metalo_hydrolase DPYS 1807 genome.wustl.edu 37 8 105463594 105463594 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001385.2 -1 reviewed p.F101 0.894 49 0% 52 65.4% 0 - - - - HMMPfam_Amidohydro_1,superfamily_SSF51556 LRP12 29967 genome.wustl.edu 37 8 105502997 105502997 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013437.4 -1 reviewed p.R828 1.000 203 0% 156 47.4% 17 47% - - - NULL OXR1 55074 genome.wustl.edu 37 8 107695484 107695484 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018002.2 +1 validated p.E121K 1.000 369 0% 291 22% 21 28.5% probably_damaging(0.974) tolerated(0.1) deleterious(0.702) HMMSmart_SM00257,HMMPfam_LysM,superfamily_LysM domain OXR1 55074 genome.wustl.edu 37 8 107758069 107758069 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018002.2 +1 validated p.S795L 1.000 590 0.3% 401 43.4% 26 46.1% possibly_damaging(0.712) deleterious(0) deleterious(0.702) HMMPfam_TLD,HMMSmart_SM00584 ANGPT1 284 genome.wustl.edu 37 8 108296964 108296964 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001146.3 -1 reviewed p.R384Q 0.996 248 0% 155 44.5% 5 40% benign(0.001) tolerated(0.64) neutral(0.003) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like EIF3E 3646 genome.wustl.edu 37 8 109240563 109240563 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001568.2 -1 validated p.L219M 1.000 240 0% 170 21.2% 632 24.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NUDCD1 84955 genome.wustl.edu 37 8 110287683 110287683 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032869.3 -1 validated p.W357* 1.000 214 0.5% 166 47% 43 16.2% - - - superfamily_HSP20-like chaperones PKHD1L1 93035 genome.wustl.edu 37 8 110416854 110416854 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177531.4 +1 validated p.R482Q 0.011 268 0% 149 67.1% 37 72.9% benign(0.061) tolerated(0.61) neutral(0.008) HMMSmart_SM00758 PKHD1L1 93035 genome.wustl.edu 37 8 110453000 110453000 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177531.4 +1 validated p.G1340C 1.000 406 0% 202 22.8% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PKHD1L1 93035 genome.wustl.edu 37 8 110477165 110477165 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177531.4 +1 validated p.A2702T 1.000 157 0% 145 23.4% 37 40.5% possibly_damaging(0.853) deleterious(0.03) deleterious(0.693) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110487475 110487475 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177531.4 +1 validated p.T2912A 0.327 265 0% 156 39.1% 22 40.9% benign(0.026) tolerated(0.26) neutral(0.035) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110497366 110497366 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177531.4 +1 validated p.L3224I 1.000 348 0% 105 17.1% 44 25% benign(0.03) tolerated(0.3) neutral(0.030) superfamily_Pectin lyase-like PKHD1L1 93035 genome.wustl.edu 37 8 110520341 110520341 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177531.4 +1 validated p.S3748L 1.000 239 0% 144 44.4% 41 14.6% benign(0.11) tolerated(0.21) neutral(0.052) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110535017 110535017 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177531.4 +1 validated p.H4076 0.002 61 1.6% 39 12.8% 151 7.2% - - - NULL CSMD3 114788 genome.wustl.edu 37 8 113237037 113237037 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198123.1 -1 validated p.F3696C 1.000 331 0% 401 70.3% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL CSMD3 114788 genome.wustl.edu 37 8 113241093 113241093 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198123.1 -1 validated p.S3619Y 1.000 247 0% 155 73.5% 0 - probably_damaging(0.983) deleterious(0.04) deleterious(0.778) NULL CSMD3 114788 genome.wustl.edu 37 8 113246689 113246689 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198123.1 -1 validated p.E3549* 1.000 369 0% 267 24.3% 0 - - - - NULL CSMD3 114788 genome.wustl.edu 37 8 113349921 113349921 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198123.1 -1 validated p.R2231Q 1.000 149 0% 86 77.9% 0 - probably_damaging(1) tolerated(0.86) deleterious(0.500) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113649184 113649184 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198123.1 -1 validated p.R1193* 0.905 221 0% 145 59.3% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113651096 113651096 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198123.1 -1 validated p.D1119Y 1.000 113 0% 82 28% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113988098 113988098 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198123.1 -1 validated p.R437I 1.000 415 0% 262 72.5% 0 - unknown(0) deleterious(0) - NULL CSMD3 114788 genome.wustl.edu 37 8 114031300 114031300 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198123.1 -1 validated p.Y342 1.000 247 0% 270 28.5% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 114326923 114326923 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198123.1 -1 validated p.W93* 1.000 470 0% 420 50% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TRPS1 7227 genome.wustl.edu 37 8 116426930 116426930 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014112.2 -1 reviewed p.S1069Y 1.000 348 0% 203 21.7% 30 20% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL EIF3H 8667 genome.wustl.edu 37 8 117668111 117668111 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003756.2 -1 validated p.L231I 1.000 175 0% 121 24.8% 719 24.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC30A8 169026 genome.wustl.edu 37 8 118175669 118175669 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173851.2 +1 reviewed p.E243 0.996 369 0% 261 58.6% 0 - - - - HMMPfam_Cation_efflux MED30 90390 genome.wustl.edu 37 8 118533268 118533268 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080651.2 +1 validated p.I51 1.000 12 0% 10 40% 45 40% - - - NULL EXT1 2131 genome.wustl.edu 37 8 119122606 119122606 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000127.2 -1 reviewed p.R227Q 1.000 50 0% 83 59% 46 56.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Exostosin NOV 4856 genome.wustl.edu 37 8 120430356 120430356 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002514.3 +1 reviewed p.F123L 0.984 122 0% 153 25.5% 39 17.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_VWC,HMMSmart_VWC ENPP2 5168 genome.wustl.edu 37 8 120650706 120650706 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006209.3 -1 reviewed p.R32Q 1.000 220 0% 163 25.8% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAF2 6873 genome.wustl.edu 37 8 120818589 120818589 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003184.3 -1 reviewed p.D118N 1.000 155 0% 137 48.2% 14 71.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Peptidase_M1,superfamily_SSF63737 MTBP 27085 genome.wustl.edu 37 8 121463439 121463439 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022045.3 +1 provisional p.H101P 1.000 429 0% 326 19.9% 2 0% possibly_damaging(0.517) tolerated(0.23) neutral(0.215) NULL HAS2 3037 genome.wustl.edu 37 8 122626655 122626655 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005328.2 -1 reviewed p.K451N 1.000 73 0% 90 30% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL WDR67 93594 genome.wustl.edu 37 8 124113171 124113171 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145647.3 +1 validated p.R319Q 1.000 243 0% 151 20.5% 7 28.5% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMSmart_SM00320,superfamily_WD40 repeat-like WDR67 93594 genome.wustl.edu 37 8 124117676 124117676 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145647.3 +1 validated p.D394G 0.002 183 0% 132 20.5% 4 25% benign(0.273) tolerated(0.43) neutral(0.043) NULL WDR67 93594 genome.wustl.edu 37 8 124121566 124121566 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145647.3 +1 validated p.P407S 0.982 315 0% 181 26% 5 40% benign(0.001) tolerated(1) - NULL ZHX1 11244 genome.wustl.edu 37 8 124266351 124266351 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017926.1 -1 reviewed p.I612 0.992 600 0% 347 67.7% 7 57.1% - - - HMMSmart_HOX,superfamily_Homeodomain_like ZHX1 11244 genome.wustl.edu 37 8 124266956 124266956 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017926.1 -1 reviewed p.A411S 0.998 107 0% 104 48.1% 27 48.1% benign(0.001) tolerated(1) - NULL ATAD2 29028 genome.wustl.edu 37 8 124358331 124358331 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014109.3 -1 reviewed p.A843T 1.000 161 0% 137 16.8% 36 19.4% possibly_damaging(0.94) tolerated(0.11) deleterious(0.657) superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD2 29028 genome.wustl.edu 37 8 124371923 124371923 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014109.3 -1 reviewed p.C387Y 1.000 168 0% 154 24% 25 32% probably_damaging(0.974) tolerated(0.17) deleterious(0.475) NULL FAM91A1 157769 genome.wustl.edu 37 8 124787436 124787436 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144963.2 +1 validated p.K69 0.999 241 0% 198 48% 23 60.8% - - - NULL FAM91A1 157769 genome.wustl.edu 37 8 124796718 124796718 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144963.2 +1 validated p.L238I 1.000 536 0% 309 10% 21 4.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM91A1 157769 genome.wustl.edu 37 8 124799504 124799504 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144963.2 +1 validated p.D361G 1.000 74 0% 55 41.8% 42 57.1% benign(0.005) tolerated(0.23) neutral(0.042) NULL TRMT12 55039 genome.wustl.edu 37 8 125464045 125464045 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017956.3 +1 validated p.D293Y 1.000 59 0% 61 26.2% 16 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Met_10,superfamily_SSF53335 TATDN1 83940 genome.wustl.edu 37 8 125528185 125528185 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032026.3 -1 validated p.L97 0.996 325 0% 252 11.5% 85 17.6% - - - HMMPfam_TatD_DNase,superfamily_Metallo-dependent hydrolases ZNF572 137209 genome.wustl.edu 37 8 125989012 125989012 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152412.2 +1 validated p.C168G 0.984 68 0% 57 64.9% 0 - benign(0.005) tolerated(0.23) neutral(0.042) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KIAA0196 9897 genome.wustl.edu 37 8 126056810 126056810 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014846.3 -1 reviewed p.L879I 1.000 161 0% 146 24% 33 12.1% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Strumpellin NSMCE2 286053 genome.wustl.edu 37 8 126370044 126370044 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173685.2 +1 validated p.R204W 0.017 85 0% 80 48.7% 78 42.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SSF57850 TRIB1 10221 genome.wustl.edu 37 8 126445744 126445744 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025195.2 +1 validated p.A182 0.015 54 0% 70 27.1% 19 26.3% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) POU5F1B 5462 genome.wustl.edu 37 8 128428985 128428985 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000391675 +1 known p.A292T 0.001 18 0% 36 16.7% 4 0% benign(0.003) tolerated(0.09) neutral(0.296) NULL FAM49B 51571 genome.wustl.edu 37 8 130861569 130861569 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000311292 -1 known p.L207P 1.000 192 0.5% 144 19.4% 89 24.7% possibly_damaging(0.795) deleterious(0.01) deleterious(0.704) HMMPfam_DUF1394 ASAP1 50807 genome.wustl.edu 37 8 131138205 131138205 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018482.2 -1 validated p.L504 1.000 124 0% 116 19% 19 42.1% - - - HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP ADCY8 114 genome.wustl.edu 37 8 131922006 131922006 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001115.2 -1 reviewed p.W530G 1.000 194 0% 155 21.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1 ADCY8 114 genome.wustl.edu 37 8 131964127 131964127 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001115.2 -1 reviewed p.Y410H 1.000 74 0% 100 24% 0 - probably_damaging(1) tolerated(0.89) deleterious(0.500) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ADCY8 114 genome.wustl.edu 37 8 132051858 132051858 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001115.2 -1 reviewed p.Y241C 1.000 15 0% 31 19.4% 0 - possibly_damaging(0.928) deleterious(0) deleterious(0.820) NULL EFR3A 23167 genome.wustl.edu 37 8 132982784 132982784 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015137.3 +1 validated p.F351 0.719 152 0% 143 70.6% 15 66.6% - - - superfamily_ARM repeat EFR3A 23167 genome.wustl.edu 37 8 132982840 132982840 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015137.3 +1 validated p.S370Y 0.901 162 0% 127 15.7% 23 26% benign(0.037) tolerated(0.06) neutral(0.325) superfamily_ARM repeat HHLA1 10086 genome.wustl.edu 37 8 133076278 133076278 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145095.1 -1 provisional p.K520 0.994 285 0% 203 71.9% 0 - - - - NULL HHLA1 10086 genome.wustl.edu 37 8 133099954 133099954 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145095.1 -1 provisional p.E208* 0.982 284 0% 208 23.6% 0 - - - - NULL KCNQ3 3786 genome.wustl.edu 37 8 133141657 133141657 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004519.2 -1 reviewed p.S824L 0.455 26 0% 39 64.1% 2 50% benign(0.418) tolerated(0.07) neutral(0.455) NULL KCNQ3 3786 genome.wustl.edu 37 8 133150208 133150208 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004519.2 -1 reviewed p.D542N 0.998 75 0% 78 28.2% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_KCNQ_channel KCNQ3 3786 genome.wustl.edu 37 8 133182625 133182625 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004519.2 -1 reviewed p.A397 0.288 62 0% 60 66.7% 1 0% - - - NULL PHF20L1 51105 genome.wustl.edu 37 8 133811053 133811053 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016018.4 +1 validated p.R126C 1.000 314 0% 134 73.9% 17 64.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00333,HMMSmart_SM00743,superfamily_Tudor/PWWP/MBT PHF20L1 51105 genome.wustl.edu 37 8 133856452 133856452 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016018.4 +1 validated p.E934K 0.915 236 0% 108 23.1% 12 8.3% benign(0.001) tolerated(0.19) neutral(0.050) NULL TG 7038 genome.wustl.edu 37 8 133923701 133923701 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003235.4 +1 reviewed p.R1361H 0.388 239 0% 281 25.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TG 7038 genome.wustl.edu 37 8 133941365 133941365 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003235.4 +1 reviewed p.D1582N 0.001 248 0% 224 65.2% 0 - benign(0.001) tolerated(0.12) neutral(0.261) NULL TG 7038 genome.wustl.edu 37 8 133980182 133980182 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003235.4 +1 reviewed p.P1944S 0.999 48 0% 30 36.7% 0 - possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL SLA 6503 genome.wustl.edu 37 8 134072522 134072522 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006748.3 -1 validated p.L2F 0.917 80 0% 102 38.2% 0 - benign(0) - - NULL NDRG1 10397 genome.wustl.edu 37 8 134292492 134292492 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135242.1 -1 reviewed p.Q28* 0.991 168 0% 170 43.5% 561 37.7% - - - superfamily_alpha/beta-Hydrolases ST3GAL1 6482 genome.wustl.edu 37 8 134474202 134474202 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003033.3 -1 reviewed p.V255 1.000 34 0% 78 69.2% 12 50% - - - HMMPfam_Glyco_transf_29 ZFAT 57623 genome.wustl.edu 37 8 135649719 135649719 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020863.3 -1 reviewed p.E145* 1.000 73 0% 103 15.5% 2 0% - - - NULL FAM135B 51059 genome.wustl.edu 37 8 139165159 139165159 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015912.3 -1 validated p.T520I 0.209 112 0% 99 22.2% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL COL22A1 169044 genome.wustl.edu 37 8 139611051 139611051 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152888.1 -1 validated p.G1426C 1.000 32 0% 53 20.8% 0 - unknown(0) deleterious(0) - HMMPfam_Collagen COL22A1 169044 genome.wustl.edu 37 8 139703091 139703091 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000341807 -1 known p.R176W 0.005 37 0% 45 24.4% 0 - - - - HMMPfam_Collagen KCNK9 51305 genome.wustl.edu 37 8 140630718 140630718 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016601.2 -1 reviewed p.R303H 0.616 26 0% 52 15.4% 0 - benign(0.028) tolerated(0.11) neutral(0.273) NULL KCNK9 51305 genome.wustl.edu 37 8 140631031 140631031 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016601.2 -1 reviewed p.T199A 1.000 10 0% 23 34.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans_2,superfamily_SSF81324 KCNK9 51305 genome.wustl.edu 37 8 140715117 140715117 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016601.2 -1 reviewed p.K40T 1.000 49 0% 85 29.4% 0 - benign(0.025) tolerated(0.59) neutral(0.005) superfamily_SSF81324 CHRAC1 54108 genome.wustl.edu 37 8 141525425 141525425 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_023360.1 +1 validated NULL 0.000 125 0% 127 16.5% 50 26% - - - - EIF2C2 27161 genome.wustl.edu 37 8 141542610 141542610 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012154.3 -1 reviewed p.A785V 1.000 18 0% 25 16% 40 32.5% - - - NULL EIF2C2 27161 genome.wustl.edu 37 8 141566019 141566019 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012154.3 -1 reviewed p.R408H 0.029 28 0% 39 15.4% 15 6.6% - - - NULL EIF2C2 27161 genome.wustl.edu 37 8 141566057 141566057 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000220592 -1 known p.D403N 1.000 58 0% 72 40.3% 12 41.6% benign(0) tolerated(1) - NULL EIF2C2 27161 genome.wustl.edu 37 8 141570579 141570579 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012154.3 -1 reviewed p.P176Q 0.098 14 0% 31 22.6% 17 23.5% - - - NULL PTK2 5747 genome.wustl.edu 37 8 141675076 141675076 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005607.3 -1 reviewed p.R984S 1.000 52 0% 65 13.8% 77 5.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Focal_AT,superfamily_Focal_AT PTK2 5747 genome.wustl.edu 37 8 141753327 141753327 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005607.3 -1 reviewed e19+2 1.000 412 0% 317 10.4% 0 - - - - - PTK2 5747 genome.wustl.edu 37 8 141756951 141756951 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005607.3 -1 reviewed p.R498C 1.000 96 0% 77 81.8% 26 38.4% benign(0.073) deleterious(0) neutral(0.450) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like PTK2 5747 genome.wustl.edu 37 8 141762395 141762395 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005607.3 -1 reviewed p.V473 0.989 185 0% 133 45.9% 33 33.3% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP DENND3 22898 genome.wustl.edu 37 8 142188292 142188292 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014957.2 +1 validated p.E865K 0.997 55 1.8% 59 15.3% 7 0% benign(0.353) tolerated(0.1) neutral(0.398) NULL DENND3 22898 genome.wustl.edu 37 8 142195279 142195279 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014957.2 +1 validated p.K916E 1.000 72 0% 116 27.6% 7 14.2% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_WD40 repeat-like DENND3 22898 genome.wustl.edu 37 8 142195341 142195341 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014957.2 +1 validated p.I936 0.079 66 0% 113 46% 6 16.6% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like SLC45A4 57210 genome.wustl.edu 37 8 142221795 142221795 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080431.1 -1 provisional p.R715C 0.002 12 0% 17 35.3% 8 12.5% benign(0.021) deleterious(0.02) neutral(0.384) NULL SLC45A4 57210 genome.wustl.edu 37 8 142222392 142222392 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080431.1 -1 provisional p.A684 0.000 12 0% 23 43.5% 20 45% - - - NULL SLC45A4 57210 genome.wustl.edu 37 8 142228458 142228458 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080431.1 -1 provisional p.F376 1.000 6 0.000 11 0.364 24 20.8% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC45A4 57210 genome.wustl.edu 37 8 142229885 142229885 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080431.1 -1 provisional p.I107 0.994 6 0.000 15 0.333 16 25% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter FLJ43860 389690 genome.wustl.edu 37 8 142487990 142487990 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207414.2 -1 validated p.T417 0.413 18 0% 17 52.9% 0 - - - - NULL TSNARE1 203062 genome.wustl.edu 37 8 143381961 143381961 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145003.3 -1 validated p.V392 0.997 26 0% 28 21.4% 13 7.6% - - - superfamily_t-snare TSNARE1 203062 genome.wustl.edu 37 8 143413121 143413121 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145003.3 -1 validated p.S273T 0.799 36 0% 65 58.5% 14 35.7% benign(0.094) tolerated(0.21) neutral(0.051) superfamily_t-snare TSNARE1 203062 genome.wustl.edu 37 8 143413182 143413182 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145003.3 -1 validated p.V252 0.000 63 0% 80 16.3% 18 5.5% - - - superfamily_t-snare TSNARE1 203062 genome.wustl.edu 37 8 143425607 143425607 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145003.3 -1 validated p.A155 0.891 4 0.000 10 0.500 17 58.8% - - - NULL BAI1 575 genome.wustl.edu 37 8 143566106 143566106 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001702.2 +1 reviewed p.Y763* 1.000 18 0% 34 23.5% 2 0% - - - NULL BAI1 575 genome.wustl.edu 37 8 143569735 143569735 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001702.2 +1 reviewed p.I773 1.000 32 0% 35 40% 7 42.8% - - - NULL BAI1 575 genome.wustl.edu 37 8 143599543 143599543 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001702.2 +1 reviewed p.G954 1.000 44 0% 90 48.9% 8 25% - - - HMMPfam_7tm_2 ARC 23237 genome.wustl.edu 37 8 143694920 143694920 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015193.3 -1 validated p.W238* 1.000 9 0.000 9 0.556 0 - - - - NULL ENSG00000247396 0 genome.wustl.edu 37 8 143744185 143744185 + RNA SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000501891 +1 known NULL 0.000 49 0% 34 11.8% 4 0% - - - - LYNX1 66004 genome.wustl.edu 37 8 143856699 143856699 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177457.3 -1 reviewed p.H79 0.644 32 0% 40 12.5% 4 25% - - - HMMPfam_UPAR_LY6,HMMSmart_LU,superfamily_SSF57302 CYP11B2 1585 genome.wustl.edu 37 8 143994102 143994102 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000498.3 -1 reviewed p.A414 0.000 18 0% 70 25.7% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP11B2 1585 genome.wustl.edu 37 8 143995718 143995718 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000498.3 -1 reviewed p.A306T 1.000 85 0% 164 11% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_p450,superfamily_Cytochrome P450 GPIHBP1 338328 genome.wustl.edu 37 8 144295150 144295150 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178172.3 +1 validated p.A3V 0.002 3 0.000 13 0.692 0 - unknown(0) deleterious(0) - NULL TOP1MT 116447 genome.wustl.edu 37 8 144391625 144391625 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052963.1 -1 reviewed p.D598Y 0.960 60 0% 72 61.1% 48 64.5% probably_damaging(0.966) deleterious(0) deleterious(0.853) superfamily_DNA_brk_join_enz TOP1MT 116447 genome.wustl.edu 37 8 144403523 144403523 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052963.1 -1 reviewed p.G332S 0.998 20 0% 43 34.9% 46 19.5% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) superfamily_DNA_brk_join_enz,HMMSmart_TOPEUc,HMMPfam_Topoisom_I TOP1MT 116447 genome.wustl.edu 37 8 144406269 144406269 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052963.1 -1 reviewed p.R287Q 0.007 40 0% 60 35% 42 21.4% benign(0.008) deleterious(0.01) neutral(0.406) superfamily_DNA_brk_join_enz,HMMSmart_TOPEUc,HMMPfam_Topoisom_I RHPN1 114822 genome.wustl.edu 37 8 144458724 144458724 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052924.2 +1 validated p.T69M 1.000 6 0.000 21 0.238 45 20% possibly_damaging(0.921) deleterious(0.05) deleterious(0.716) HMMPfam_HR1,HMMSmart_Hr1,superfamily_PKN_effector ZC3H3 23144 genome.wustl.edu 37 8 144621410 144621410 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015117.2 -1 validated p.T43P 0.000 8 0.000 17 0.765 24 66.6% benign(0.321) tolerated(0.09) neutral(0.397) NULL C8orf73 642475 genome.wustl.edu 37 8 144650348 144650348 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100878.1 -1 validated p.D576 1.000 12 0% 32 37.5% 19 15.7% - - - superfamily_ARM-type_fold NAPRT1 93100 genome.wustl.edu 37 8 144657046 144657046 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145201.4 -1 validated p.A527S 0.045 11 0% 21 23.8% 259 23.9% benign(0.003) tolerated(0.44) neutral(0.013) NULL EEF1D 1936 genome.wustl.edu 37 8 144662334 144662334 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130053.1 -1 reviewed p.R585C 1.000 34 0% 49 20.4% 900 18.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EF1_GNE,superfamily_eEF-1beta-like EEF1D 1936 genome.wustl.edu 37 8 144671720 144671720 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130053.1 -1 reviewed p.V178M 0.929 6 0.000 13 0.462 51 43.1% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL PYCRL 65263 genome.wustl.edu 37 8 144689240 144689240 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023078.2 -1 validated p.I85 1.000 13 0% 23 39.1% 32 53.1% - - - HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains TSTA3 7264 genome.wustl.edu 37 8 144696876 144696876 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000433984 -1 known p.H157Q 0.000 22 0% 70 21.4% 8 12.5% - - - NULL ZNF623 9831 genome.wustl.edu 37 8 144732637 144732637 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014789.3 +1 validated p.R199C 0.927 55 0% 74 14.9% 25 20% possibly_damaging(0.482) deleterious(0) deleterious(0.605) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAPK15 225689 genome.wustl.edu 37 8 144803454 144803454 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139021.2 +1 validated p.E359D 0.019 14 7.1% 21 47.6% 33 51.5% benign(0.031) tolerated(0.49) neutral(0.012) NULL SCRIB 23513 genome.wustl.edu 37 8 144894502 144894502 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182706.3 -1 validated p.E280D 1.000 36 0% 52 23.1% 108 25.9% possibly_damaging(0.45) tolerated(0.43) neutral(0.161) HMMSmart_SM00364,superfamily_RNI-like NRBP2 340371 genome.wustl.edu 37 8 144921064 144921064 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178564.3 -1 validated p.C2 1.000 15 0% 37 43.2% 28 50% - - - NULL EPPK1 83481 genome.wustl.edu 37 8 144941104 144941104 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031308.1 -1 validated p.E2106 0.001 46 0% 96 11.5% 6 33.3% - - - NULL PLEC 5339 genome.wustl.edu 37 8 144991438 144991438 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201380.2 -1 reviewed p.S4321F 1.000 6 0.000 22 0.364 231 19.9% probably_damaging(0.999) - - HMMSmart_SM00250,superfamily_Plakin repeat PLEC 5339 genome.wustl.edu 37 8 144991961 144991961 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201380.2 -1 reviewed p.A4147T 1.000 15 0% 26 34.6% 180 24.4% probably_damaging(1) - - HMMSmart_SM00250,superfamily_Plakin repeat PLEC 5339 genome.wustl.edu 37 8 144994739 144994739 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201380.2 -1 reviewed p.A3221P 0.000 3 0.000 8 0.500 81 49.3% probably_damaging(0.997) - - HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat PLEC 5339 genome.wustl.edu 37 8 144995292 144995292 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201380.2 -1 reviewed p.S3036 0.000 33 0% 58 32.8% 92 48.9% - - - NULL PLEC 5339 genome.wustl.edu 37 8 144995381 144995381 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201380.2 -1 reviewed p.R3007C 1.000 43 0% 46 17.4% 71 22.5% probably_damaging(1) - - HMMSmart_SM00250,superfamily_Plakin repeat PARP10 84875 genome.wustl.edu 37 8 145051798 145051798 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032789.3 -1 validated p.A978T 0.992 5 0.000 15 0.800 118 64.4% benign(0.047) tolerated(0.09) neutral(0.299) HMMPfam_PARP,superfamily_SSF56399 PARP10 84875 genome.wustl.edu 37 8 145058756 145058756 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032789.3 -1 validated p.V472I 0.470 21 0% 46 15.2% 77 14.2% benign(0.017) deleterious(0) neutral(0.445) NULL MAF1 84232 genome.wustl.edu 37 8 145161332 145161332 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032272.4 +1 reviewed p.D155 0.727 36 0% 92 40.2% 386 46.1% - - - HMMPfam_Maf1 HSF1 3297 genome.wustl.edu 37 8 145535226 145535226 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005526.2 +1 reviewed p.S221Y 0.962 9 0.000 28 0.821 227 69.6% possibly_damaging(0.743) deleterious(0.01) deleterious(0.678) NULL DGAT1 8694 genome.wustl.edu 37 8 145540294 145540294 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012079.4 -1 validated p.G464R 1.000 17 0% 19 47.4% 188 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBOAT FBXL6 26233 genome.wustl.edu 37 8 145579713 145579713 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012162.1 -1 reviewed p.A463T 1.000 18 0% 24 20.8% 147 23.1% benign(0.422) deleterious(0.02) deleterious(0.520) superfamily_RNI-like FBXL6 26233 genome.wustl.edu 37 8 145580740 145580740 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012162.1 -1 reviewed p.L227 0.910 17 0% 20 25% 116 18.1% - - - HMMSmart_SM00367,superfamily_RNI-like SLC52A2 79581 genome.wustl.edu 37 8 145583536 145583536 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024531.3 +1 validated p.S128 0.993 36 0% 57 28.1% 212 16.9% - - - NULL SLC52A2 79581 genome.wustl.edu 37 8 145583655 145583655 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024531.3 +1 validated p.G168D 1.000 9 0.000 36 0.278 197 27.9% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CPSF1 29894 genome.wustl.edu 37 8 145619224 145619224 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013291.2 -1 validated p.L1297 0.995 19 0% 76 21.1% 170 19.4% - - - HMMPfam_CPSF_A MIR939 100126351 genome.wustl.edu 37 8 145619404 145619404 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000401314 -1 known NULL 0.000 11 0% 27 25.9% 11 18.1% - - - - CPSF1 29894 genome.wustl.edu 37 8 145621589 145621589 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013291.2 -1 validated p.R985C 0.991 3 0.000 20 0.400 122 50% possibly_damaging(0.795) deleterious(0.03) deleterious(0.663) NULL CPSF1 29894 genome.wustl.edu 37 8 145621890 145621890 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013291.2 -1 validated p.G917S 0.001 56 0% 117 31.6% 85 18.8% benign(0) tolerated(0.7) neutral(0.002) NULL CPSF1 29894 genome.wustl.edu 37 8 145625831 145625831 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013291.2 -1 validated p.T248M 0.988 15 0% 37 40.5% 135 43.7% benign(0.001) tolerated(0.11) neutral(0.272) NULL VPS28 51160 genome.wustl.edu 37 8 145650192 145650192 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183057.1 -1 reviewed p.P104L 1.000 34 0% 55 23.6% 540 18.8% probably_damaging(0.974) deleterious(0.03) deleterious(0.780) HMMPfam_VPS28 RECQL4 9401 genome.wustl.edu 37 8 145737380 145737380 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000428558 -1 known p.L1103M 0.807 13 0% 26 30.8% 156 25.6% - - - NULL RECQL4 9401 genome.wustl.edu 37 8 145738802 145738802 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000428558 -1 known p.R755W 1.000 4 0.000 11 0.727 40 50% - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF7 7553 genome.wustl.edu 37 8 146066787 146066787 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003416.2 +1 validated p.I99V 0.000 84 0% 85 24.7% 22 9% benign(0) tolerated(0.34) neutral(0.023) NULL ZNF16 7564 genome.wustl.edu 37 8 146157691 146157691 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029976.2 -1 reviewed p.R161H 0.016 43 0% 64 23.4% 3 33.3% benign(0.174) tolerated(0.14) neutral(0.266) superfamily_C2H2 and C2HC zinc fingers CBWD1 55871 genome.wustl.edu 37 9 172148 172148 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018491.3 -1 validated p.E121D 1.000 1435 0.1% 850 36.1% 37 45.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cobW,superfamily_P-loop containing nucleoside triphosphate hydrolases DOCK8 81704 genome.wustl.edu 37 9 286621 286621 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203447.3 +1 reviewed p.S38F 1.000 140 0% 63 47.6% 3 33.3% possibly_damaging(0.459) tolerated(0.21) neutral(0.195) NULL KANK1 23189 genome.wustl.edu 37 9 711732 711732 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015158.2 +1 reviewed p.R322 0.893 29 0% 22 36.4% 26 61.5% - - - superfamily_ANK DMRT3 58524 genome.wustl.edu 37 9 990068 990068 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021240.2 +1 validated p.G161D 0.001 23 0% 27 33.3% 0 - benign(0.025) tolerated(0.28) neutral(0.033) NULL DMRT2 10655 genome.wustl.edu 37 9 1057239 1057239 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181872.4 +1 reviewed p.R551M 1.000 66 0% 42 11.9% 0 - possibly_damaging(0.928) tolerated(0.07) deleterious(0.695) NULL SMARCA2 6595 genome.wustl.edu 37 9 2096700 2096700 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003070.3 +1 reviewed p.I976S 1.000 149 0% 87 34.5% 27 33.3% benign(0.119) deleterious(0.05) neutral(0.355) HMMPfam_SNF2_N SMARCA2 6595 genome.wustl.edu 37 9 2110410 2110410 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003070.3 +1 reviewed p.P1150H 1.000 49 0% 39 43.6% 46 41.3% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases GLIS3 169792 genome.wustl.edu 37 9 3828386 3828386 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042413.1 -1 reviewed p.S893 0.998 29 0% 19 31.6% 2 0% - - - NULL GLIS3 169792 genome.wustl.edu 37 9 3898785 3898785 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042413.1 -1 reviewed p.T678 0.028 24 4.2% 14 35.7% 11 45.4% - - - NULL CDC37L1 55664 genome.wustl.edu 37 9 4697833 4697833 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017913.2 +1 validated p.N234S 1.000 434 0% 210 47.6% 22 36.3% possibly_damaging(0.775) tolerated(0.13) deleterious(0.541) HMMPfam_CDC37_M,superfamily_SSF101391 RCL1 10171 genome.wustl.edu 37 9 4826920 4826920 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005772.3 +1 validated p.V91I 0.149 363 0% 184 44.6% 9 44.4% benign(0) tolerated(0.41) neutral(0.015) HMMPfam_RTC,superfamily_RNA3apos_cycl/enolpyr_transf_A/B JAK2 3717 genome.wustl.edu 37 9 5055688 5055688 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004972.3 +1 reviewed p.D319G 1.000 352 0% 115 42.6% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL JAK2 3717 genome.wustl.edu 37 9 5080307 5080307 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004972.3 +1 reviewed p.W737L 1.000 145 0% 66 37.9% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like INSL6 11172 genome.wustl.edu 37 9 5185363 5185363 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007179.2 -1 reviewed p.F80 0.000 41 0% 28 50% 0 - - - - HMMPfam_Insulin,HMMSmart_IlGF,superfamily_Insulin-like INSL6 11172 genome.wustl.edu 37 9 5185504 5185504 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007179.2 -1 reviewed p.C33 1.000 19 0% 23 52.2% 0 - - - - HMMPfam_Insulin,HMMSmart_IlGF,superfamily_Insulin-like C9orf46 55848 genome.wustl.edu 37 9 5361185 5361185 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018465.2 -1 provisional p.A72V 0.999 207 0% 58 39.7% 32 46.8% probably_damaging(0.977) tolerated(0.38) neutral(0.436) HMMPfam_DUF2368 KIAA1432 57589 genome.wustl.edu 37 9 5747338 5747338 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020829.2 +1 validated p.R350C 1.000 197 0% 82 41.5% 13 38.4% possibly_damaging(0.44) tolerated(0.1) neutral(0.430) superfamily_Amine_DH_B_like KIAA2026 158358 genome.wustl.edu 37 9 5922777 5922777 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017969.2 -1 validated p.W1073* 1.000 203 0% 83 42.2% 2 50% - - - NULL KIAA2026 158358 genome.wustl.edu 37 9 5969167 5969167 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017969.2 -1 validated p.R355K 1.000 145 0% 71 14.1% 9 33.3% possibly_damaging(0.672) tolerated(0.15) deleterious(0.479) NULL RANBP6 26953 genome.wustl.edu 37 9 6012772 6012772 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012416.2 -1 validated p.D946N 1.000 244 0% 136 47.1% 9 33.3% benign(0.019) tolerated(0.12) neutral(0.262) superfamily_ARM-type_fold RANBP6 26953 genome.wustl.edu 37 9 6015092 6015092 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012416.2 -1 validated p.T172 1.000 75 0% 44 43.2% 8 62.5% - - - superfamily_ARM-type_fold RANBP6 26953 genome.wustl.edu 37 9 6015301 6015301 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012416.2 -1 validated p.L103 0.997 97 0% 71 40.8% 10 40% - - - superfamily_ARM-type_fold IL33 90865 genome.wustl.edu 37 9 6251223 6251223 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033439.2 +1 validated p.V101L 0.000 246 0% 116 36.2% 1 0% benign(0.053) tolerated(0.4) neutral(0.019) NULL GLDC 2731 genome.wustl.edu 37 9 6602146 6602146 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000170.2 -1 reviewed p.R373Q 1.000 174 0% 102 29.4% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_GDC-P LOC100287684 100287684 genome.wustl.edu 37 9 6835375 6835375 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342904.1 -1 model p.N62 0.997 37 0% 36 33.3% 0 - - - - NULL KDM4C 23081 genome.wustl.edu 37 9 6984186 6984186 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015061.3 +1 reviewed p.T379I 0.180 25 0% 22 50% 14 28.5% benign(0.006) tolerated(0.19) neutral(0.050) NULL KDM4C 23081 genome.wustl.edu 37 9 7013956 7013956 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015061.3 +1 reviewed p.S713R 0.998 260 0% 83 49.4% 11 72.7% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger PTPRD 5789 genome.wustl.edu 37 9 8319963 8319963 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002839.3 -1 reviewed p.A1846 1.000 137 0% 40 42.5% 3 0% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTPRD 5789 genome.wustl.edu 37 9 8460516 8460516 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002839.3 -1 reviewed p.P1257L 1.000 167 0% 44 43.2% 0 - benign(0.334) deleterious(0.01) deleterious(0.511) NULL PTPRD 5789 genome.wustl.edu 37 9 8485948 8485948 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002839.3 -1 reviewed p.L957I 0.984 185 0% 99 43.4% 1 0% benign(0.013) tolerated(0.31) neutral(0.028) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRD 5789 genome.wustl.edu 37 9 8517874 8517874 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002839.3 -1 reviewed p.D506G 1.000 160 0% 93 49.5% 3 66.6% benign(0.019) tolerated(0.27) neutral(0.035) superfamily_Fibronectin type III PTPRD 5789 genome.wustl.edu 37 9 8521540 8521540 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002839.3 -1 reviewed p.R233H 1.000 53 0% 21 52.4% 2 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LURAP1L 286343 genome.wustl.edu 37 9 12775990 12775990 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203403.1 +1 validated p.R92 1.000 16 0% 12 83.3% 4 0% - - - NULL MPDZ 8777 genome.wustl.edu 37 9 13121892 13121892 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003829.3 -1 validated p.A1693T 1.000 164 0% 118 47.5% 8 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MPDZ 8777 genome.wustl.edu 37 9 13123200 13123200 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003829.3 -1 validated p.G1635 0.979 36 0% 27 44.4% 8 62.5% - - - HMMPfam_PDZ,superfamily_PDZ domain-like MPDZ 8777 genome.wustl.edu 37 9 13158020 13158020 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003829.3 -1 validated p.R1150M 1.000 327 0% 97 33% 9 44.4% probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_PDZ domain-like NFIB 4781 genome.wustl.edu 37 9 14155846 14155846 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005596.2 -1 validated p.S221 1.000 249 0% 34 35.3% 62 50% - - - HMMPfam_CTF_NFI ZDHHC21 340481 genome.wustl.edu 37 9 14619032 14619032 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178566.4 -1 validated p.L244M 1.000 54 0% 29 44.8% 7 42.8% possibly_damaging(0.949) tolerated(0.06) deleterious(0.716) NULL FREM1 158326 genome.wustl.edu 37 9 14740203 14740203 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144966.5 -1 reviewed p.S2095F 0.641 81 0% 32 53.1% 34 44.1% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like FREM1 158326 genome.wustl.edu 37 9 14784540 14784540 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144966.5 -1 reviewed p.D1424Y 1.000 120 0% 61 32.8% 14 57.1% probably_damaging(0.976) tolerated(0.09) deleterious(0.714) NULL FREM1 158326 genome.wustl.edu 37 9 14859343 14859343 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144966.5 -1 reviewed p.N157H 1.000 74 0% 52 42.3% 3 33.3% possibly_damaging(0.611) tolerated(0.12) deleterious(0.472) NULL PSIP1 11168 genome.wustl.edu 37 9 15466784 15466784 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128217.1 -1 validated p.E498D 0.995 671 0% 327 45.3% 60 51.6% benign(0.388) tolerated(0.16) neutral(0.183) NULL C9orf93 203238 genome.wustl.edu 37 9 15721784 15721784 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173550.2 +1 predicted p.D446Y 1.000 151 0% 44 40.9% 3 33.3% possibly_damaging(0.933) deleterious(0.01) deleterious(0.784) NULL C9orf93 203238 genome.wustl.edu 37 9 15745621 15745621 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173550.2 +1 predicted p.G888D 0.992 283 0% 93 32.3% 2 50% benign(0.001) tolerated(0.16) neutral(0.059) NULL C9orf93 203238 genome.wustl.edu 37 9 15777691 15777691 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173550.2 +1 predicted p.C922Y 0.007 136 0% 81 44.4% 1 0% benign(0) deleterious(0.03) neutral(0.364) NULL C9orf93 203238 genome.wustl.edu 37 9 15920350 15920350 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173550.2 +1 predicted p.R1228Q 1.000 182 0% 34 52.9% 5 40% benign(0.142) deleterious(0.02) neutral(0.395) NULL BNC2 54796 genome.wustl.edu 37 9 16419445 16419445 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017637.5 -1 validated p.G948R 1.000 41 0% 36 30.6% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL CNTLN 54875 genome.wustl.edu 37 9 17330716 17330716 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017738.2 +1 validated p.K476N 1.000 189 0% 79 39.2% 1 100% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) NULL CNTLN 54875 genome.wustl.edu 37 9 17340946 17340946 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017738.2 +1 validated p.M589T 0.999 168 0% 51 58.8% 5 0% benign(0.062) tolerated(0.89) neutral(0.004) NULL CNTLN 54875 genome.wustl.edu 37 9 17395048 17395048 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017738.2 +1 validated p.E866K 1.000 62 0% 34 41.2% 1 100% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL SH3GL2 6456 genome.wustl.edu 37 9 17795629 17795629 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003026.2 +1 validated p.I316T 1.000 174 0% 63 36.5% 2 0% possibly_damaging(0.732) deleterious(0.04) deleterious(0.617) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ADAMTSL1 92949 genome.wustl.edu 37 9 18826350 18826350 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040272.4 +1 validated p.E1335K 0.994 29 0% 18 44.4% 2 50% benign(0.059) tolerated(0.61) neutral(0.008) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ADAMTSL1 92949 genome.wustl.edu 37 9 18887852 18887852 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040272.4 +1 validated p.V1425L 0.023 43 0% 33 48.5% 5 0% benign(0.009) tolerated(0.3) neutral(0.029) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HAUS6 54801 genome.wustl.edu 37 9 19058868 19058868 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017645.3 -1 provisional p.E633* 0.077 363 0% 140 47.9% 9 66.6% - - - NULL HAUS6 54801 genome.wustl.edu 37 9 19058902 19058902 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017645.3 -1 provisional p.L621 0.927 398 0% 146 11.6% 9 0% - - - NULL PLIN2 123 genome.wustl.edu 37 9 19121074 19121074 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122.2 -1 reviewed p.T133 0.001 73 0% 63 41.3% 36 16.6% - - - HMMPfam_Perilipin DENND4C 55667 genome.wustl.edu 37 9 19300318 19300318 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017925.4 +1 provisional p.A198S 1.000 272 0% 132 40.9% 3 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_DENN,HMMSmart_SM00799 DENND4C 55667 genome.wustl.edu 37 9 19346106 19346106 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017925.4 +1 provisional p.S828 0.963 268 0.4% 110 51.8% 5 40% - - - NULL ACER2 340485 genome.wustl.edu 37 9 19423912 19423912 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010887.2 +1 validated p.R54H 1.000 525 0.2% 277 45.1% 1 0% probably_damaging(1) tolerated(0.41) deleterious(0.515) HMMPfam_aPHC ACER2 340485 genome.wustl.edu 37 9 19446241 19446241 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380376 +1 known p.K139T 0.000 42 0% 34 47.1% 0 - unknown(0) - - HMMPfam_aPHC SLC24A2 25769 genome.wustl.edu 37 9 19516325 19516325 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020344.1 -1 provisional p.F604L 1.000 52 0% 26 50% 0 - benign(0.338) tolerated(0.72) neutral(0.108) HMMPfam_Na_Ca_ex SLC24A2 25769 genome.wustl.edu 37 9 19597244 19597244 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020344.1 -1 provisional p.D371G 1.000 736 0% 186 40.3% 0 - benign(0.158) tolerated(0.38) neutral(0.032) NULL MLLT3 4300 genome.wustl.edu 37 9 20413791 20413791 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004529.2 -1 validated p.T351 0.000 311 0% 159 43.4% 19 57.8% - - - NULL KIAA1797 54914 genome.wustl.edu 37 9 20982430 20982430 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017794.3 +1 validated p.I1571 0.094 203 0% 86 53.5% 24 50% - - - NULL IFNB1 3456 genome.wustl.edu 37 9 21077444 21077444 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002176.2 -1 validated p.H142P 0.000 289 0.3% 71 47.9% 0 - benign(0.004) tolerated(0.21) neutral(0.044) HMMPfam_Interferon,HMMSmart_SM00076,superfamily_4-helical cytokines IFNA4 3441 genome.wustl.edu 37 9 21186982 21186982 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021068.2 -1 validated p.K183N 0.000 554 0% 187 38.5% 0 - benign(0.002) tolerated(0.06) neutral(0.323) HMMPfam_Interferon,superfamily_4_helix_cytokine IFNA17 3451 genome.wustl.edu 37 9 21228153 21228153 + Nonsense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021268.2 -1 validated p.L7* 0.002 106 0% 67 44.8% 0 - - - - HMMPfam_Interferon IFNA14 3448 genome.wustl.edu 37 9 21239676 21239676 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002172.2 -1 validated p.T87A 0.239 171 0% 82 37.8% 0 - possibly_damaging(0.74) tolerated(0.06) deleterious(0.594) HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine KLHL9 55958 genome.wustl.edu 37 9 21334591 21334591 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018847.2 -1 validated p.L90 0.499 98 0% 57 33.3% 14 35.7% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB IFNA8 3445 genome.wustl.edu 37 9 21409312 21409312 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002170.3 +1 validated p.R46I 0.601 127 0% 55 50.9% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_Interferon,superfamily_4-helical cytokines TEK 7010 genome.wustl.edu 37 9 27190581 27190581 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000459.3 +1 reviewed p.A461V 1.000 240 0% 66 43.9% 0 - benign(0) tolerated(0.36) neutral(0.020) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TEK 7010 genome.wustl.edu 37 9 27228245 27228245 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000459.3 +1 reviewed p.E1081A 1.000 218 0% 72 48.6% 2 0% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like MOB3B 79817 genome.wustl.edu 37 9 27359139 27359139 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024761.3 -1 reviewed p.R172W 1.000 102 0% 69 42% 9 44.4% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Mob1_phocein,superfamily_Mob1_phocein IFNK 56832 genome.wustl.edu 37 9 27524410 27524410 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020124.2 +1 reviewed p.L26I 0.000 201 0% 129 13.2% 0 - benign(0.05) tolerated(0.49) neutral(0.014) HMMPfam_Interferon LINGO2 158038 genome.wustl.edu 37 9 27949484 27949484 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152570.1 -1 provisional p.F396V 1.000 103 0% 47 44.7% 0 - possibly_damaging(0.935) tolerated(0.06) deleterious(0.703) HMMSmart_LRRCT,superfamily_SSF52058 ACO1 48 genome.wustl.edu 37 9 32448914 32448914 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002197.2 +1 reviewed p.A797 0.002 51 0% 53 37.7% 38 34.2% - - - HMMPfam_Aconitase_C,superfamily_Aconitase TOPORS 10210 genome.wustl.edu 37 9 32543323 32543323 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005802.3 -1 reviewed p.E400D 0.004 74 0% 62 58.1% 10 40% unknown(0) tolerated(0.31) - NULL B4GALT1 2683 genome.wustl.edu 37 9 33135281 33135281 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001497.3 -1 reviewed p.R185H 1.000 33 0% 28 39.3% 121 37.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases CHMP5 51510 genome.wustl.edu 37 9 33271171 33271171 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016410.4 +1 validated p.V113L 1.000 521 0% 219 41.6% 108 49% benign(0) tolerated(0.41) neutral(0.015) HMMPfam_Snf7 NFX1 4799 genome.wustl.edu 37 9 33318792 33318792 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002504.3 +1 reviewed p.G551V 1.000 247 0% 142 44.4% 19 73.6% benign(0.389) tolerated(0.22) neutral(0.167) NULL NFX1 4799 genome.wustl.edu 37 9 33364060 33364060 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002504.3 +1 reviewed p.R976C 0.993 445 0% 201 38.3% 3 33.3% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL AQP7 364 genome.wustl.edu 37 9 33385866 33385866 + Splice_Site SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001170.1 -1 reviewed e6-2 0.812 29 3.4% 35 20% 0 - - - - - AQP7 364 genome.wustl.edu 37 9 33387084 33387084 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001170.1 -1 reviewed p.G51S 1.000 47 0% 37 29.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MIP,superfamily_MIP AQP3 360 genome.wustl.edu 37 9 33442346 33442346 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004925.3 -1 reviewed p.G221 0.874 16 0% 21 42.9% 30 30% - - - HMMPfam_MIP,superfamily_Aquaporin-like ANKRD18B 441459 genome.wustl.edu 37 9 33524338 33524339 + Frame_Shift_Ins INS - - ATCGCGGGTTTGGGGGTGG novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001718334.2 +1 model p.V125fs 0.562:0.557 - - - - - - - - - superfamily_Ankyrin repeat TRBV25OR9-2 6960 genome.wustl.edu 37 9 33662375 33662375 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000438417 +1 known p.G17 0.002 59 0% 28 57.1% 0 - - - - NULL UBAP2 55833 genome.wustl.edu 37 9 33922583 33922583 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018449.2 -1 reviewed p.Q1093 1.000 62 0% 47 38.3% 48 37.5% - - - NULL UBAP1 51271 genome.wustl.edu 37 9 34241758 34241758 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016525.4 +1 reviewed p.K245N 1.000 115 0% 59 35.6% 50 46% probably_damaging(0.989) tolerated(0.12) deleterious(0.700) NULL NUDT2 318 genome.wustl.edu 37 9 34343136 34343136 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001161.3 +1 reviewed p.G48* 1.000 71 0% 33 42.4% 35 11.4% - - - HMMPfam_NUDIX,superfamily_NUDIX_hydrolase,PatternScan_NUDIX KIAA1161 57462 genome.wustl.edu 37 9 34370895 34370895 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000297625 -1 known p.R649C 1.000 10 0.000 6 1.000 5 60% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Glyco_hydro_31 DNAI1 27019 genome.wustl.edu 37 9 34491513 34491513 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012144.2 +1 reviewed p.E214 0.995 264 0% 178 44.9% 0 - - - - superfamily_WD40_like RPP25L 138716 genome.wustl.edu 37 9 34611209 34611209 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148178.1 -1 validated p.R29W 1.000 20 0% 19 52.6% 37 43.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alba,superfamily_SSF82704 IL11RA 3590 genome.wustl.edu 37 9 34660928 34660928 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142784.1 +1 reviewed p.R416H 0.807 61 0% 54 40.7% 4 50% benign(0.389) tolerated(0.12) neutral(0.385) NULL ENSG00000232067 0 genome.wustl.edu 37 9 34835454 34835454 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000455647 -1 known p.A12D 0.000 53 0% 40 42.5% 0 - probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL FAM205B 389715 genome.wustl.edu 37 9 34835916 34835916 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000399773 -1 known p.L127 0.000 31 0% 19 52.6% 0 - - - - NULL KIAA1045 23349 genome.wustl.edu 37 9 34971304 34971304 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015297.1 +1 validated p.V3 1.000 49 0% 41 41.5% 0 - - - - NULL KIAA1045 23349 genome.wustl.edu 37 9 34976684 34976684 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015297.1 +1 validated p.P266S 1.000 13 0% 11 72.7% 0 - benign(0) tolerated(0.62) neutral(0.004) NULL KIAA1045 23349 genome.wustl.edu 37 9 34976704 34976704 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015297.1 +1 validated p.E272D 1.000 13 0% 18 22.2% 0 - probably_damaging(0.975) tolerated(0.1) deleterious(0.704) NULL DNAJB5 25822 genome.wustl.edu 37 9 34996375 34996375 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135005.1 +1 validated p.D181N 1.000 29 0% 42 52.4% 6 16.6% possibly_damaging(0.943) tolerated(0.3) neutral(0.416) superfamily_Chaperone J-domain DNAJB5 25822 genome.wustl.edu 37 9 34996383 34996383 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135005.1 +1 validated p.F183L 1.000 32 0% 47 40.4% 4 25% benign(0.17) deleterious(0.05) neutral(0.361) superfamily_Chaperone J-domain LOC730110 730110 genome.wustl.edu 37 9 35148772 35148772 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342891.1 -1 model p.S137L 0.000 162 0% 95 61.1% 0 - - - - NULL LOC730110 730110 genome.wustl.edu 37 9 35149104 35149104 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342891.1 -1 model p.Q26H 0.820 452 0% 252 38.1% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) UNC13B 10497 genome.wustl.edu 37 9 35376074 35376074 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006377.3 +1 reviewed p.S473L 1.000 96 0% 66 45.5% 14 35.7% probably_damaging(0.975) deleterious(0) deleterious(0.861) superfamily_SSF57889 UNC13B 10497 genome.wustl.edu 37 9 35376078 35376078 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006377.3 +1 reviewed p.C474 0.935 92 0% 62 45.2% 14 57.1% - - - superfamily_SSF57889 RUSC2 9853 genome.wustl.edu 37 9 35548019 35548019 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135999.1 +1 validated p.R501C 1.000 11 0% 18 27.8% 9 44.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RUSC2 9853 genome.wustl.edu 37 9 35556320 35556320 + Missense_Mutation SNP C C T rs188737758 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135999.1 +1 validated p.P953L 1.000 84 0% 68 55.9% 8 37.5% possibly_damaging(0.613) deleterious(0.01) deleterious(0.618) NULL CA9 768 genome.wustl.edu 37 9 35679942 35679942 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001216.2 +1 reviewed p.I386N 0.007 53 0% 44 50% 45 48.8% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd TLN1 7094 genome.wustl.edu 37 9 35699446 35699446 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006289.3 -1 reviewed p.P2261S 1.000 103 0% 68 38.2% 184 33.1% benign(0.013) tolerated(0.51) neutral(0.009) NULL TLN1 7094 genome.wustl.edu 37 9 35704061 35704061 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006289.3 -1 reviewed p.A2053V 0.997 12 0% 22 50% 164 33.5% benign(0.062) tolerated(0.14) neutral(0.254) NULL TLN1 7094 genome.wustl.edu 37 9 35714587 35714587 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006289.3 -1 reviewed p.S990N 1.000 22 0% 22 40.9% 56 35.7% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_SSF109885 GBA2 57704 genome.wustl.edu 37 9 35738355 35738355 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020944.2 -1 reviewed p.L691M 0.999 53 0% 57 40.4% 51 47% possibly_damaging(0.555) deleterious(0) deleterious(0.634) HMMPfam_DUF608,superfamily_Six-hairpin glycosidases GBA2 57704 genome.wustl.edu 37 9 35741812 35741812 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020944.2 -1 reviewed p.R215C 0.992 55 0% 40 47.5% 41 39% benign(0.004) deleterious(0.05) neutral(0.345) NULL RGP1 9827 genome.wustl.edu 37 9 35751737 35751737 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080496.1 +1 provisional p.V290I 0.986 97 0% 59 44.1% 14 28.5% benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_Rgp1 NPR2 4882 genome.wustl.edu 37 9 35807052 35807052 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003995.3 +1 reviewed p.T851N 1.000 63 0% 46 41.3% 0 - benign(0.277) tolerated(0.31) neutral(0.056) HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain CCIN 881 genome.wustl.edu 37 9 36170569 36170569 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005893.2 +1 reviewed p.K357T 1.000 21 0% 30 20% 0 - probably_damaging(0.995) tolerated(0.15) deleterious(0.699) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain GNE 10020 genome.wustl.edu 37 9 36233940 36233940 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128227.1 -1 reviewed p.T351I 1.000 94 0% 52 48.1% 9 88.8% possibly_damaging(0.718) deleterious(0.04) deleterious(0.609) HMMPfam_Epimerase_2,superfamily_SSF53756 RNF38 152006 genome.wustl.edu 37 9 36342359 36342359 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022781.4 -1 reviewed p.H483R 1.000 135 0% 67 38.8% 33 48.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box MELK 9833 genome.wustl.edu 37 9 36594671 36594671 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014791.2 +1 provisional p.R103H 1.000 183 0% 131 38.9% 8 50% possibly_damaging(0.792) deleterious(0) deleterious(0.742) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GRHPR 9380 genome.wustl.edu 37 9 37424944 37424944 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012203.1 +1 reviewed p.H62 0.000 6 0.000 13 0.462 97 39.1% - - - HMMPfam_2-Hacid_dh,superfamily_Formate/glycerate dehydrogenase catalytic domain-like GRHPR 9380 genome.wustl.edu 37 9 37430790 37430790 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000377824 +1 known p.S294L 0.000 6 0.000 9 0.556 1 0% unknown(0) deleterious(0) - NULL FBXO10 26267 genome.wustl.edu 37 9 37537126 37537126 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012166.2 -1 validated p.R467Q 1.000 13 0% 11 36.4% 2 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like FRMPD1 22844 genome.wustl.edu 37 9 37740134 37740134 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014907.2 +1 validated p.E537K 0.928 10 0.000 7 0.857 0 - possibly_damaging(0.946) tolerated(0.08) deleterious(0.690) NULL FRMPD1 22844 genome.wustl.edu 37 9 37745093 37745093 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014907.2 +1 validated p.P1022S 0.194 32 0% 28 39.3% 0 - possibly_damaging(0.647) deleterious(0) deleterious(0.671) NULL FRMPD1 22844 genome.wustl.edu 37 9 37745192 37745192 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014907.2 +1 validated p.G1055* 0.001 41 0% 38 42.1% 0 - - - - NULL FRMPD1 22844 genome.wustl.edu 37 9 37746003 37746003 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014907.2 +1 validated p.V1325A 0.000 50 0% 56 44.6% 0 - benign(0.001) tolerated(0.67) neutral(0.003) NULL FRMPD1 22844 genome.wustl.edu 37 9 37746533 37746533 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014907.2 +1 validated p.G1502S 0.982 11 0% 14 64.3% 0 - probably_damaging(0.999) tolerated(0.55) deleterious(0.497) NULL ALDH1B1 219 genome.wustl.edu 37 9 38396001 38396001 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000692.3 +1 reviewed p.A86T 1.000 14 0% 21 33.3% 17 35.2% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_Aldedh,superfamily_ALDH-like CNTNAP3 79937 genome.wustl.edu 37 9 39178297 39178297 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033655.3 -1 reviewed p.P200L 0.001 286 0% 78 44.9% 0 - benign(0) tolerated(0.39) neutral(0.016) superfamily_Concanavalin A-like lectins/glucanases LOC642406 642406 genome.wustl.edu 37 9 40503140 40503140 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344253.1 -1 model p.D269G 1.000 55 0% 25 32% 1 0% - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 LOC642406 642406 genome.wustl.edu 37 9 40610072 40610072 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344253.1 -1 model p.G55S 0.955 61 0% 21 38.1% 0 - - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like FAM75A6 389730 genome.wustl.edu 37 9 43625258 43625258 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145196.1 -1 predicted p.G1143 0.000 1433 0% 949 30.2% 0 - - - - NULL LOC642236 642236 genome.wustl.edu 37 9 68433512 68433512 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_041085.2 -1 model NULL 1.000 653 0% 220 10.9% 0 - - - - - ANKRD20A4 728747 genome.wustl.edu 37 9 69423672 69423672 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098805.1 +1 provisional p.E656 0.526 637 0% 169 19.5% 0 - - - - NULL CBWD3 445571 genome.wustl.edu 37 9 70913958 70913958 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201453.2 +1 validated p.P344S 0.994 492 0% 232 21.6% 1 100% benign(0) tolerated(0.45) neutral(0.012) HMMPfam_CobW_C,superfamily_Cbl_biosynth_CobW-like_C TJP2 9414 genome.wustl.edu 37 9 71840306 71840306 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004817.3 +1 reviewed p.G347* 1.000 99 0% 48 52.1% 7 14.2% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like TJP2 9414 genome.wustl.edu 37 9 71853640 71853640 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004817.3 +1 reviewed p.D764N 1.000 144 0% 65 33.8% 16 6.2% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases TJP2 9414 genome.wustl.edu 37 9 71855006 71855006 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004817.3 +1 reviewed p.R837* 0.994 184 0% 82 35.4% 13 0% - - - HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM189A2 9413 genome.wustl.edu 37 9 71992551 71992551 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127608.1 +1 validated p.E129* 1.000 75 0% 55 43.6% 2 0% - - - NULL FAM189A2 9413 genome.wustl.edu 37 9 71998636 71998636 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127608.1 +1 validated p.P195 0.990 100 0% 76 50% 3 100% - - - NULL FAM189A2 9413 genome.wustl.edu 37 9 71998675 71998675 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127608.1 +1 validated p.Q208H 1.000 81 0% 71 33.8% 5 0% probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL APBA1 320 genome.wustl.edu 37 9 72131670 72131670 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001163.3 -1 reviewed p.H153N 1.000 7 0.000 7 0.714 5 40% benign(0.176) deleterious(0.01) neutral(0.422) NULL MAMDC2 256691 genome.wustl.edu 37 9 72727941 72727941 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153267.4 +1 validated p.G179D 1.000 209 0% 76 47.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MAM,HMMSmart_SM00137 MAMDC2 256691 genome.wustl.edu 37 9 72785470 72785470 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153267.4 +1 validated p.R525Q 1.000 120 0% 40 32.5% 0 - benign(0.389) tolerated(0.55) neutral(0.132) HMMPfam_MAM,HMMSmart_SM00137 SMC5 23137 genome.wustl.edu 37 9 72893538 72893538 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015110.3 +1 validated p.L225 0.595 276 0% 95 42.1% 4 25% - - - HMMPfam_SMC_N,superfamily_SSF52540 SMC5 23137 genome.wustl.edu 37 9 72929661 72929661 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015110.3 +1 validated p.R528C 1.000 170 0% 50 42% 7 14.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_SMC_N,superfamily_SSF52540 SMC5 23137 genome.wustl.edu 37 9 72962049 72962049 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015110.3 +1 validated p.A879D 1.000 234 0% 104 49% 8 37.5% possibly_damaging(0.938) deleterious(0.01) deleterious(0.789) HMMPfam_SMC_N,superfamily_SSF52540 TRPM3 80036 genome.wustl.edu 37 9 73151070 73151070 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000396280 -1 known p.G1490* 1.000 115 0% 89 13.5% 0 - benign(0) tolerated(0.44) neutral(0.013) NULL TRPM3 80036 genome.wustl.edu 37 9 73151501 73151501 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007471.2 -1 reviewed p.R1498C 1.000 238 0% 174 35.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPM3 80036 genome.wustl.edu 37 9 73152164 73152164 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007471.2 -1 reviewed p.E1277K 1.000 32 0% 18 38.9% 0 - possibly_damaging(0.49) tolerated(0.14) neutral(0.412) NULL TRPM3 80036 genome.wustl.edu 37 9 73296482 73296482 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007471.2 -1 reviewed p.R429W 1.000 326 0% 118 48.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL FAM108B1 51104 genome.wustl.edu 37 9 74489728 74489728 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016014.2 -1 validated p.A90V 1.000 287 0% 96 37.5% 13 46.1% possibly_damaging(0.933) deleterious(0.03) deleterious(0.744) superfamily_SSF53474 C9orf57 138240 genome.wustl.edu 37 9 74674162 74674162 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128618.1 -1 validated p.G51D 0.404 175 0% 80 47.5% 0 - benign(0.043) - - NULL TRPM6 140803 genome.wustl.edu 37 9 77377567 77377567 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017662.4 -1 reviewed p.K1340N 0.441 249 0% 92 45.7% 0 - possibly_damaging(0.818) deleterious(0.01) deleterious(0.715) NULL TRPM6 140803 genome.wustl.edu 37 9 77431608 77431608 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017662.4 -1 reviewed p.L429I 0.992 254 0% 90 25.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL C9orf95 54981 genome.wustl.edu 37 9 77676186 77676186 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_023352.1 -1 validated NULL 0.007 40 0% 11 45.5% 16 37.5% - - - - PRUNE2 158471 genome.wustl.edu 37 9 79267419 79267419 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015225.2 -1 validated p.S2846Y 1.000 192 0% 79 41.8% 0 - benign(0.009) tolerated(0.06) neutral(0.323) NULL PRUNE2 158471 genome.wustl.edu 37 9 79322132 79322132 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000426088 -1 known p.F1008V 0.013 81 0% 42 42.9% 0 - - - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79322516 79322516 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000426088 -1 known p.L880I 0.012 186 0% 97 50.5% 2 50% - - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79323036 79323036 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015225.2 -1 validated p.S1385Y 0.021 99 0% 50 58% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PRUNE2 158471 genome.wustl.edu 37 9 79323313 79323313 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015225.2 -1 validated p.L1293M 0.000 100 0% 47 44.7% 1 0% possibly_damaging(0.7) tolerated(0.16) neutral(0.311) NULL PRUNE2 158471 genome.wustl.edu 37 9 79326192 79326192 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015225.2 -1 validated p.Y333C 1.000 48 0% 18 44.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS13A 23230 genome.wustl.edu 37 9 79820294 79820294 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033305.2 +1 reviewed p.E85* 1.000 313 0.3% 112 42.9% 0 - - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79890495 79890495 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033305.2 +1 reviewed p.R865Q 0.000 320 0.3% 125 44% 0 - benign(0.014) tolerated(0.36) neutral(0.021) NULL VPS13A 23230 genome.wustl.edu 37 9 79897116 79897116 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033305.2 +1 reviewed p.P1015L 0.989 260 0% 87 46% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL VPS13A 23230 genome.wustl.edu 37 9 79985833 79985833 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033305.2 +1 reviewed p.V2979I 1.000 530 0% 203 14.8% 2 0% probably_damaging(0.998) tolerated(0.33) deleterious(0.498) NULL CEP78 84131 genome.wustl.edu 37 9 80879182 80879182 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098802.1 +1 validated p.E526D 1.000 307 0% 128 44.5% 14 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TLE1 7088 genome.wustl.edu 37 9 84199392 84199392 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005077.3 -1 provisional p.R726W 1.000 108 0% 82 42.7% 166 48.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TLE1 7088 genome.wustl.edu 37 9 84230986 84230986 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005077.3 -1 provisional p.R277C 1.000 96 0% 62 45.2% 87 48.2% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL FAM75D1 389763 genome.wustl.edu 37 9 84605913 84605913 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001670.2 +1 validated p.P176 0.006 283 0% 206 42.2% 0 - - - - NULL FAM75D1 389763 genome.wustl.edu 37 9 84607436 84607436 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001670.2 +1 validated p.R684M 0.000 184 0% 102 43.1% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL FAM75D1 389763 genome.wustl.edu 37 9 84607959 84607959 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001670.2 +1 validated p.K858 0.000 253 0% 159 36.5% 0 - - - - NULL FAM75D1 389763 genome.wustl.edu 37 9 84609982 84609982 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001670.2 +1 validated p.R1533S 0.000 59 0% 31 16.1% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL GKAP1 80318 genome.wustl.edu 37 9 86357505 86357505 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025211.3 -1 reviewed p.K305N 1.000 297 0% 94 42.6% 12 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIF27 55582 genome.wustl.edu 37 9 86498773 86498773 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017576.1 -1 provisional p.Q800H 1.000 425 0% 180 15% 6 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL HNRNPK 3190 genome.wustl.edu 37 9 86592656 86592656 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002140.3 -1 reviewed p.R35K 1.000 261 0% 113 33.6% 408 48.2% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_ROKNT,superfamily_Eukaryotic type KH-domain (KH-domain type I) SLC28A3 64078 genome.wustl.edu 37 9 86894223 86894223 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022127.1 -1 provisional p.N636D 0.009 231 0% 95 36.8% 1 0% benign(0.004) tolerated(0.1) neutral(0.286) NULL SLC28A3 64078 genome.wustl.edu 37 9 86914552 86914552 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022127.1 -1 provisional p.G205S 1.000 166 0% 62 48.4% 0 - benign(0.024) tolerated(0.53) neutral(0.009) HMMPfam_Nucleos_tra2_N NTRK2 4915 genome.wustl.edu 37 9 87317142 87317142 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006180.3 +1 reviewed p.R94I 0.991 164 0% 85 43.5% 0 - possibly_damaging(0.697) tolerated(0.18) neutral(0.306) superfamily_SSF52058 NTRK2 4915 genome.wustl.edu 37 9 87482189 87482189 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006180.3 +1 reviewed p.D492 1.000 50 0% 37 10.8% 1 0% - - - NULL AGTPBP1 23287 genome.wustl.edu 37 9 88203344 88203344 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015239.2 -1 validated p.T884 0.445 266 0% 90 44.4% 11 9% - - - HMMPfam_Peptidase_M14,superfamily_SSF53187 AGTPBP1 23287 genome.wustl.edu 37 9 88204597 88204597 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015239.2 -1 validated e19-1 1.000 206 0% 73 34.2% 0 - - - - - AGTPBP1 23287 genome.wustl.edu 37 9 88233950 88233950 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015239.2 -1 validated p.A721 0.854 368 0% 118 35.6% 3 33.3% - - - NULL NAA35 60560 genome.wustl.edu 37 9 88573409 88573409 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024635.3 +1 validated p.S61P 1.000 448 0% 247 45.3% 5 60% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Mak10 NAA35 60560 genome.wustl.edu 37 9 88624800 88624800 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024635.3 +1 validated p.H415R 1.000 347 0% 178 46.6% 12 58.3% possibly_damaging(0.7) tolerated(0.38) neutral(0.269) NULL NAA35 60560 genome.wustl.edu 37 9 88633177 88633177 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024635.3 +1 validated p.V594A 0.999 155 0% 80 45% 24 54.1% benign(0.009) tolerated(1) neutral(0.001) NULL DAPK1 1612 genome.wustl.edu 37 9 90321475 90321475 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004938.2 +1 reviewed p.G1163 0.000 9 0.000 17 0.471 37 35.1% - - - NULL C9orf79 286234 genome.wustl.edu 37 9 90499883 90499883 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178828.4 +1 validated p.P161S 0.000 8 0.000 13 0.385 0 - benign(0.377) tolerated(0.1) neutral(0.407) NULL FAM75C1 441452 genome.wustl.edu 37 9 90535672 90535672 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145124.1 +1 validated p.G284S 0.000 106 0% 111 45.9% 0 - - - - NULL FAM75C1 441452 genome.wustl.edu 37 9 90537820 90537820 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145124.1 +1 validated p.V1000I 0.001 691 0.1% 503 53.3% 0 - - - - NULL LOC286238 286238 genome.wustl.edu 37 9 91266879 91266879 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100111.1 -1 validated p.R22G 0.000 314 0% 159 43.4% 0 - - - - NULL GADD45G 10912 genome.wustl.edu 37 9 92220618 92220618 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006705.3 +1 reviewed p.A64 0.087 25 0% 29 44.8% 15 20% - - - HMMPfam_Ribosomal_L7Ae NFIL3 4783 genome.wustl.edu 37 9 94171921 94171921 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005384.2 -1 validated p.E366K 0.989 84 0% 71 35.2% 40 50% benign(0.4) deleterious(0.02) deleterious(0.512) HMMPfam_Vert_IL3-reg_TF ROR2 4920 genome.wustl.edu 37 9 94486807 94486807 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004560.2 -1 reviewed p.R657C 1.000 14 0% 16 50% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like IARS 3376 genome.wustl.edu 37 9 95022445 95022445 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002161.4 -1 reviewed p.A620V 1.000 312 0% 147 21.8% 54 14.8% possibly_damaging(0.561) deleterious(0.01) deleterious(0.597) HMMPfam_tRNA-synt_1,superfamily_SSF52374 BICD2 23299 genome.wustl.edu 37 9 95481795 95481795 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003800.1 -1 reviewed p.G378C 1.000 8 0.000 16 0.375 23 39.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_BicD BICD2 23299 genome.wustl.edu 37 9 95482773 95482773 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003800.1 -1 reviewed p.E291K 0.997 63 1.6% 55 41.8% 30 40% probably_damaging(0.996) tolerated(0.82) neutral(0.462) HMMPfam_BicD BICD2 23299 genome.wustl.edu 37 9 95482841 95482841 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003800.1 -1 reviewed p.N268T 0.995 111 0% 97 45.4% 34 61.7% benign(0.291) tolerated(0.43) neutral(0.103) HMMPfam_BicD ZNF484 83744 genome.wustl.edu 37 9 95608679 95608679 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031486.1 -1 provisional p.I797S 0.998 545 0% 259 43.6% 3 66.6% possibly_damaging(0.722) tolerated(0.15) deleterious(0.503) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FGD3 89846 genome.wustl.edu 37 9 95778046 95778046 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083536.1 +1 validated p.P404S 1.000 51 0% 52 53.8% 5 60% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SUSD3 203328 genome.wustl.edu 37 9 95841808 95841808 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145006.2 +1 provisional p.A161S 0.000 11 0% 15 46.7% 5 20% possibly_damaging(0.482) tolerated(0.44) neutral(0.173) NULL WNK2 65268 genome.wustl.edu 37 9 96055443 96055443 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006648.3 +1 reviewed p.S1899N 0.989 18 0% 13 46.2% 24 62.5% benign(0.23) deleterious(0.05) neutral(0.368) NULL FAM120A 23196 genome.wustl.edu 37 9 96320201 96320201 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014612.3 +1 validated p.P859 0.062 15 0% 13 38.5% 151 43.7% - - - NULL FAM120A 23196 genome.wustl.edu 37 9 96326645 96326645 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014612.3 +1 validated p.P1060 0.098 21 0% 15 53.3% 106 50.9% - - - NULL PHF2 5253 genome.wustl.edu 37 9 96411441 96411441 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005392.3 +1 reviewed p.S183 1.000 28 0% 21 38.1% 24 29.1% - - - superfamily_SSF51197 PHF2 5253 genome.wustl.edu 37 9 96428011 96428011 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005392.3 +1 reviewed p.A661T 1.000 29 0% 25 40% 19 31.5% benign(0.001) tolerated(0.68) neutral(0.002) NULL PTPDC1 138639 genome.wustl.edu 37 9 96847596 96847596 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152422.3 +1 reviewed p.P101L 1.000 102 0% 77 48.1% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM22F 54754 genome.wustl.edu 37 9 97081004 97081004 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017561.1 -1 validated p.P672S 0.000 79 0% 90 44.4% 0 - probably_damaging(0.996) tolerated(0.75) neutral(0.463) NULL FAM22F 54754 genome.wustl.edu 37 9 97084540 97084540 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017561.1 -1 validated p.R262Q 0.068 51 0% 54 51.9% 0 - benign(0.146) tolerated(1) neutral(0.013) NULL HIATL1 84641 genome.wustl.edu 37 9 97203377 97203377 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032558.2 +1 validated p.G169E 1.000 184 0% 109 43.1% 37 56.7% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter HIATL1 84641 genome.wustl.edu 37 9 97209146 97209146 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032558.2 +1 validated p.I257 1.000 460 0% 221 18.1% 43 13.9% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter FBP2 8789 genome.wustl.edu 37 9 97329624 97329624 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003837.2 -1 reviewed p.S211 1.000 261 0% 167 19.8% 1 0% - - - HMMPfam_FBPase,superfamily_SSF56655 PTCH1 5727 genome.wustl.edu 37 9 98215774 98215774 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000264.3 -1 reviewed p.F1145 1.000 16 0% 20 35% 9 66.6% - - - HMMPfam_Patched,superfamily_SSF82866 PTCH1 5727 genome.wustl.edu 37 9 98220525 98220525 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000264.3 -1 reviewed p.G980C 1.000 23 0% 22 63.6% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Patched PTCH1 5727 genome.wustl.edu 37 9 98232138 98232138 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000264.3 -1 reviewed p.R602* 0.998 142 0% 82 48.8% 7 28.5% - - - HMMPfam_Patched C9orf102 375748 genome.wustl.edu 37 9 98678055 98678065 + Frame_Shift_Del DEL CCTCACTGGAA CCTCACTGGAA - novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 CCTCACTGGAA CCTCACTGGAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010895.2 +1 validated p.L310fs 0.992:1.000:1.000:1.000:1.000:1.000:0.914:1.000:1.000:0.943:1.000 - - - - - - - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases C9orf102 375748 genome.wustl.edu 37 9 98678625 98678625 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010895.2 +1 validated p.A367V 1.000 45 0% 21 52.4% 3 100% possibly_damaging(0.692) tolerated(1) neutral(0.247) HMMPfam_SNF2_N HSD17B3 3293 genome.wustl.edu 37 9 99008845 99008845 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000197.1 -1 reviewed p.E173K 0.998 134 0% 84 46.4% 0 - benign(0.382) tolerated(0.05) neutral(0.467) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains SLC35D2 11046 genome.wustl.edu 37 9 99113454 99113454 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007001.2 -1 validated e6-1 1.000 188 0% 114 43% 0 - - - - - AAED1 195827 genome.wustl.edu 37 9 99404043 99404043 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000446045 -1 known p.V180A 1.000 155 0% 81 49.4% 17 58.8% - - - NULL FAM22G 441457 genome.wustl.edu 37 9 99694196 99694196 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001045477.2 +1 validated p.G70A 0.001 10 0% 13 38.5% 0 - benign(0.006) deleterious(0) neutral(0.445) NULL ZNF322P1 387328 genome.wustl.edu 37 9 99960875 99960875 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199005.1 -1 validated p.D307Y 0.067 360 0% 181 43.6% 7 0% benign(0.015) tolerated(0.52) neutral(0.009) HMMSmart_ZnF_C2H2,superfamily_SSF57667 C9orf174 100499483 genome.wustl.edu 37 9 100117252 100117252 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020893.1 +1 predicted p.R1091W 0.989 127 0% 71 50.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TDRD7 23424 genome.wustl.edu 37 9 100204091 100204091 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014290.2 +1 validated p.E263 1.000 192 0% 44 31.8% 1 100% - - - NULL C9orf156 51531 genome.wustl.edu 37 9 100678527 100678527 + Missense_Mutation SNP C C T rs149721127 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016481.3 -1 validated p.R57Q 0.998 190 0% 102 46.1% 2 50% probably_damaging(0.979) deleterious(0.04) deleterious(0.771) HMMPfam_UPF0066 HEMGN 55363 genome.wustl.edu 37 9 100692788 100692788 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018437.3 -1 validated p.L297I 0.008 860 0% 541 21.6% 0 - benign(0.004) tolerated(0.34) neutral(0.023) NULL HEMGN 55363 genome.wustl.edu 37 9 100693242 100693242 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018437.3 -1 validated p.E145D 0.001 309 0% 200 37.5% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL HEMGN 55363 genome.wustl.edu 37 9 100693500 100693500 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018437.3 -1 validated p.E59D 1.000 282 0% 161 37.9% 0 - possibly_damaging(0.478) tolerated(0.07) deleterious(0.477) NULL CORO2A 7464 genome.wustl.edu 37 9 100892140 100892140 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003389.3 -1 reviewed p.S301 0.875 51 0% 49 40.8% 16 68.7% - - - superfamily_WD40 repeat-like,HMMPfam_DUF1900 TBC1D2 55357 genome.wustl.edu 37 9 100963826 100963826 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018421.3 -1 validated p.A798T 1.000 12 0% 17 41.2% 15 53.3% possibly_damaging(0.692) tolerated(0.05) deleterious(0.593) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC ANKS6 203286 genome.wustl.edu 37 9 101507888 101507888 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173551.3 -1 provisional p.S822P 0.985 126 0% 76 17.1% 20 25% benign(0.169) tolerated(0.58) neutral(0.021) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain ANKS6 203286 genome.wustl.edu 37 9 101507925 101507925 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000444472 -1 known p.R279W 0.982 107 0% 73 41.1% 12 25% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain ANKS6 203286 genome.wustl.edu 37 9 101530498 101530498 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000444472 -1 known p.C138R 0.953 32 0% 27 55.6% 12 75% - - - NULL GALNT12 79695 genome.wustl.edu 37 9 101599406 101599406 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024642.3 +1 validated p.Y396 1.000 51 0% 37 43.2% 29 44.8% - - - superfamily_Nucleotide-diphospho-sugar transferases COL15A1 1306 genome.wustl.edu 37 9 101759229 101759229 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001855.3 +1 reviewed p.K273T 0.087 259 0% 167 38.9% 15 6.6% benign(0.037) tolerated(0.1) neutral(0.288) NULL COL15A1 1306 genome.wustl.edu 37 9 101829215 101829215 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001855.3 +1 reviewed p.F1235V 1.000 137 0% 65 33.8% 25 0% benign(0.105) - - HMMPfam_Endostatin,superfamily_C-type_lectin_fold TGFBR1 7046 genome.wustl.edu 37 9 101900146 101900146 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004612.2 +1 reviewed p.P194S 1.000 356 0% 105 17.1% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta_GS,HMMSmart_SM00467,superfamily_Protein kinase-like (PK-like) TGFBR1 7046 genome.wustl.edu 37 9 101904970 101904970 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004612.2 +1 reviewed p.I320V 1.000 118 0% 43 48.8% 10 40% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SEC61B 10952 genome.wustl.edu 37 9 101990216 101990216 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006808.2 +1 reviewed p.R46H 1.000 62 0% 47 31.9% 280 33.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL KRT8P11 347265 genome.wustl.edu 37 9 102067610 102067610 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000409686 +1 known p.A73T 0.988 17 0.000 8 0.625 0 - benign(0.177) tolerated(0.46) neutral(0.029) NULL INVS 27130 genome.wustl.edu 37 9 103054739 103054739 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014425.2 +1 reviewed p.R734W 0.035 27 0% 27 51.9% 3 100% probably_damaging(0.967) deleterious(0) deleterious(0.853) NULL INVS 27130 genome.wustl.edu 37 9 103055024 103055024 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014425.2 +1 reviewed p.R829C 0.002 59 1.7% 38 39.5% 5 40% possibly_damaging(0.848) deleterious(0) deleterious(0.770) NULL TEX10 54881 genome.wustl.edu 37 9 103091437 103091437 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017746.3 -1 validated p.R537I 0.142 306 0% 102 32.4% 11 9% benign(0.025) tolerated(0.05) neutral(0.346) NULL ZNF189 7743 genome.wustl.edu 37 9 104171355 104171355 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003452.2 +1 validated p.E435D 0.992 90 0% 32 46.9% 2 100% benign(0.005) deleterious(0) neutral(0.445) NULL ALDOB 229 genome.wustl.edu 37 9 104187223 104187223 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000035.3 -1 reviewed p.S301P 1.000 63 0% 26 50% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glycolytic,superfamily_Aldolase ALDOB 229 genome.wustl.edu 37 9 104189911 104189911 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000035.3 -1 reviewed p.L131 1.000 69 0% 31 51.6% 0 - - - - HMMPfam_Glycolytic,superfamily_Aldolase C9orf125 84302 genome.wustl.edu 37 9 104239353 104239353 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032342.1 -1 provisional p.A8S 1.000 26 0% 26 38.5% 0 - possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL RNF20 56254 genome.wustl.edu 37 9 104302835 104302835 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019592.5 +1 reviewed p.L121I 0.968 107 0% 72 43.1% 24 29.1% unknown(0) tolerated(0.4) - NULL CYLC2 1539 genome.wustl.edu 37 9 105767471 105767471 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001340.3 +1 reviewed p.K186 0.473 334 0% 179 43% 0 - - - - NULL CYLC2 1539 genome.wustl.edu 37 9 105767867 105767867 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001340.3 +1 reviewed p.D318 0.000 194 0% 106 18.9% 0 - - - - NULL SMC2 10592 genome.wustl.edu 37 9 106878520 106878520 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042550.1 +1 validated p.R571C 1.000 255 0% 77 42.9% 27 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,superfamily_P-loop containing nucleoside triphosphate hydrolases OR13F1 138805 genome.wustl.edu 37 9 107266748 107266748 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004485.1 +1 provisional p.L69M 0.069 209 0% 112 42.9% 0 - benign(0.22) tolerated(0.07) neutral(0.341) HMMPfam_7tm_1,superfamily_SSF81321 OR13C3 138803 genome.wustl.edu 37 9 107298198 107298198 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001961.1 -1 provisional p.G299 0.000 254 0% 87 46% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 FSD1L 83856 genome.wustl.edu 37 9 108230572 108230572 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145313.1 +1 validated p.K102N 1.000 252 0% 73 37% 1 100% possibly_damaging(0.908) deleterious(0) deleterious(0.806) HMMSmart_SM00502 ZNF462 58499 genome.wustl.edu 37 9 109689069 109689069 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021224.4 +1 validated p.F959C 1.000 50 0% 39 41% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109689803 109689803 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021224.4 +1 validated p.T1204P 1.000 39 0% 40 22.5% 3 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109701307 109701307 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021224.4 +1 validated p.R2116W 1.000 103 0% 63 15.9% 12 8.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_beta-sandwich domain of Sec23/24 ACTL7A 10881 genome.wustl.edu 37 9 111624954 111624954 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006687.2 +1 reviewed p.V118M 1.000 83 0% 49 51% 0 - possibly_damaging(0.924) deleterious(0) deleterious(0.818) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain IKBKAP 8518 genome.wustl.edu 37 9 111641010 111641010 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003640.3 -1 reviewed p.R1198Q 0.995 53 0% 55 43.6% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTNNAL1 8727 genome.wustl.edu 37 9 111761528 111761528 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003798.2 -1 provisional p.T50 0.995 397 0% 96 45.8% 12 16.6% - - - HMMPfam_Vinculin TMEM245 23731 genome.wustl.edu 37 9 111853209 111853209 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032012.3 -1 validated p.P381 0.000 127 0.8% 60 48.3% 16 56.2% - - - NULL PTPN3 5774 genome.wustl.edu 37 9 112141680 112141680 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_026918.1 -1 reviewed NULL 0.024 36 0% 23 26.1% 9 44.4% - - - - PTPN3 5774 genome.wustl.edu 37 9 112153772 112153772 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002829.3 -1 reviewed p.R675* 0.966 289 0% 193 41.5% 5 20% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PALM2-AKAP2 445815 genome.wustl.edu 37 9 112629808 112629808 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007203.4 +1 validated p.R28L 0.998 70 0% 40 45% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PALM2-AKAP2 445815 genome.wustl.edu 37 9 112898778 112898778 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007203.4 +1 validated p.V318 0.000 36 0% 44 50% 6 16.6% - - - NULL PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899132 112899132 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007203.4 +1 validated p.C436W 0.052 50 0% 32 34.4% 5 40% possibly_damaging(0.952) tolerated(0.16) neutral(0.455) NULL TXNDC8 255220 genome.wustl.edu 37 9 113096539 113096539 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003936.2 -1 validated p.S29L 1.000 111 0% 44 31.8% 0 - possibly_damaging(0.484) deleterious(0.01) deleterious(0.566) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin SVEP1 79987 genome.wustl.edu 37 9 113141762 113141762 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153366.3 -1 validated p.A3425T 1.000 136 0.7% 55 18.2% 1 0% probably_damaging(0.996) tolerated(0.27) deleterious(0.495) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113192284 113192284 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153366.3 -1 validated p.A1844V 0.998 237 0% 80 41.2% 0 - probably_damaging(0.991) tolerated(0.55) neutral(0.451) superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113205823 113205823 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153366.3 -1 validated e27+2 1.000 80 0% 45 46.7% 0 - - - - - MUSK 4593 genome.wustl.edu 37 9 113459713 113459713 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005592.3 +1 reviewed p.A199S 1.000 122 0% 71 49.3% 0 - benign(0.199) tolerated(0.27) neutral(0.053) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LPAR1 1902 genome.wustl.edu 37 9 113704261 113704261 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001401.3 -1 reviewed p.R78H 1.000 39 0% 27 59.3% 20 55% possibly_damaging(0.892) tolerated(0.07) deleterious(0.670) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KIAA0368 23392 genome.wustl.edu 37 9 114124334 114124334 + Splice_Site SNP C C A rs71773836 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000374378 -1 known e4-1 1.000 368 0% 108 39.8% 99 46.4% - - - - KIAA0368 23392 genome.wustl.edu 37 9 114155135 114155135 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080398.1 -1 provisional p.G1180D 1.000 342 0% 128 52.3% 31 61.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114195648 114195648 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080398.1 -1 provisional p.K416T 1.000 108 0% 74 29.7% 18 72.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat C9orf84 158401 genome.wustl.edu 37 9 114538191 114538191 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173521.3 -1 validated p.N44H 1.000 361 0% 121 52.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UGCG 7357 genome.wustl.edu 37 9 114693613 114693613 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003358.1 +1 reviewed p.S267F 1.000 479 0% 219 45.2% 15 33.3% benign(0.079) deleterious(0.03) neutral(0.370) superfamily_SSF53448 KIAA1958 158405 genome.wustl.edu 37 9 115336773 115336773 + Missense_Mutation SNP A A G rs189232038 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133465.2 +1 predicted p.Y138C 1.000 248 0% 126 43.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C9orf80 58493 genome.wustl.edu 37 9 115449885 115449885 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021218.1 -1 provisional p.F83S 1.000 223 0% 84 39.3% 31 51.6% possibly_damaging(0.485) deleterious(0) deleterious(0.606) NULL ZNF883 169834 genome.wustl.edu 37 9 115760522 115760522 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101338.1 -1 validated p.I6M 1.000 31 0% 15 33.3% 0 - - - - NULL ZFP37 7539 genome.wustl.edu 37 9 115818887 115818887 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003408.1 -1 provisional p.A28T 0.005 52 0% 46 41.3% 0 - benign(0) deleterious(0) neutral(0.445) NULL FKBP15 23307 genome.wustl.edu 37 9 115950683 115950683 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015258.1 -1 validated p.Q421R 1.000 24 0% 12 58.3% 22 36.3% possibly_damaging(0.528) deleterious(0.04) deleterious(0.527) NULL WDR31 114987 genome.wustl.edu 37 9 116083819 116083819 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012361.1 -1 reviewed p.L204I 0.758 261 0% 137 42.3% 1 0% benign(0.001) tolerated(0.51) neutral(0.009) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ALAD 210 genome.wustl.edu 37 9 116155824 116155824 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000031.5 -1 reviewed p.V6I 0.368 41 0% 39 69.2% 40 42.5% benign(0) tolerated(0.97) - HMMPfam_ALAD,superfamily_SSF51569 POLE3 54107 genome.wustl.edu 37 9 116172003 116172003 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017443.4 -1 validated p.N53T 1.000 79 0% 57 26.3% 34 17.6% benign(0.045) tolerated(0.89) neutral(0.003) HMMPfam_CBFD_NFYB_HMF,superfamily_Histone-fold RGS3 5998 genome.wustl.edu 37 9 116359068 116359068 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144488.4 +1 reviewed p.T1144 0.004 15 0% 13 30.8% 53 22.6% - - - HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS RGS3 5998 genome.wustl.edu 37 9 116359133 116359133 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144488.4 +1 reviewed p.R1166H 1.000 25 0% 25 32% 41 39% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS ZNF618 114991 genome.wustl.edu 37 9 116811675 116811675 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133374.2 +1 validated p.T605M 1.000 13 0% 13 38.5% 12 66.6% probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL AKNA 80709 genome.wustl.edu 37 9 117139235 117139235 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030767.4 -1 validated p.T284 0.000 140 0% 128 33.6% 8 37.5% - - - NULL AKNA 80709 genome.wustl.edu 37 9 117139760 117139760 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030767.4 -1 validated p.A109 0.592 21 0% 25 40% 4 25% - - - NULL TNC 3371 genome.wustl.edu 37 9 117793900 117793900 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002160.2 -1 validated p.Y1951C 1.000 210 1% 118 38.1% 30 26.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TNC 3371 genome.wustl.edu 37 9 117852956 117852956 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002160.2 -1 validated p.A114 0.000 13 0% 14 50% 7 28.5% - - - NULL PAPPA 5069 genome.wustl.edu 37 9 119065047 119065047 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002581.3 +1 reviewed p.R989W 1.000 109 0% 54 20.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_SSF55486 PAPPA 5069 genome.wustl.edu 37 9 119115007 119115007 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002581.3 +1 reviewed p.C1329W 0.994 22 0% 19 42.1% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_CCP,superfamily_Complement_control_module,superfamily_SSF55486 ASTN2 23245 genome.wustl.edu 37 9 119249662 119249662 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198187.3 -1 reviewed p.C1158Y 1.000 50 0% 37 32.4% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_fn3,superfamily_Fibronectin type III TRIM32 22954 genome.wustl.edu 37 9 119460597 119460597 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099679.1 +1 reviewed p.E192 0.950 34 0% 34 38.2% 15 26.6% - - - NULL ASTN2 23245 genome.wustl.edu 37 9 119737522 119737522 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198187.3 -1 reviewed p.T618 0.009 30 0% 16 43.8% 1 0% - - - NULL ASTN2 23245 genome.wustl.edu 37 9 119976913 119976913 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198187.3 -1 reviewed p.E247* 1.000 22 0% 24 58.3% 0 - - - - NULL DBC1 1620 genome.wustl.edu 37 9 121929449 121929449 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014618.2 -1 validated p.S733 1.000 130 0% 97 47.4% 0 - - - - NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123169475 123169475 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018249.4 -1 reviewed p.S1593N 0.822 33 0% 27 51.9% 21 76.1% benign(0.026) tolerated(0.91) neutral(0.001) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123173713 123173713 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018249.4 -1 reviewed p.S1446N 0.994 291 0% 170 43.5% 14 92.8% benign(0) tolerated(0.27) neutral(0.034) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123177384 123177384 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018249.4 -1 reviewed p.E1411* 1.000 366 0.3% 177 36.2% 9 11.1% - - - NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123292400 123292400 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018249.4 -1 reviewed p.K227N 0.990 196 0.5% 104 36.5% 9 11.1% benign(0.016) tolerated(0.22) neutral(0.043) NULL MEGF9 1955 genome.wustl.edu 37 9 123374717 123374717 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080497.1 -1 provisional p.R385 1.000 274 0.4% 151 53.6% 5 80% - - - PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Growth factor receptor domain FBXW2 26190 genome.wustl.edu 37 9 123526948 123526948 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012164.3 -1 reviewed p.G418 1.000 56 0% 49 55.1% 48 47.9% - - - superfamily_WD40 repeat-like FBXW2 26190 genome.wustl.edu 37 9 123550474 123550474 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012164.3 -1 reviewed p.T21 1.000 58 0% 37 51.4% 1 100% - - - NULL PSMD5 5711 genome.wustl.edu 37 9 123580293 123580293 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005047.2 -1 reviewed p.I469T 0.993 208 0% 107 43% 20 20% benign(0) tolerated(0.22) neutral(0.042) HMMPfam_Proteasom_PSMB PSMD5 5711 genome.wustl.edu 37 9 123589136 123589136 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005047.2 -1 reviewed p.R241* 1.000 140 0% 62 50% 9 0% - - - superfamily_ARM-type_fold,HMMPfam_Proteasom_PSMB PHF19 26147 genome.wustl.edu 37 9 123620512 123620512 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015651.1 -1 validated p.L485M 0.795 15 0% 23 39.1% 6 33.3% probably_damaging(0.996) tolerated(0.25) deleterious(0.498) NULL TRAF1 7185 genome.wustl.edu 37 9 123686038 123686038 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005658.3 -1 reviewed p.R58K 0.974 92 0% 66 43.9% 2 50% benign(0) tolerated(0.94) - NULL CNTRL 11064 genome.wustl.edu 37 9 123906322 123906322 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007018.4 +1 reviewed p.H1005N 1.000 102 0% 33 39.4% 7 28.5% probably_damaging(0.98) deleterious(0.05) deleterious(0.769) NULL CNTRL 11064 genome.wustl.edu 37 9 123907198 123907198 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007018.4 +1 reviewed p.I1043 0.757 30 0% 24 50% 5 80% - - - NULL CNTRL 11064 genome.wustl.edu 37 9 123907526 123907526 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007018.4 +1 reviewed p.R1058Q 0.009 239 0% 97 32% 7 28.5% benign(0.002) deleterious(0.01) neutral(0.406) NULL GSN 2934 genome.wustl.edu 37 9 124086863 124086863 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000177.4 +1 reviewed p.A504T 0.984 25 0% 29 37.9% 189 35.4% benign(0.001) tolerated(1) - HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins DAB2IP 153090 genome.wustl.edu 37 9 124528908 124528908 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032552.2 +1 validated p.S504 0.705 30 0% 40 52.5% 37 54% - - - HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP DAB2IP 153090 genome.wustl.edu 37 9 124530834 124530834 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032552.2 +1 validated p.F579 0.999 21 0% 33 39.4% 37 56.7% - - - HMMSmart_SM00323,superfamily_GTPase activation domain GAP DAB2IP 153090 genome.wustl.edu 37 9 124536671 124536671 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032552.2 +1 validated p.E1006K 1.000 19 0% 15 40% 22 40.9% possibly_damaging(0.484) tolerated(0.18) neutral(0.216) NULL TTLL11 158135 genome.wustl.edu 37 9 124751690 124751690 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001139442.1 -1 validated p.S441 0.752 89 0% 85 41.2% 3 100% - - - HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like TTLL11 158135 genome.wustl.edu 37 9 124751810 124751810 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001139442.1 -1 validated p.E401D 1.000 73 0% 54 35.2% 4 50% probably_damaging(0.992) tolerated(0.07) deleterious(0.766) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like LHX6 26468 genome.wustl.edu 37 9 124975963 124975963 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014368.3 -1 reviewed p.L326M 1.000 9 0.000 11 0.455 1 0% possibly_damaging(0.8) tolerated(0.21) neutral(0.345) NULL OR1J4 26219 genome.wustl.edu 37 9 125281522 125281522 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004452.1 +1 provisional p.Y35H 1.000 102 0% 80 41.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Family A G protein-coupled receptor-like OR1L6 392390 genome.wustl.edu 37 9 125512604 125512604 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004453.2 +1 validated p.R196C 0.029 72 0% 48 25% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_7tm_1,superfamily_SSF81321 OR5C1 392391 genome.wustl.edu 37 9 125551381 125551381 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001923.1 +1 provisional p.A57V 0.003 35 0% 56 46.4% 0 - benign(0.221) tolerated(0.11) neutral(0.294) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5C1 392391 genome.wustl.edu 37 9 125551796 125551796 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001923.1 +1 provisional p.D195 0.999 50 0% 38 39.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PDCL 5082 genome.wustl.edu 37 9 125582471 125582471 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005388.3 -1 reviewed p.F267V 1.000 111 0% 65 12.3% 33 21.2% possibly_damaging(0.873) deleterious(0) deleterious(0.784) HMMPfam_Phosducin,superfamily_Thioredoxin-like RC3H2 54542 genome.wustl.edu 37 9 125612042 125612042 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100588.1 -1 validated p.S1147Y 1.000 182 0% 114 11.4% 20 30% benign(0.076) deleterious(0) neutral(0.450) NULL RC3H2 54542 genome.wustl.edu 37 9 125627702 125627702 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100588.1 -1 validated p.T520 0.998 205 0% 154 47.4% 10 60% - - - NULL RC3H2 54542 genome.wustl.edu 37 9 125659637 125659637 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100588.1 -1 validated p.P51H 1.000 108 0% 66 25.8% 21 47.6% possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMSmart_SM00184,superfamily_RING/U-box GPR21 2844 genome.wustl.edu 37 9 125797447 125797447 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005294.1 +1 provisional p.A201V 1.000 80 0% 51 35.3% 0 - benign(0.015) tolerated(0.4) neutral(0.017) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RABGAP1 23637 genome.wustl.edu 37 9 125861826 125861826 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012197.3 +1 validated p.R963W 1.000 370 0% 189 48.1% 26 38.4% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL STRBP 55342 genome.wustl.edu 37 9 125932245 125932245 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018387.4 -1 validated p.T157 0.010 356 0% 126 48.4% 19 52.6% - - - HMMPfam_DZF,HMMSmart_SM00572 STRBP 55342 genome.wustl.edu 37 9 125932299 125932299 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018387.4 -1 validated p.V139 1.000 402 0% 125 41.6% 23 43.4% - - - HMMPfam_DZF,HMMSmart_SM00572 STRBP 55342 genome.wustl.edu 37 9 125941496 125941496 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018387.4 -1 validated p.R5Q 1.000 174 0% 98 46.9% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DENND1A 57706 genome.wustl.edu 37 9 126219682 126219682 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020946.1 -1 validated p.S377 0.394 164 0% 94 39.4% 17 35.2% - - - NULL GPR144 347088 genome.wustl.edu 37 9 127219010 127219010 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000334810 +1 known p.A520D 0.000 8 0.000 15 0.333 0 - probably_damaging(0.962) tolerated(0.06) deleterious(0.728) NULL NR6A1 2649 genome.wustl.edu 37 9 127289154 127289154 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033334.2 -1 reviewed p.I369V 1.000 53 0% 37 18.9% 1 0% benign(0.001) tolerated(0.98) - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain WDR38 401551 genome.wustl.edu 37 9 127619016 127619016 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001045476.1 +1 provisional p.S208 0.781 23 0% 27 44.4% 1 0% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 GOLGA1 2800 genome.wustl.edu 37 9 127644207 127644207 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002077.3 -1 reviewed p.F664 1.000 147 0% 83 44.6% 12 50% - - - NULL PPP6C 5537 genome.wustl.edu 37 9 127933378 127933378 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001123355.1 -1 reviewed p.D90N 1.000 259 0% 134 41.8% 42 64.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 RABEPK 10244 genome.wustl.edu 37 9 127975748 127975748 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005833.3 +1 validated p.F104S 1.000 134 0% 77 14.3% 34 11.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 HSPA5 3309 genome.wustl.edu 37 9 128001497 128001497 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005347.3 -1 validated p.G240D 1.000 67 0% 57 40.4% 824 47.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HSP70,superfamily_Actin-like ATPase domain GAPVD1 26130 genome.wustl.edu 37 9 128099689 128099689 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015635.2 +1 validated p.R926Q 1.000 65 0% 46 41.3% 13 46.1% probably_damaging(0.999) tolerated(0.29) deleterious(0.519) NULL PBX3 5090 genome.wustl.edu 37 9 128692121 128692121 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006195.5 +1 validated p.A235V 1.000 175 0% 100 39% 6 33.3% benign(0.092) tolerated(0.06) neutral(0.330) HMMSmart_SM00389,superfamily_Homeodomain-like ZBTB34 403341 genome.wustl.edu 37 9 129642386 129642386 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099270.1 +1 validated p.T232 0.002 81 0% 60 35% 5 20% - - - NULL ANGPTL2 23452 genome.wustl.edu 37 9 129853993 129853993 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012098.2 -1 reviewed p.G413D 1.000 29 0% 27 44.4% 25 44% possibly_damaging(0.655) tolerated(0.29) neutral(0.260) HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C GARNL3 84253 genome.wustl.edu 37 9 130145810 130145810 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032293.4 +1 validated p.A752D 1.000 242 0% 175 36.6% 5 80% benign(0.314) tolerated(0.06) neutral(0.420) HMMPfam_CNH,HMMSmart_SM00036 RPL12 6136 genome.wustl.edu 37 9 130211949 130211949 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000976.2 -1 reviewed p.T50 0.338 130 0% 84 17.9% 1615 10.4% - - - HMMPfam_Ribosomal_L11_N,HMMSmart_SM00649,superfamily_Ribosomal protein L11 N-terminal domain STXBP1 6812 genome.wustl.edu 37 9 130420674 130420674 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003165.3 +1 reviewed p.R64C 1.000 136 0% 79 43% 9 22.2% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins C9orf117 286207 genome.wustl.edu 37 9 130471846 130471846 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012502.2 +1 predicted p.E103K 0.783 31 3.2% 19 57.9% 4 75% possibly_damaging(0.647) deleterious(0.03) deleterious(0.592) NULL TTC16 158248 genome.wustl.edu 37 9 130493005 130493005 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144965.1 +1 provisional p.S648L 0.252 23 0% 20 35% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SH2D3C 10044 genome.wustl.edu 37 9 130507372 130507372 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170600.2 -1 validated p.R424H 0.989 4 0.000 11 0.636 3 0% possibly_damaging(0.818) tolerated(0.09) deleterious(0.605) NULL ENG 2022 genome.wustl.edu 37 9 130587536 130587536 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114753.1 -1 reviewed p.D264N 0.009 9 0.000 12 0.500 42 23.8% benign(0.108) tolerated(0.08) neutral(0.308) NULL FAM102A 399665 genome.wustl.edu 37 9 130707118 130707118 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001035254.2 -1 validated p.A326V 1.000 19 0% 16 43.8% 31 54.8% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SLC25A25 114789 genome.wustl.edu 37 9 130868436 130868436 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006641.1 +1 validated p.R303H 0.997 156 0% 98 41.8% 11 36.3% possibly_damaging(0.768) deleterious(0.01) deleterious(0.691) superfamily_Mitoch_carrier,HMMPfam_Mito_carr CIZ1 25792 genome.wustl.edu 37 9 130941263 130941263 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001131016.1 -1 validated p.Q408R 0.957 43 0% 42 40.5% 57 31.5% unknown(0) tolerated(0.06) - NULL GOLGA2 2801 genome.wustl.edu 37 9 131019756 131019756 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004486.4 -1 reviewed p.R896C 0.980 23 0% 43 44.2% 67 29.8% unknown(0) deleterious(0.02) - NULL GOLGA2 2801 genome.wustl.edu 37 9 131024934 131024934 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004486.4 -1 reviewed p.L321F 0.014 181 0% 104 37.5% 49 34.6% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL SLC27A4 10999 genome.wustl.edu 37 9 131110941 131110941 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005094.3 +1 reviewed p.A225D 1.000 14 0% 26 57.7% 18 27.7% benign(0.358) deleterious(0) deleterious(0.558) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like URM1 81605 genome.wustl.edu 37 9 131140350 131140350 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135947.1 +1 validated p.K24T 1.000 125 0% 98 40.8% 46 39.1% possibly_damaging(0.736) tolerated(0.06) deleterious(0.592) HMMPfam_Urm1 CERCAM 51148 genome.wustl.edu 37 9 131191109 131191109 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016174.4 +1 validated p.D320 1.000 14 0% 18 77.8% 29 31% - - - HMMPfam_Glyco_transf_25 SPTAN1 6709 genome.wustl.edu 37 9 131344834 131344834 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130438.1 +1 validated p.A550D 1.000 183 0% 118 43.2% 53 45.2% possibly_damaging(0.586) tolerated(0.37) neutral(0.221) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin LRRC8A 56262 genome.wustl.edu 37 9 131669935 131669935 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127244.1 +1 reviewed p.F164 0.975 24 0% 24 54.2% 22 59% - - - NULL PHYHD1 254295 genome.wustl.edu 37 9 131704001 131704001 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174933.3 +1 validated p.R288H 0.000 22 0% 25 36% 66 66.6% probably_damaging(0.986) - - NULL DOLK 22845 genome.wustl.edu 37 9 131708119 131708119 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014908.3 -1 reviewed p.A488 0.716 96 0% 67 46.3% 20 65% - - - NULL NUP188 23511 genome.wustl.edu 37 9 131742955 131742955 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015354.1 +1 validated p.L447H 1.000 91 0% 58 31% 20 55% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Nup188 NUP188 23511 genome.wustl.edu 37 9 131745254 131745254 + Silent SNP G G A rs148151804 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015354.1 +1 validated p.S581 0.021 32 0% 21 38.1% 37 48.6% - - - HMMPfam_Nup188 SH3GLB2 56904 genome.wustl.edu 37 9 131772121 131772121 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020145.2 -1 provisional p.F256 0.951 19 0% 21 52.4% 95 48.4% - - - HMMPfam_BAR,HMMSmart_SM00721 CRAT 1384 genome.wustl.edu 37 9 131860304 131860304 + Missense_Mutation SNP G G T rs113981850 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000755.3 -1 reviewed p.D484E 0.774 15 0% 25 40% 100 45% benign(0.006) tolerated(0.21) neutral(0.044) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases METTL11A 28989 genome.wustl.edu 37 9 132394988 132394988 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014064.2 +1 validated p.T2 0.923 71 1.4% 63 30.2% 46 47.8% - - - NULL ASB6 140459 genome.wustl.edu 37 9 132400904 132400904 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177999.1 -1 reviewed p.A146V 0.991 37 0% 41 46.3% 24 62.5% unknown(0) tolerated(0.18) - superfamily_ANK USP20 10868 genome.wustl.edu 37 9 132630483 132630483 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008563.3 +1 validated p.G297E 1.000 23 0% 28 60.7% 18 50% benign(0.11) deleterious(0.02) neutral(0.392) HMMPfam_UCH,superfamily_SSF54001 ASS1 445 genome.wustl.edu 37 9 133329718 133329718 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000050.4 +1 reviewed p.F44 0.985 49 0% 34 35.3% 55 60% - - - HMMPfam_Arginosuc_synth,superfamily_Adenine nucleotide alpha hydrolases-like EXOSC2 23404 genome.wustl.edu 37 9 133573555 133573555 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014285.5 +1 validated p.Q93* 1.000 53 0% 45 42.2% 18 22.2% - - - NULL ABL1 25 genome.wustl.edu 37 9 133738347 133738347 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007313.2 +1 reviewed p.G268 0.082 24 0% 32 43.8% 38 55.2% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,superfamily_SH2 domain ABL1 25 genome.wustl.edu 37 9 133748251 133748251 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007313.2 +1 reviewed p.V323 0.999 33 0% 39 48.7% 25 44% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) LAMC3 10319 genome.wustl.edu 37 9 133907471 133907471 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006059.3 +1 reviewed p.R240W 1.000 72 1.4% 80 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_N,HMMSmart_LamNT NUP214 8021 genome.wustl.edu 37 9 134025743 134025743 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005085.2 +1 reviewed p.K691N 1.000 250 0% 126 50% 9 22.2% probably_damaging(0.998) tolerated(0.26) deleterious(0.508) NULL FAM78A 286336 genome.wustl.edu 37 9 134136426 134136426 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033387.3 -1 validated p.R212H 1.000 27 0% 24 45.8% 7 14.2% benign(0.081) deleterious(0.01) neutral(0.412) NULL PRRC2B 84726 genome.wustl.edu 37 9 134343118 134343118 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013318.3 +1 validated p.R630H 1.000 56 0% 33 51.5% 45 44.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL POMT1 10585 genome.wustl.edu 37 9 134394258 134394258 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007171.3 +1 reviewed p.R489Q 1.000 14 0% 16 68.8% 27 44.4% benign(0.04) tolerated(0.27) neutral(0.036) HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 POMT1 10585 genome.wustl.edu 37 9 134394819 134394819 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007171.3 +1 reviewed p.A532 0.000 23 0% 18 66.7% 49 36.7% - - - NULL POMT1 10585 genome.wustl.edu 37 9 134396774 134396774 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007171.3 +1 reviewed p.S602 0.027 64 0% 66 47% 63 41.2% - - - NULL POMT1 10585 genome.wustl.edu 37 9 134397598 134397598 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007171.3 +1 reviewed p.D686N 0.937 34 0% 40 25% 44 29.5% benign(0.174) tolerated(0.45) neutral(0.028) NULL UCK1 83549 genome.wustl.edu 37 9 134400542 134400542 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031432.2 -1 validated p.R240Q 1.000 16 0% 22 54.5% 51 41.1% possibly_damaging(0.938) tolerated(0.21) neutral(0.427) NULL RAPGEF1 2889 genome.wustl.edu 37 9 134465325 134465325 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198679.1 -1 reviewed p.R771C 1.000 55 0% 53 54.7% 20 45% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RasGEF_N,HMMSmart_RasGEFN,superfamily_Ras_GEF RAPGEF1 2889 genome.wustl.edu 37 9 134501638 134501638 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198679.1 -1 reviewed p.D459A 0.985 16 0% 15 60% 38 55.2% benign(0.006) deleterious(0.01) neutral(0.406) NULL MED27 9442 genome.wustl.edu 37 9 134738469 134738469 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004269.2 -1 reviewed p.V261G 0.998 45 0% 41 43.9% 39 38.4% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL SETX 23064 genome.wustl.edu 37 9 135163702 135163702 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015046.5 -1 reviewed p.K2082T 0.189 57 0% 34 47.1% 13 53.8% benign(0.223) deleterious(0.04) neutral(0.371) superfamily_P-loop containing nucleoside triphosphate hydrolases SETX 23064 genome.wustl.edu 37 9 135202512 135202512 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015046.5 -1 reviewed p.A1491 0.358 288 0% 177 41.2% 5 40% - - - NULL DDX31 64794 genome.wustl.edu 37 9 135538068 135538068 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022779.7 -1 reviewed p.T135 0.999 148 0% 95 45.3% 5 60% - - - NULL TSC1 7248 genome.wustl.edu 37 9 135771902 135771902 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000368.4 -1 reviewed p.A1072V 0.951 42 0% 24 29.2% 3 33.3% benign(0.004) tolerated(0.11) neutral(0.272) NULL TSC1 7248 genome.wustl.edu 37 9 135781106 135781106 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000368.4 -1 reviewed p.V620A 1.000 215 0% 143 47.6% 8 37.5% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMPfam_Hamartin RALGDS 5900 genome.wustl.edu 37 9 135983428 135983428 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006266.2 -1 validated p.L382I 0.962 25 0% 18 50% 42 47.6% benign(0.025) tolerated(0.25) neutral(0.038) HMMSmart_SM00147,superfamily_Ras GEF GBGT1 26301 genome.wustl.edu 37 9 136029136 136029136 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021996.4 -1 validated p.I291S 0.947 35 0% 26 26.9% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Glyco_transf_6,superfamily_Nucleotide-diphospho-sugar transferases GBGT1 26301 genome.wustl.edu 37 9 136029334 136029334 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021996.4 -1 validated p.A225V 1.000 29 0% 15 40% 1 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Glyco_transf_6,superfamily_Nucleotide-diphospho-sugar transferases GBGT1 26301 genome.wustl.edu 37 9 136030664 136030664 + Missense_Mutation SNP G G A rs185276552 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021996.4 -1 validated p.A87V 0.999 38 0% 43 48.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_transf_6,superfamily_Nucleotide-diphospho-sugar transferases SURF1 6834 genome.wustl.edu 37 9 136219405 136219405 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003172.2 -1 reviewed p.F216S 1.000 168 0% 145 40% 83 46.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SURF1 SURF2 6835 genome.wustl.edu 37 9 136227231 136227231 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017503.3 +1 reviewed p.K203T 0.000 96 0% 97 36.1% 68 33.8% benign(0.31) tolerated(0.11) neutral(0.368) HMMPfam_SURF2 C9orf96 169436 genome.wustl.edu 37 9 136265581 136265581 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153710.3 +1 validated p.T374 0.000 18 0% 25 48% 0 - - - - superfamily_ARM repeat REXO4 57109 genome.wustl.edu 37 9 136278002 136278002 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020385.2 -1 validated p.I204 0.979 30 0% 38 55.3% 33 36.3% - - - NULL ADAMTS13 11093 genome.wustl.edu 37 9 136279647 136279647 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_024514.1 +1 reviewed NULL 0.002 23 0% 32 40.6% 0 - - - - - ADAMTS13 11093 genome.wustl.edu 37 9 136305609 136305609 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139025.3 +1 reviewed p.R644H 0.006 10 0% 12 33.3% 5 40% benign(0.04) tolerated(0.58) neutral(0.007) NULL ADAMTS13 11093 genome.wustl.edu 37 9 136319686 136319686 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139025.3 +1 reviewed p.V1065A 0.710 9 0.000 8 0.625 7 57.1% possibly_damaging(0.952) tolerated(0.48) neutral(0.406) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS13 11093 genome.wustl.edu 37 9 136324375 136324375 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_024514.1 +1 reviewed NULL 0.000 19 0% 21 47.6% 4 50% - - - - ADAMTS13 11093 genome.wustl.edu 37 9 136324376 136324376 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_024514.1 +1 reviewed NULL 0.000 19 0% 20 40% 4 50% - - - - ADAMTS13 11093 genome.wustl.edu 37 9 136324417 136324417 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_024514.1 +1 reviewed NULL 0.001 31 0% 14 35.7% 4 50% - - - - SLC2A6 11182 genome.wustl.edu 37 9 136337276 136337276 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017585.3 -1 validated p.P464H 1.000 17 0% 26 46.2% 7 71.4% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter SLC2A6 11182 genome.wustl.edu 37 9 136337294 136337294 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017585.3 -1 validated p.T458I 0.541 14 0% 21 42.9% 7 42.8% benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter ADAMTSL2 9719 genome.wustl.edu 37 9 136405800 136405800 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145320.1 +1 reviewed p.A165T 1.000 17 0% 19 31.6% 2 0% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL DBH 1621 genome.wustl.edu 37 9 136512976 136512976 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000787.3 +1 reviewed p.D345N 1.000 35 0% 29 48.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PHM_PNGase_F BRD3 8019 genome.wustl.edu 37 9 136901162 136901162 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007371.3 -1 reviewed p.K643R 1.000 120 0% 103 12.6% 20 25% benign(0.313) deleterious(0.01) deleterious(0.503) NULL BRD3 8019 genome.wustl.edu 37 9 136901431 136901431 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007371.3 -1 reviewed p.G553 0.725 27 0% 26 57.7% 25 32% - - - NULL BRD3 8019 genome.wustl.edu 37 9 136915687 136915687 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007371.3 -1 reviewed p.S175P 1.000 18 0% 10 50% 25 40% possibly_damaging(0.902) tolerated(0.17) neutral(0.416) NULL WDR5 11091 genome.wustl.edu 37 9 137005034 137005034 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017588.2 +1 reviewed p.A12G 0.985 10 0.000 8 0.625 32 50% unknown(0) tolerated(0.44) - NULL COL5A1 1289 genome.wustl.edu 37 9 137697008 137697008 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000093.3 +1 reviewed p.G1069V 1.000 32 0% 39 38.5% 10 0% unknown(0) deleterious(0) - HMMPfam_Collagen COL5A1 1289 genome.wustl.edu 37 9 137701073 137701073 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000093.3 +1 reviewed p.Q1137 0.997 17 0% 15 46.7% 5 0% - - - HMMPfam_Collagen FCN2 2220 genome.wustl.edu 37 9 137777084 137777084 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004108.2 +1 reviewed e5-1 0.170 8 0.000 29 0.448 0 - - - - - PPP1R26 9858 genome.wustl.edu 37 9 138376709 138376709 + Missense_Mutation SNP C C T rs188912013 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014811.3 +1 validated p.P118L 0.176 9 0.000 10 0.600 12 50% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL PPP1R26 9858 genome.wustl.edu 37 9 138377845 138377845 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014811.3 +1 validated p.A497T 0.000 13 0% 12 33.3% 19 31.5% possibly_damaging(0.915) tolerated(0.06) deleterious(0.689) NULL MRPS2 51116 genome.wustl.edu 37 9 138393782 138393782 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016034.3 +1 reviewed p.R88* 0.998 67 0% 54 46.3% 86 44.1% - - - HMMPfam_Ribosomal_S2,superfamily_Ribosomal_S2,PatternScan_RIBOSOMAL_S2_1 GLT6D1 360203 genome.wustl.edu 37 9 138516374 138516374 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182974.2 -1 provisional p.A134S 0.000 29 0% 20 50% 0 - benign(0.221) deleterious(0.05) neutral(0.367) HMMPfam_Glyco_transf_6,superfamily_SSF53448 KCNT1 57582 genome.wustl.edu 37 9 138676681 138676681 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020822.2 +1 validated p.A1034 0.021 10 0% 11 63.6% 0 - - - - NULL CAMSAP1 157922 genome.wustl.edu 37 9 138713672 138713672 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015447.3 -1 validated p.E945D 0.999 29 0% 28 39.3% 16 50% benign(0.007) tolerated(0.31) neutral(0.027) NULL CAMSAP1 157922 genome.wustl.edu 37 9 138714466 138714466 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015447.3 -1 validated p.G681W 0.003 39 0% 36 44.4% 4 50% possibly_damaging(0.899) deleterious(0.02) deleterious(0.739) NULL UBAC1 10422 genome.wustl.edu 37 9 138830184 138830184 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016172.2 -1 validated p.R329Q 1.000 22 0% 20 30% 37 10.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_UBA_like CARD9 64170 genome.wustl.edu 37 9 139258819 139258819 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052813.4 -1 reviewed p.R516W 0.049 10 0% 25 44% 5 40% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SNAPC4 6621 genome.wustl.edu 37 9 139289777 139289777 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003086.2 -1 validated p.P148 0.890 56 0% 38 44.7% 8 50% - - - NULL SDCCAG3 10807 genome.wustl.edu 37 9 139300404 139300404 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039707.1 -1 validated p.R282S 1.000 229 0% 142 44.4% 13 23% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL SDCCAG3 10807 genome.wustl.edu 37 9 139301843 139301843 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039707.1 -1 validated p.S191 0.000 8 0.000 14 0.357 48 39.5% - - - NULL SEC16A 9919 genome.wustl.edu 37 9 139353673 139353673 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014866.1 -1 validated p.F1774 0.995 100 0% 69 50.7% 39 76.9% - - - NULL SEC16A 9919 genome.wustl.edu 37 9 139368647 139368647 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014866.1 -1 validated p.P1141S 0.995 14 0% 20 25% 25 68% probably_damaging(0.994) tolerated(0.17) deleterious(0.511) NULL SEC16A 9919 genome.wustl.edu 37 9 139371122 139371122 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014866.1 -1 validated p.E316* 0.091 15 0% 19 36.8% 20 20% - - - NULL LCN6 158062 genome.wustl.edu 37 9 139641983 139641983 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198946.2 -1 validated p.A41 0.979 27 0% 14 50% 0 - - - - superfamily_Calycin C9orf86 55684 genome.wustl.edu 37 9 139733778 139733778 + Missense_Mutation SNP G G A rs191432837 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024718.4 +1 validated p.R533H 0.000 17 0% 17 35.3% 144 43.7% benign(0.064) tolerated(0.15) neutral(0.245) NULL PHPT1 29085 genome.wustl.edu 37 9 139745229 139745229 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014172.4 +1 validated p.A103V 0.984 40 0% 31 25.8% 334 46.1% benign(0.083) tolerated(0.1) neutral(0.292) HMMPfam_Ocnus PTGDS 5730 genome.wustl.edu 37 9 139873550 139873550 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000954.5 +1 reviewed p.D74N 0.000 12 0% 16 68.8% 70 11.4% possibly_damaging(0.83) deleterious(0.01) deleterious(0.721) HMMPfam_Lipocalin,superfamily_Lipocalins ABCA2 20 genome.wustl.edu 37 9 139911420 139911420 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_212533.2 -1 reviewed p.A934T 0.982 5 0.000 7 0.571 26 57.6% benign(0) tolerated(0.58) neutral(0.005) NULL GRIN1 2902 genome.wustl.edu 37 9 140055594 140055594 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007327.3 +1 reviewed p.G428 0.985 9 0.000 28 0.393 0 - - - - superfamily_Periplasmic binding protein-like II GRIN1 2902 genome.wustl.edu 37 9 140058087 140058087 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007327.3 +1 reviewed p.A804T 1.000 23 0% 17 58.8% 1 100% benign(0) tolerated(0.69) neutral(0.002) HMMPfam_Lig_chan RNF208 727800 genome.wustl.edu 37 9 140114925 140114925 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031297.3 -1 validated p.C247Y 1.000 10 0% 13 69.2% 51 35.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL FAM166A 401565 genome.wustl.edu 37 9 140139660 140139660 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001710.1 -1 predicted p.C178Y 0.051 15 0% 13 46.2% 0 - benign(0) tolerated(0.22) neutral(0.042) NULL FAM166A 401565 genome.wustl.edu 37 9 140139957 140139957 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001710.1 -1 predicted p.E108 0.000 37 0% 43 46.5% 0 - - - - NULL C9orf173 441476 genome.wustl.edu 37 9 140146280 140146280 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004353.2 +1 validated p.G67 0.000 15 0% 25 40% 0 - - - - NULL NELF 26012 genome.wustl.edu 37 9 140347304 140347304 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000371482 -1 known p.L3 0.000 30 0% 22 45.5% 3 66.6% - - - NULL NELF 26012 genome.wustl.edu 37 9 140349730 140349730 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130969.1 -1 reviewed p.R247H 1.000 9 0.000 12 0.333 34 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PNPLA7 375775 genome.wustl.edu 37 9 140357194 140357194 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098537.1 -1 validated p.A1145 0.032 41 0% 33 48.5% 9 33.3% - - - superfamily_FabD/lysophospholipase-like PNPLA7 375775 genome.wustl.edu 37 9 140409961 140409961 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098537.1 -1 validated p.G365 0.000 8 0.000 10 0.500 1 100% - - - NULL PNPLA7 375775 genome.wustl.edu 37 9 140417302 140417302 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098537.1 -1 validated p.A252V 0.684 12 0% 32 37.5% 3 0% benign(0.018) tolerated(0.08) neutral(0.300) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like PNPLA7 375775 genome.wustl.edu 37 9 140437117 140437117 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098537.1 -1 validated p.L215M 1.000 10 0% 10 40% 3 100% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like PNPLA7 375775 genome.wustl.edu 37 9 140437885 140437885 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098537.1 -1 validated p.R169W 0.926 19 0% 23 43.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_cAMP-binding domain-like WDR85 92715 genome.wustl.edu 37 9 140459602 140459602 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138778.2 -1 provisional p.G215 0.302 64 0% 57 42.1% 26 53.8% - - - HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 EHMT1 79813 genome.wustl.edu 37 9 140611329 140611329 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000460843 +1 known p.D113N 0.985 28 0% 22 36.4% 26 53.8% possibly_damaging(0.604) tolerated(0.28) neutral(0.241) NULL CACNA1B 774 genome.wustl.edu 37 9 140865931 140865931 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000718.2 +1 validated p.R477H 1.000 85 0% 100 14% 0 - probably_damaging(0.997) tolerated(0.44) deleterious(0.479) superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 140870442 140870442 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000718.2 +1 validated p.R543W 1.000 122 0% 89 51.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 140952691 140952691 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000718.2 +1 validated p.E1433K 1.000 248 0% 212 43.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CACNA1B 774 genome.wustl.edu 37 9 140995636 140995636 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000371365 +1 known p.R132H 1.000 14 0.000 7 0.571 0 - benign(0) tolerated(1) - NULL CACNA1B 774 genome.wustl.edu 37 9 141006957 141006957 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000718.2 +1 validated p.P1846S 1.000 38 0% 30 33.3% 0 - benign(0.001) tolerated(1) - HMMPfam_Ca_chan_IQ TUBB8 347688 genome.wustl.edu 37 10 93846 93846 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177987.2 -1 validated p.R162 1.000 52 0% 44 18.2% 0 - - - - HMMPfam_Tubulin,superfamily_Tubulin_FtsZ DIP2C 22982 genome.wustl.edu 37 10 436284 436284 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014974.2 -1 reviewed p.E472* 1.000 86 0% 36 72.2% 1 100% - - - HMMPfam_AMP-binding,superfamily_SSF56801 LARP4B 23185 genome.wustl.edu 37 10 875433 875433 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015155.1 -1 provisional p.T339 0.034 65 0% 18 66.7% 13 92.3% - - - NULL LARP4B 23185 genome.wustl.edu 37 10 909814 909814 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015155.1 -1 provisional p.A100D 0.999 73 0% 33 54.5% 16 100% possibly_damaging(0.604) tolerated(0.61) neutral(0.213) NULL GTPBP4 23560 genome.wustl.edu 37 10 1052999 1052999 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012341.2 +1 reviewed p.M348I 1.000 229 0% 111 74.8% 13 100% benign(0.008) tolerated(0.2) neutral(0.049) NULL KLF6 1316 genome.wustl.edu 37 10 3824115 3824115 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001300.5 -1 reviewed p.E132K 0.570 70 0% 29 72.4% 12 66.6% benign(0.156) tolerated(0.69) neutral(0.016) NULL AKR1C1 1645 genome.wustl.edu 37 10 5014843 5014843 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001353.5 +1 reviewed p.R250* 0.067 65 0% 33 27.3% 0 - - - - HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red AKR1CL1 340811 genome.wustl.edu 37 10 5204843 5204843 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380510 -1 known p.K78 0.961 246 0% 59 66.1% 0 - - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase AKR1C4 1109 genome.wustl.edu 37 10 5242198 5242198 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001818.2 +1 reviewed p.R47C 1.000 161 0% 32 50% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase,PatternScan_ALDOKETO_REDUCTASE_1 UCN3 114131 genome.wustl.edu 37 10 5415744 5415744 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053049.2 +1 reviewed p.G21C 0.027 17 0% 17 76.5% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL TUBAL3 79861 genome.wustl.edu 37 10 5435510 5435510 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024803.2 -1 validated p.R437 1.000 58 0% 39 82.1% 0 - - - - superfamily_Tubulin C-terminal domain-like NET1 10276 genome.wustl.edu 37 10 5498747 5498747 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001047160.1 +1 validated p.P527 0.000 21 0% 20 25% 41 39% - - - NULL GDI2 2665 genome.wustl.edu 37 10 5810196 5810196 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001494.3 -1 reviewed p.N324S 1.000 267 0% 113 23.9% 77 19.4% benign(0) tolerated(0.86) neutral(0.001) HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain FBXO18 84893 genome.wustl.edu 37 10 5979174 5979174 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000379994 +1 known p.R391C 0.001 20 0% 10 70% 46 89.1% unknown(0) deleterious(0) - NULL IL2RA 3559 genome.wustl.edu 37 10 6060053 6060053 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000417.2 -1 reviewed p.V253I 0.350 46 0% 26 30.8% 3 0% unknown(0) - - NULL IL2RA 3559 genome.wustl.edu 37 10 6063598 6063598 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000417.2 -1 reviewed p.F142 0.706 119 0% 87 44.8% 2 0% - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module PRKCQ 5588 genome.wustl.edu 37 10 6553151 6553151 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006257.2 -1 reviewed p.G42R 1.000 134 0% 75 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SFMBT2 57713 genome.wustl.edu 37 10 7327814 7327814 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000379713 -1 known p.V180A 0.001 131 0% 100 42% 0 - benign(0.016) tolerated(0.05) neutral(0.346) NULL ATP5C1 509 genome.wustl.edu 37 10 7844303 7844303 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001973.1 +1 reviewed p.N236 1.000 113 0% 61 42.6% 403 49.3% - - - HMMPfam_ATP-synt,superfamily_ATP synthase (F1-ATPase) gamma subunit TAF3 83860 genome.wustl.edu 37 10 8056704 8056704 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031923.2 +1 provisional p.R927Q 1.000 83 0% 78 52.6% 10 50% unknown(0) tolerated(0.05) - NULL CELF2 10659 genome.wustl.edu 37 10 11047376 11047376 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001025077.2 +1 reviewed p.T9I 1.000 635 0% 317 41% 0 - possibly_damaging(0.604) deleterious(0.01) deleterious(0.615) superfamily_RNA-binding domain RBD CELF2 10659 genome.wustl.edu 37 10 11363154 11363154 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006561.3 +1 reviewed p.A367T 1.000 342 0% 213 39% 0 - unknown(0) tolerated(0.34) - NULL DHTKD1 55526 genome.wustl.edu 37 10 12162870 12162870 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018706.5 +1 validated p.A915T 0.873 104 0% 68 50% 15 26.6% benign(0) tolerated(0.62) neutral(0.004) NULL CAMK1D 57118 genome.wustl.edu 37 10 12833208 12833208 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153498.2 +1 reviewed p.S206F 1.000 255 0.4% 152 46.1% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAMK1D 57118 genome.wustl.edu 37 10 12870787 12870787 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153498.2 +1 reviewed p.L353 1.000 40 0% 33 45.5% 5 40% - - - NULL CCDC3 83643 genome.wustl.edu 37 10 12940571 12940571 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031455.3 -1 validated p.R220* 0.999 14 0% 28 46.4% 8 0% - - - NULL UCMA 221044 genome.wustl.edu 37 10 13275783 13275783 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145314.1 -1 provisional p.S26R 0.000 41 0% 30 46.7% 0 - possibly_damaging(0.688) tolerated(0.11) deleterious(0.518) NULL UCMA 221044 genome.wustl.edu 37 10 13276248 13276248 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145314.1 -1 provisional p.R4K 1.000 12 0% 16 37.5% 0 - benign(0) tolerated(1) - NULL LOC100287471 100287471 genome.wustl.edu 37 10 13350291 13350291 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002342961.1 -1 model p.A53T 0.367 19 0.000 8 0.500 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL SEPHS1 22929 genome.wustl.edu 37 10 13370445 13370445 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012247.3 -1 reviewed p.E219D 0.997 166 0% 99 34.3% 73 42.4% benign(0) tolerated(0.33) neutral(0.024) HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like BEND7 222389 genome.wustl.edu 37 10 13534657 13534657 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152751.2 -1 validated p.S212N 0.593 62 0% 37 40.5% 5 60% benign(0) tolerated(0.4) neutral(0.016) NULL BEND7 222389 genome.wustl.edu 37 10 13541788 13541788 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152751.2 -1 validated p.T94 0.000 98 0% 87 41.4% 1 100% - - - NULL MEIG1 644890 genome.wustl.edu 37 10 15008564 15008564 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080836.2 +1 validated p.R33W 1.000 175 0% 71 39.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OLAH 55301 genome.wustl.edu 37 10 15098898 15098898 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018324.2 +1 validated p.P80L 0.009 496 0% 273 43.6% 0 - probably_damaging(0.994) - - HMMPfam_Thioesterase C10orf111 221060 genome.wustl.edu 37 10 15138392 15138392 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153244.1 -1 predicted p.L144 0.001 113 0% 89 40.4% 0 - - - - NULL FAM171A1 221061 genome.wustl.edu 37 10 15256372 15256372 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010924.1 -1 validated p.G405 0.000 21 0% 28 53.6% 14 42.8% - - - HMMPfam_UPF0560 FAM171A1 221061 genome.wustl.edu 37 10 15290670 15290670 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010924.1 -1 validated p.Y241C 1.000 21 0% 12 33.3% 28 53.5% possibly_damaging(0.952) tolerated(0.19) neutral(0.445) HMMPfam_UPF0560 FAM171A1 221061 genome.wustl.edu 37 10 15325920 15325920 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010924.1 -1 validated p.A94 0.998 62 0% 34 55.9% 12 58.3% - - - HMMPfam_UPF0560 CUBN 8029 genome.wustl.edu 37 10 16870890 16870890 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081.3 -1 reviewed p.D3560N 0.996 83 0% 52 48.1% 2 0% probably_damaging(0.99) tolerated(0.64) neutral(0.445) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16882951 16882951 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081.3 -1 reviewed p.T3253 0.650 305 0% 103 43.7% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17130302 17130302 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081.3 -1 reviewed p.S603Y 1.000 150 0% 67 49.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain VIM 7431 genome.wustl.edu 37 10 17271804 17271804 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003380.3 +1 reviewed p.N128T 1.000 5 0.000 14 0.571 987 41.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament VIM 7431 genome.wustl.edu 37 10 17275610 17275610 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003380.3 +1 reviewed p.R217C 1.000 92 0% 45 46.7% 1030 39.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament ST8SIA6 338596 genome.wustl.edu 37 10 17432600 17432600 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004470.1 -1 validated p.S74P 0.146 225 0% 132 39.4% 1 100% benign(0.139) deleterious(0.02) neutral(0.395) NULL STAM 8027 genome.wustl.edu 37 10 17746459 17746459 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003473.2 +1 reviewed p.L314 0.992 213 0% 113 35.4% 7 14.2% - - - NULL CACNB2 783 genome.wustl.edu 37 10 18789754 18789754 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201596.2 +1 reviewed p.D157A 1.000 60 0% 34 23.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain NSUN6 221078 genome.wustl.edu 37 10 18898830 18898830 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182543.2 -1 validated p.P201S 1.000 194 0% 76 43.4% 8 37.5% possibly_damaging(0.616) tolerated(0.33) neutral(0.238) HMMPfam_PUA,superfamily_S-adenosyl-L-methionine-dependent methyltransferases PLXDC2 84898 genome.wustl.edu 37 10 20466340 20466340 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032812.7 +1 provisional e9+2 1.000 202 0% 59 13.6% 0 - - - - - NEBL 10529 genome.wustl.edu 37 10 21157619 21157619 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006393.2 -1 reviewed p.V220M 0.992 358 0% 98 36.7% 0 - benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_Nebulin,HMMSmart_SM00227 NEBL 10529 genome.wustl.edu 37 10 21158710 21158710 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006393.2 -1 reviewed p.D181Y 1.000 254 0% 78 52.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00227 C10orf140 387640 genome.wustl.edu 37 10 21804152 21804152 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207371.3 -1 validated p.A867V 1.000 142 0% 111 49.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MLLT10 8028 genome.wustl.edu 37 10 21884330 21884330 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004641.2 +1 validated p.P122 0.999 354 0% 184 37% 3 66.6% - - - NULL MLLT10 8028 genome.wustl.edu 37 10 22021994 22021994 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004641.2 +1 validated p.I811M 0.000 274 0% 126 34.9% 8 50% benign(0) tolerated(0.15) neutral(0.241) NULL DNAJC1 64215 genome.wustl.edu 37 10 22209855 22209855 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022365.3 -1 provisional p.R137* 1.000 154 0% 72 41.7% 10 0% - - - superfamily_DnaJ_N BMI1 648 genome.wustl.edu 37 10 22615489 22615489 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005180.6 +1 validated p.S37 1.000 191 0% 135 42.2% 21 47.6% - - - HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box BMI1 648 genome.wustl.edu 37 10 22618327 22618327 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005180.6 +1 validated p.V279 0.976 211 0% 146 41.8% 44 34% - - - NULL ARMC3 219681 genome.wustl.edu 37 10 23257235 23257235 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173081.3 +1 validated p.E245* 1.000 168 0% 56 35.7% 1 0% - - - HMMSmart_SM00185,superfamily_ARM repeat C10orf67 256815 genome.wustl.edu 37 10 23633657 23633657 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153714.2 -1 validated p.V17D 0.000 25 0% 20 55% 0 - unknown(0) - - NULL ARHGAP21 57584 genome.wustl.edu 37 10 24874990 24874990 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020824.3 -1 validated p.V1410L 0.682 106 0% 35 57.1% 20 40% probably_damaging(0.967) deleterious(0.04) deleterious(0.758) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24880906 24880906 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418033 -1 known p.H118N 0.742 187 0% 95 13.7% 25 16% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP21 57584 genome.wustl.edu 37 10 24908805 24908805 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020824.3 -1 validated p.P673 0.000 173 0.6% 78 28.2% 15 40% - - - NULL ARHGAP21 57584 genome.wustl.edu 37 10 24909568 24909568 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020824.3 -1 validated p.S419F 0.995 213 0% 100 43% 13 23% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PRTFDC1 56952 genome.wustl.edu 37 10 25231294 25231294 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020200.5 -1 provisional p.E40 0.000 205 0% 96 15.6% 18 11.1% - - - HMMPfam_Pribosyltran,superfamily_PRTase-like THNSL1 79896 genome.wustl.edu 37 10 25313735 25313735 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024838.4 +1 validated p.R528Q 1.000 109 0% 52 38.5% 1 100% probably_damaging(0.999) tolerated(0.22) deleterious(0.532) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes GPR158 57512 genome.wustl.edu 37 10 25701263 25701263 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020752.2 +1 validated p.C399S 1.000 124 0% 85 42.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL GPR158 57512 genome.wustl.edu 37 10 25887383 25887383 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020752.2 +1 validated p.R943I 0.009 111 0% 31 45.2% 0 - possibly_damaging(0.856) deleterious(0.01) deleterious(0.736) NULL GPR158 57512 genome.wustl.edu 37 10 25887995 25887995 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020752.2 +1 validated p.S1147Y 0.010 131 0% 42 45.2% 0 - possibly_damaging(0.835) tolerated(0.41) neutral(0.334) NULL MYO3A 53904 genome.wustl.edu 37 10 26243817 26243817 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017433.4 +1 reviewed p.E61D 1.000 211 0% 56 37.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYO3A 53904 genome.wustl.edu 37 10 26285483 26285483 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017433.4 +1 reviewed p.S123I 0.980 396 0% 108 41.7% 0 - possibly_damaging(0.819) tolerated(0.11) deleterious(0.581) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYO3A 53904 genome.wustl.edu 37 10 26315318 26315318 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017433.4 +1 reviewed p.K270N 1.000 186 0% 88 40.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYO3A 53904 genome.wustl.edu 37 10 26414347 26414347 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017433.4 +1 reviewed p.R642W 1.000 182 0% 54 40.7% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26417456 26417456 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017433.4 +1 reviewed p.A751T 0.996 158 0.6% 52 38.5% 0 - benign(0.007) tolerated(0.4) neutral(0.016) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26434441 26434441 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017433.4 +1 reviewed p.G828E 1.000 330 0% 84 41.7% 0 - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26457725 26457725 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017433.4 +1 reviewed p.V1066I 1.000 465 0% 141 39.7% 0 - possibly_damaging(0.678) tolerated(0.19) neutral(0.291) HMMSmart_IQ,superfamily_SSF52540 GAD2 2572 genome.wustl.edu 37 10 26518611 26518611 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000818.2 +1 reviewed p.Y249H 1.000 131 0% 69 13% 0 - possibly_damaging(0.887) deleterious(0) deleterious(0.791) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases APBB1IP 54518 genome.wustl.edu 37 10 26800807 26800807 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019043.3 +1 validated p.L221 0.996 118 0% 55 20% 2 0% - - - HMMPfam_RA,HMMSmart_RA APBB1IP 54518 genome.wustl.edu 37 10 26822418 26822418 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019043.3 +1 validated p.E288D 1.000 364 0% 123 38.2% 1 0% benign(0.144) tolerated(0.36) neutral(0.033) NULL ABI1 10006 genome.wustl.edu 37 10 27149700 27149700 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005470.3 -1 validated p.D31 1.000 58 0% 69 50.7% 31 54.8% - - - NULL ANKRD26 22852 genome.wustl.edu 37 10 27324072 27324072 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014915.2 -1 validated p.Q1103K 0.026 120 0% 70 48.6% 4 25% possibly_damaging(0.749) deleterious(0.03) deleterious(0.639) NULL ANKRD26 22852 genome.wustl.edu 37 10 27366266 27366266 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014915.2 -1 validated e9+1 0.962 274 0% 124 40.3% 0 - - - - - YME1L1 10730 genome.wustl.edu 37 10 27425249 27425249 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139312.1 -1 reviewed p.E223K 1.000 315 0% 150 45.3% 49 30.6% benign(0.277) tolerated(0.19) neutral(0.079) NULL MASTL 84930 genome.wustl.edu 37 10 27448625 27448625 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032844.3 +1 reviewed p.V134 0.934 196 0% 106 45.3% 9 33.3% - - - superfamily_Kinase_like,HMMPfam_Pkinase PTCHD3 374308 genome.wustl.edu 37 10 27687822 27687822 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001034842.3 -1 validated p.P569S 0.001 224 0% 100 11% 0 - benign(0.29) tolerated(0.77) neutral(0.090) HMMPfam_Patched LYZL1 84569 genome.wustl.edu 37 10 29599087 29599087 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032517.4 +1 validated p.I162S 0.981 372 0% 227 46.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 LYZL1 84569 genome.wustl.edu 37 10 29599959 29599959 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032517.4 +1 validated p.E186K 0.972 181 0% 115 40.9% 0 - benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 SVIL 6840 genome.wustl.edu 37 10 29779853 29779853 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021738.2 -1 reviewed p.E1372G 1.000 128 0% 65 15.4% 17 29.4% benign(0.208) deleterious(0) neutral(0.465) NULL SVIL 6840 genome.wustl.edu 37 10 29812749 29812749 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021738.2 -1 reviewed p.Q932* 1.000 262 0% 166 12.7% 22 13.6% - - - NULL SVIL 6840 genome.wustl.edu 37 10 29812767 29812767 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021738.2 -1 reviewed p.L926 1.000 236 0% 151 42.4% 23 34.7% - - - NULL SVIL 6840 genome.wustl.edu 37 10 29839762 29839762 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021738.2 -1 reviewed p.E197 0.307 43 0% 28 53.6% 28 46.4% - - - NULL KIAA1462 57608 genome.wustl.edu 37 10 30315908 30315908 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020848.2 -1 validated p.Q1057* 0.000 30 0% 34 50% 0 - - - - NULL KIAA1462 57608 genome.wustl.edu 37 10 30336521 30336521 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020848.2 -1 validated p.S74I 0.000 18 0% 13 53.8% 2 0% benign(0.179) tolerated(0.41) neutral(0.032) NULL MTPAP 55149 genome.wustl.edu 37 10 30625940 30625940 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018109.3 -1 validated p.N191S 0.072 118 0% 61 34.4% 13 7.6% benign(0.022) tolerated(0.66) neutral(0.004) superfamily_Nucleotidyltransferase LYZL2 119180 genome.wustl.edu 37 10 30915092 30915092 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183058.2 -1 validated p.F126 0.019 58 0% 37 45.9% 0 - - - - HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 ZEB1 6935 genome.wustl.edu 37 10 31810367 31810367 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030751.5 +1 reviewed p.T702A 0.689 103 0% 42 40.5% 5 0% benign(0) tolerated(0.17) neutral(0.059) NULL ARHGAP12 94134 genome.wustl.edu 37 10 32097674 32097674 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018287.5 -1 provisional p.E757* 1.000 246 0% 119 44.5% 11 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP12 94134 genome.wustl.edu 37 10 32098030 32098030 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018287.5 -1 provisional p.K719Q 1.000 330 0% 148 49.3% 8 25% probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP KIF5B 3799 genome.wustl.edu 37 10 32323743 32323743 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004521.2 -1 validated p.V329A 1.000 365 0% 151 39.1% 44 45.4% possibly_damaging(0.532) tolerated(0.46) neutral(0.192) HMMSmart_KISc CCDC7 221016 genome.wustl.edu 37 10 32740683 32740683 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001026383.1 +1 validated p.K38T 0.024 235 0% 95 38.9% 1 0% possibly_damaging(0.919) deleterious(0) deleterious(0.814) NULL C10orf68 79741 genome.wustl.edu 37 10 33017904 33017904 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024688.2 +1 validated p.S227A 0.000 239 0% 75 42.7% 1 0% benign(0.029) tolerated(0.1) neutral(0.288) NULL ITGB1 3688 genome.wustl.edu 37 10 33197297 33197297 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033667.2 -1 reviewed p.T777M 1.000 500 0% 166 10.8% 224 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Integrin_b_cyt ITGB1 3688 genome.wustl.edu 37 10 33197403 33197403 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033667.2 -1 reviewed p.L742I 1.000 316 0% 116 42.2% 259 36.6% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) NULL PARD3 56288 genome.wustl.edu 37 10 34636988 34636988 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019619.3 -1 validated p.D708G 1.000 126 0% 49 55.1% 29 48.2% possibly_damaging(0.736) deleterious(0.02) deleterious(0.652) NULL CREM 1390 genome.wustl.edu 37 10 35500597 35500597 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181571.1 +1 reviewed p.E257* 1.000 164 0% 121 46.3% 19 42.1% - - - HMMSmart_SM00338,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1 CCNY 219771 genome.wustl.edu 37 10 35855027 35855027 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145012.4 +1 validated p.Y275H 1.000 66 0% 39 51.3% 98 47.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NAMPTL 646309 genome.wustl.edu 37 10 36811810 36811810 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000440465 -1 known p.S451R 0.050 393 0% 276 14.9% 29 0% benign(0.001) tolerated(0.06) neutral(0.323) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37430875 37430875 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052997.2 +1 validated p.F294 0.002 142 0% 94 46.8% 0 - - - - NULL ANKRD30A 91074 genome.wustl.edu 37 10 37436342 37436342 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052997.2 +1 validated p.E444 0.001 282 0% 56 35.7% 0 - - - - NULL ANKRD30A 91074 genome.wustl.edu 37 10 37438600 37438600 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052997.2 +1 validated p.A466V 0.006 966 0% 359 43.2% 0 - benign(0.355) tolerated(0.09) neutral(0.409) NULL ZNF33A 7581 genome.wustl.edu 37 10 38344024 38344024 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006954.1 +1 validated p.K324N 0.998 188 0% 60 43.3% 6 50% possibly_damaging(0.935) tolerated(0.1) deleterious(0.667) superfamily_C2H2 and C2HC zinc fingers ZNF33A 7581 genome.wustl.edu 37 10 38345104 38345104 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006954.1 +1 validated p.E684D 0.994 339 0% 110 39.1% 13 38.4% benign(0.287) tolerated(0.07) neutral(0.407) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF33A 7581 genome.wustl.edu 37 10 38345115 38345115 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006954.1 +1 validated p.T688M 1.000 334 0% 114 43% 12 66.6% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) superfamily_C2H2 and C2HC zinc fingers CCNYL2 414194 genome.wustl.edu 37 10 42965605 42965605 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000345581 -1 known p.T17P 0.965 37 0% 29 34.5% 0 - - - - NULL ZNF33B 7582 genome.wustl.edu 37 10 43088309 43088309 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006955.1 -1 provisional p.E697* 0.022 351 0% 131 48.1% 10 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF33B 7582 genome.wustl.edu 37 10 43089423 43089423 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006955.1 -1 provisional p.G325 1.000 204 0% 78 47.4% 2 50% - - - superfamily_SSF57667 BMS1 9790 genome.wustl.edu 37 10 43293961 43293961 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014753.3 +1 reviewed p.L712P 1.000 302 0% 152 46.7% 14 50% probably_damaging(0.992) tolerated(0.08) deleterious(0.748) superfamily_P-loop containing nucleoside triphosphate hydrolases BMS1 9790 genome.wustl.edu 37 10 43312116 43312116 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014753.3 +1 reviewed p.T800N 0.915 185 0% 127 47.2% 19 52.6% benign(0.01) tolerated(0.45) neutral(0.013) NULL BMS1 9790 genome.wustl.edu 37 10 43316032 43316032 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014753.3 +1 reviewed p.R949M 1.000 33 0% 40 45% 21 47.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF663 RET 5979 genome.wustl.edu 37 10 43604667 43604667 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020975.4 +1 reviewed p.R418* 0.022 22 0% 19 31.6% 0 - - - - NULL RET 5979 genome.wustl.edu 37 10 43609968 43609968 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020975.4 +1 reviewed p.A640 0.000 15 0% 24 50% 1 100% - - - NULL RET 5979 genome.wustl.edu 37 10 43615117 43615117 + Missense_Mutation SNP G G A rs55947360 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020975.4 +1 reviewed p.R844Q 1.000 12 0% 20 55% 1 0% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like CSGALNACT2 55454 genome.wustl.edu 37 10 43650679 43650679 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018590.3 +1 provisional p.F28L 0.653 192 0% 119 37.8% 1 100% benign(0) tolerated(1) - NULL RASGEF1A 221002 genome.wustl.edu 37 10 43701549 43701549 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145313.2 -1 validated p.V6I 0.322 26 0% 31 54.8% 0 - possibly_damaging(0.767) tolerated(0.78) neutral(0.285) NULL HNRNPF 3185 genome.wustl.edu 37 10 43882693 43882693 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098204.1 -1 reviewed p.G214R 0.991 34 2.9% 33 54.5% 334 44.9% benign(0.132) tolerated(0.24) neutral(0.049) NULL HNRNPF 3185 genome.wustl.edu 37 10 43882993 43882993 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098204.1 -1 reviewed p.R114W 0.991 84 1.2% 87 41.4% 229 47.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CXCL12 6387 genome.wustl.edu 37 10 44876232 44876232 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033886.2 -1 reviewed p.P53L 0.898 206 0% 113 35.4% 3 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 ZNF22 7570 genome.wustl.edu 37 10 45498974 45498974 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006963.4 +1 validated p.K53R 0.987 104 0% 50 24% 18 5.5% benign(0.016) tolerated(0.27) neutral(0.034) superfamily_C2H2 and C2HC zinc fingers ZFAND4 93550 genome.wustl.edu 37 10 46159042 46159042 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128324.1 -1 validated p.V44 1.000 217 0.5% 116 40.5% 5 20% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like FAM21C 253725 genome.wustl.edu 37 10 46280018 46280018 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015262.2 +1 validated p.C826 0.001 208 0% 147 38.8% 12 41.6% - - - NULL SYT15 83849 genome.wustl.edu 37 10 46968641 46968641 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031912.3 -1 reviewed p.A99T 0.005 14 0% 19 31.6% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL GPRIN2 9721 genome.wustl.edu 37 10 46999884 46999884 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014696.3 +1 validated p.A335D 1.000 17 0% 22 27.3% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL GPRIN2 9721 genome.wustl.edu 37 10 47000007 47000007 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014696.3 +1 validated p.P376L 0.008 47 0% 59 25.4% 0 - possibly_damaging(0.483) tolerated(0.32) neutral(0.184) NULL ASAH2C 653365 genome.wustl.edu 37 10 48032987 48032987 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000426610 -1 known p.Q180* 0.712 242 0% 89 39.3% 0 - - - - HMMPfam_Ceramidase_alk GDF2 2658 genome.wustl.edu 37 10 48414022 48414022 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016204.1 -1 reviewed p.S282 0.000 42 0% 45 51.1% 0 - - - - NULL PTPN20C 653045 genome.wustl.edu 37 10 49313222 49313222 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000316733 -1 known p.Q106H 0.000 144 0% 32 15.6% 0 - probably_damaging(0.961) deleterious(0.03) deleterious(0.768) NULL FRMPD2 143162 genome.wustl.edu 37 10 49371421 49371421 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001018071.3 -1 reviewed p.K1277N 0.956 439 0% 169 27.8% 1 0% possibly_damaging(0.669) deleterious(0) deleterious(0.681) NULL FRMPD2 143162 genome.wustl.edu 37 10 49386161 49386161 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001018071.3 -1 reviewed p.E942* 0.108 352 0.3% 120 36.7% 0 - - - - superfamily_PDZ domain-like FRMPD2 143162 genome.wustl.edu 37 10 49448489 49448489 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001018071.3 -1 reviewed p.R205I 0.999 24 0% 16 56.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP22 58504 genome.wustl.edu 37 10 49663093 49663093 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021226.2 -1 validated p.Y248 0.047 17 0% 19 36.8% 2 50% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP WDFY4 57705 genome.wustl.edu 37 10 49937632 49937632 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020945.1 +1 validated p.S376Y 0.220 70 0% 38 50% 0 - possibly_damaging(0.762) deleterious(0.01) deleterious(0.688) superfamily_ARM repeat WDFY4 57705 genome.wustl.edu 37 10 49998883 49998883 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020945.1 +1 validated p.A1393V 0.998 60 0% 39 38.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL WDFY4 57705 genome.wustl.edu 37 10 50154164 50154164 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020945.1 +1 validated p.K2610T 1.000 226 0% 91 44% 2 0% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_Beach,superfamily_BEACH domain WDFY4 57705 genome.wustl.edu 37 10 50178213 50178213 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020945.1 +1 validated p.R2936H 0.814 29 0% 30 40% 0 - possibly_damaging(0.937) deleterious(0.01) deleterious(0.788) HMMSmart_SM00320,superfamily_WD40 repeat-like FAM170B 170370 genome.wustl.edu 37 10 50339820 50339820 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000311787 -1 known p.G230 1.000 17 0% 29 48.3% 0 - - - - NULL FAM170B 170370 genome.wustl.edu 37 10 50339904 50339904 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000311787 -1 known p.Y202 0.000 11 0% 16 50% 0 - - - - NULL ERCC6 2074 genome.wustl.edu 37 10 50682119 50682119 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000124.2 -1 reviewed p.W851L 1.000 202 0% 83 37.3% 5 20% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_SSF52540 PGBD3 267004 genome.wustl.edu 37 10 50723611 50723611 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170753.2 -1 validated p.R517Q 0.024 130 0% 59 45.8% 2 100% probably_damaging(1) tolerated(0.37) deleterious(0.519) NULL PGBD3 267004 genome.wustl.edu 37 10 50723721 50723721 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170753.2 -1 validated p.K480N 0.991 105 0% 51 60.8% 3 33.3% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL PGBD3 267004 genome.wustl.edu 37 10 50725153 50725153 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170753.2 -1 validated p.R3Q 0.995 127 0% 37 45.9% 2 50% benign(0.008) deleterious(0) neutral(0.445) NULL SLC18A3 6572 genome.wustl.edu 37 10 50818906 50818906 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003055.2 +1 reviewed p.C40 1.000 11 0% 11 36.4% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC18A3 6572 genome.wustl.edu 37 10 50819229 50819229 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003055.2 +1 reviewed p.R148H 1.000 17 0% 14 28.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_MFS_1,superfamily_MFS general substrate transporter PARG 8505 genome.wustl.edu 37 10 51130466 51130466 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003631.2 -1 reviewed e6-1 1.000 355 0% 149 12.1% 0 - - - - - NCOA4 8031 genome.wustl.edu 37 10 51580940 51580940 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145260.1 +1 reviewed p.A131T 1.000 491 0% 253 41.5% 67 56.7% probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL FAM21A 387680 genome.wustl.edu 37 10 51829402 51829402 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005751.1 +1 validated p.A74 1.000 439 0% 262 45% 14 21.4% - - - NULL CSTF2T 23283 genome.wustl.edu 37 10 53457986 53457986 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015235.2 -1 validated p.A442T 0.008 166 0% 96 13.5% 31 6.4% possibly_damaging(0.905) deleterious(0) deleterious(0.804) NULL CSTF2T 23283 genome.wustl.edu 37 10 53458692 53458692 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015235.2 -1 validated p.Q206 0.426 84 0% 59 13.6% 14 0% - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55581630 55581630 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142763.1 -1 reviewed p.S1959 0.998 491 0% 198 42.4% 0 - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55582303 55582303 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142763.1 -1 reviewed p.R1735I 0.000 88 0% 58 41.4% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL TFAM 7019 genome.wustl.edu 37 10 60146031 60146031 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000395377 +1 known p.E33* 1.000 631 0% 347 40.9% 15 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box BICC1 80114 genome.wustl.edu 37 10 60558967 60558967 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080512.1 +1 reviewed p.Q560 0.998 84 0% 23 43.5% 5 40% - - - NULL BICC1 80114 genome.wustl.edu 37 10 60566874 60566874 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080512.1 +1 reviewed p.A778T 1.000 121 0% 42 33.3% 10 60% probably_damaging(0.959) tolerated(0.22) neutral(0.445) NULL FAM13C 220965 genome.wustl.edu 37 10 61115669 61115669 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000442566 -1 known p.Q55K 1.000 168 0.6% 77 44.2% 4 25% benign(0.025) tolerated(0.14) neutral(0.251) NULL ANK3 288 genome.wustl.edu 37 10 61815564 61815564 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020987.2 -1 reviewed p.S4306F 1.000 467 0% 204 15.7% 5 0% benign(0.314) deleterious(0) deleterious(0.542) NULL ENSG00000232682 0 genome.wustl.edu 37 10 61815769 61815769 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000414383 +1 known NULL 1.000 198 0% 88 39.8% 7 42.8% benign(0.062) deleterious(0) neutral(0.449) - ANK3 288 genome.wustl.edu 37 10 61819478 61819478 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000514197 -1 known p.A197V 1.000 123 0% 52 44.2% 11 27.2% - - - NULL ANK3 288 genome.wustl.edu 37 10 61829870 61829870 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020987.2 -1 reviewed p.D3590G 1.000 302 0% 134 44.8% 1 100% probably_damaging(0.976) - - NULL ANK3 288 genome.wustl.edu 37 10 61834574 61834574 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020987.2 -1 reviewed p.A2022D 0.957 120 0% 52 46.2% 0 - benign(0.013) - - NULL ANK3 288 genome.wustl.edu 37 10 61835783 61835783 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020987.2 -1 reviewed p.T1619M 0.076 66 0% 34 50% 0 - possibly_damaging(0.943) - - NULL ANK3 288 genome.wustl.edu 37 10 61836047 61836047 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020987.2 -1 reviewed p.T1531M 1.000 205 0% 78 42.3% 0 - probably_damaging(0.999) - - NULL ANK3 288 genome.wustl.edu 37 10 61844443 61844443 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020987.2 -1 reviewed p.F1331I 1.000 208 0% 69 37.7% 4 0% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) NULL ANK3 288 genome.wustl.edu 37 10 61844449 61844449 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020987.2 -1 reviewed p.R1329* 1.000 199 0% 70 21.4% 3 66.6% - - - NULL RHOBTB1 9886 genome.wustl.edu 37 10 62632025 62632025 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014836.4 -1 reviewed p.A613 0.941 171 0% 71 43.7% 20 30% - - - NULL ZNF365 22891 genome.wustl.edu 37 10 64136240 64136240 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199451.2 +1 reviewed p.P96 0.001 108 0% 82 39% 0 - - - - NULL EGR2 1959 genome.wustl.edu 37 10 64573654 64573654 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000399.3 -1 reviewed p.P248 1.000 37 0% 45 44.4% 5 60% - - - NULL JMJD1C 221037 genome.wustl.edu 37 10 64943219 64943219 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032776.1 -1 validated p.L2358I 0.999 313 0% 136 45.6% 13 53.8% possibly_damaging(0.811) tolerated(0.2) neutral(0.354) HMMSmart_SM00558 CTNNA3 29119 genome.wustl.edu 37 10 68526128 68526128 + Missense_Mutation SNP G G A rs146777494 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127384.1 -1 validated p.T392M 1.000 280 0% 78 53.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin LRRTM3 347731 genome.wustl.edu 37 10 68687469 68687469 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178011.3 +1 validated p.I265 0.545 47 0% 30 63.3% 0 - - - - HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like LRRTM3 347731 genome.wustl.edu 37 10 68687726 68687726 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178011.3 +1 validated p.V351A 1.000 87 0% 64 31.2% 0 - possibly_damaging(0.67) deleterious(0) deleterious(0.682) NULL SIRT1 23411 genome.wustl.edu 37 10 69676051 69676051 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142498.1 +1 reviewed p.R354C 1.000 178 0.6% 92 47.8% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYPN 84665 genome.wustl.edu 37 10 69881450 69881450 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032578.2 +1 validated p.Y85 0.016 44 0% 32 46.9% 0 - - - - NULL RUFY2 55680 genome.wustl.edu 37 10 70123348 70123348 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017987.4 -1 validated p.E552K 1.000 203 0% 106 39.6% 5 60% benign(0.014) tolerated(0.66) neutral(0.003) NULL DNA2 1763 genome.wustl.edu 37 10 70190383 70190383 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080449.1 -1 provisional p.L759S 1.000 213 0% 121 47.1% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases TET1 80312 genome.wustl.edu 37 10 70333930 70333930 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030625.2 +1 validated p.R612I 0.988 76 0% 36 44.4% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-CXXC TET1 80312 genome.wustl.edu 37 10 70404720 70404720 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030625.2 +1 validated p.R745Q 0.000 144 0% 62 37.1% 3 100% benign(0.012) tolerated(0.92) neutral(0.001) NULL TET1 80312 genome.wustl.edu 37 10 70406057 70406057 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030625.2 +1 validated p.I1191L 0.538 122 0% 53 45.3% 3 33.3% benign(0.232) tolerated(0.1) neutral(0.309) NULL TET1 80312 genome.wustl.edu 37 10 70442624 70442624 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030625.2 +1 validated p.R1649Q 1.000 210 0.5% 91 44% 18 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TET1 80312 genome.wustl.edu 37 10 70451439 70451439 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030625.2 +1 validated p.E2093 0.000 136 0% 79 53.2% 12 66.6% - - - NULL CCAR1 55749 genome.wustl.edu 37 10 70516082 70516082 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018237.2 +1 validated p.R560C 1.000 163 0% 126 45.2% 45 55.5% unknown(0) deleterious(0.01) - NULL STOX1 219736 genome.wustl.edu 37 10 70646374 70646374 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130161.2 +1 reviewed p.R941Q 1.000 50 0% 22 40.9% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DDX21 9188 genome.wustl.edu 37 10 70728863 70728863 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004728.2 +1 reviewed p.A408T 1.000 367 0% 207 45.4% 33 51.5% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA1279 26128 genome.wustl.edu 37 10 70760280 70760280 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015634.3 +1 reviewed e2+2 1.000 182 0% 78 44.9% 1 0% - - - - HKDC1 80201 genome.wustl.edu 37 10 70987108 70987108 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025130.3 +1 validated p.A70V 1.000 23 0% 28 17.9% 5 0% benign(0.141) deleterious(0.01) neutral(0.418) HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain HKDC1 80201 genome.wustl.edu 37 10 71007256 71007256 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025130.3 +1 validated p.A391V 1.000 30 0% 18 33.3% 4 25% benign(0.275) tolerated(0.22) neutral(0.072) HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain HK1 3098 genome.wustl.edu 37 10 71119661 71119661 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033497.2 +1 reviewed p.D83N 1.000 99 0% 80 15% 51 21.5% possibly_damaging(0.88) tolerated(0.13) deleterious(0.596) HMMPfam_Hexokinase_1,superfamily_SSF53067 HK1 3098 genome.wustl.edu 37 10 71144199 71144199 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033497.2 +1 reviewed p.A565T 0.998 105 0% 51 37.3% 71 43.6% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Hexokinase_1,superfamily_SSF53067 COL13A1 1305 genome.wustl.edu 37 10 71640298 71640298 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130103.1 +1 reviewed p.R159C 0.983 59 0% 74 52.7% 2 50% probably_damaging(1) - - HMMPfam_Collagen COL13A1 1305 genome.wustl.edu 37 10 71658462 71658462 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130103.1 +1 reviewed p.L242I 1.000 140 0% 121 43% 2 0% possibly_damaging(0.747) - - NULL SAR1A 56681 genome.wustl.edu 37 10 71913610 71913610 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142648.1 -1 validated p.G155V 1.000 600 0.2% 263 35% 153 35.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA1274 27143 genome.wustl.edu 37 10 72292376 72292376 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014431.2 +1 validated e5-1 1.000 16 0% 21 42.9% 0 - - - - - KIAA1274 27143 genome.wustl.edu 37 10 72294246 72294246 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014431.2 +1 validated p.R363H 0.000 39 0% 46 43.5% 1 0% benign(0) tolerated(0.16) neutral(0.059) NULL PRF1 5551 genome.wustl.edu 37 10 72358087 72358087 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083116.1 -1 reviewed p.R464W 0.000 30 0% 33 48.5% 8 0% benign(0.045) deleterious(0.02) neutral(0.386) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PRF1 5551 genome.wustl.edu 37 10 72358727 72358727 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083116.1 -1 reviewed p.T250 0.000 34 0% 35 31.4% 11 0% - - - HMMPfam_MACPF,HMMSmart_SM00457 PRF1 5551 genome.wustl.edu 37 10 72360364 72360364 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083116.1 -1 reviewed p.G99C 0.000 6 0.000 16 0.375 5 0% probably_damaging(0.988) tolerated(0.14) deleterious(0.687) NULL ADAMTS14 140766 genome.wustl.edu 37 10 72462081 72462081 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139155.2 +1 reviewed p.R179H 1.000 14 0% 14 57.1% 0 - possibly_damaging(0.949) tolerated(0.12) deleterious(0.653) HMMPfam_Pep_M12B_propep ADAMTS14 140766 genome.wustl.edu 37 10 72468517 72468517 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139155.2 +1 reviewed p.L285F 1.000 28 0% 21 33.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Reprolysin,superfamily_SSF55486 ADAMTS14 140766 genome.wustl.edu 37 10 72517720 72517720 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139155.2 +1 reviewed p.C983* 1.000 28 0% 17 41.2% 0 - - - - HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 ADAMTS14 140766 genome.wustl.edu 37 10 72520170 72520170 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139155.2 +1 reviewed p.R1081H 1.000 21 0% 21 52.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ADAMTS14 140766 genome.wustl.edu 37 10 72520413 72520413 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139155.2 +1 reviewed p.S1162F 0.024 32 0% 35 37.1% 0 - possibly_damaging(0.708) deleterious(0.01) deleterious(0.661) NULL C10orf27 219793 genome.wustl.edu 37 10 72532304 72532304 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152710.2 -1 validated p.T312 0.000 624 0% 292 51% 0 - - - - NULL C10orf27 219793 genome.wustl.edu 37 10 72541755 72541755 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152710.2 -1 validated p.R27C 0.000 36 0% 35 45.7% 0 - benign(0.003) tolerated(0.15) neutral(0.241) NULL PCBD1 5092 genome.wustl.edu 37 10 72645599 72645599 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000281.2 -1 reviewed p.R31C 0.998 113 0% 70 32.9% 166 39.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pterin_4a,superfamily_Pterin-4a-carbinolamine dehydratase (PCD)/dimerization cofactor of HNF1 (DCoH) SLC29A3 55315 genome.wustl.edu 37 10 73115864 73115864 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000373189 +1 known p.A213T 0.997 27 0% 24 20.8% 10 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nucleoside_tran CDH23 64072 genome.wustl.edu 37 10 73330637 73330637 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022124.5 +1 reviewed p.L239 1.000 109 0% 70 40% 2 0% - - - superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73437409 73437409 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022124.5 +1 reviewed p.R571W 0.941 14 7.1% 18 38.9% 3 66.6% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Cadherin,superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73491982 73491982 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022124.5 +1 reviewed p.Y1318 0.681 21 0% 33 51.5% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73500627 73500627 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022124.5 +1 reviewed p.L1513 1.000 37 0% 39 53.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SPOCK2 9806 genome.wustl.edu 37 10 73822856 73822856 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014767.2 -1 validated p.S352 0.111 15 0% 16 50% 9 0% - - - HMMPfam_Thyroglobulin_1,HMMSmart_TY,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin_1 SPOCK2 9806 genome.wustl.edu 37 10 73827463 73827463 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014767.2 -1 validated p.D206G 1.000 10 0% 12 50% 12 0% possibly_damaging(0.888) tolerated(0.19) neutral(0.397) HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473 ASCC1 51008 genome.wustl.edu 37 10 73857142 73857142 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015947.2 -1 validated p.V342I 0.978 208 0% 94 21.3% 14 7.1% benign(0) tolerated(0.19) neutral(0.050) NULL ASCC1 51008 genome.wustl.edu 37 10 73973043 73973043 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015947.2 -1 validated p.R5H 1.000 394 0% 261 50.2% 8 50% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL DNAJB12 54788 genome.wustl.edu 37 10 74100756 74100756 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002762.2 -1 validated p.G244 0.954 32 0% 49 42.9% 38 47.3% - - - superfamily_Chaperone J-domain MCU 90550 genome.wustl.edu 37 10 74619001 74619001 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138357.1 +1 provisional p.R96H 1.000 306 0.3% 143 48.3% 17 70.5% benign(0.381) tolerated(0.48) neutral(0.132) NULL OIT3 170392 genome.wustl.edu 37 10 74684093 74684093 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152635.1 +1 provisional p.P353L 1.000 20 0% 14 28.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Zona_pellucida,HMMSmart_SM00241 PLA2G12B 84647 genome.wustl.edu 37 10 74714297 74714297 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032562.2 -1 validated p.Y49 1.000 63 0% 36 19.4% 0 - - - - HMMPfam_PLA2G12 P4HA1 5033 genome.wustl.edu 37 10 74806754 74806754 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000917.3 -1 reviewed p.R336C 1.000 314 0% 156 42.3% 66 46.9% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMSmart_SM00702 ECD 11319 genome.wustl.edu 37 10 74894303 74894303 + RNA SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_024203.1 -1 validated NULL 0.213 70 0% 26 38.5% 2 50% - - - - FAM149B1 317662 genome.wustl.edu 37 10 74937685 74937685 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000372955 +1 known p.A19V 1.000 232 0% 151 40.4% 5 20% - - - NULL TTC18 118491 genome.wustl.edu 37 10 75107989 75107989 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145170.3 -1 validated p.Q118H 0.075 147 0.7% 78 53.8% 0 - benign(0.314) deleterious(0.01) deleterious(0.504) NULL ANXA7 310 genome.wustl.edu 37 10 75135945 75135945 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004034.2 -1 reviewed p.A459T 0.000 159 0% 62 46.8% 91 45% benign(0) tolerated(0.59) neutral(0.004) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 USP54 159195 genome.wustl.edu 37 10 75290129 75290129 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152586.3 -1 provisional p.G534S 0.686 232 0% 137 46% 11 36.3% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL SYNPO2L 79933 genome.wustl.edu 37 10 75407136 75407136 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114133.1 -1 validated p.G758 0.997 11 0% 22 40.9% 0 - - - - NULL SYNPO2L 79933 genome.wustl.edu 37 10 75412978 75412978 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114133.1 -1 validated p.L231I 1.000 27 0% 26 53.8% 0 - benign(0.388) deleterious(0) deleterious(0.569) NULL SYNPO2L 79933 genome.wustl.edu 37 10 75413976 75413976 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114133.1 -1 validated p.I56 1.000 54 0% 37 43.2% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like AGAP5 729092 genome.wustl.edu 37 10 75435178 75435178 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144000.1 -1 validated p.V414M 1.000 23 0% 21 38.1% 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SEC24C 9632 genome.wustl.edu 37 10 75529694 75529694 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004922.2 +1 reviewed p.R928H 1.000 118 0% 87 47.1% 120 40.8% probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_Sec23_helical,superfamily_Helical domain of Sec23/24 NDST2 8509 genome.wustl.edu 37 10 75564577 75564577 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003635.3 -1 reviewed p.T599 0.972 159 0% 99 49.5% 7 57.1% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases VCL 7414 genome.wustl.edu 37 10 75864808 75864808 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014000.2 +1 reviewed e16-1 1.000 29 0% 14 50% 5 100% - - - - VCL 7414 genome.wustl.edu 37 10 75873970 75873970 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014000.2 +1 reviewed p.R993H 1.000 20 0% 10 40% 57 47.3% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin ADK 132 genome.wustl.edu 37 10 76153949 76153949 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006721.2 +1 reviewed p.G108 0.000 253 0.4% 88 40.9% 39 48.7% - - - HMMPfam_PfkB,superfamily_Ribokinase-like KAT6B 23522 genome.wustl.edu 37 10 76790093 76790093 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012330.2 +1 validated p.S1837 0.998 138 0% 110 50.9% 30 43.3% - - - NULL DUSP13 51207 genome.wustl.edu 37 10 76855504 76855504 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007273.1 -1 reviewed p.V168I 0.007 30 0% 46 43.5% 0 - benign(0.002) tolerated(0.46) neutral(0.012) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II DLG5 9231 genome.wustl.edu 37 10 79616543 79616543 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004747.3 -1 reviewed p.N161D 1.000 12 0% 15 40% 20 55% unknown(0) tolerated(1) - HMMPfam_DUF622 ZMIZ1 57178 genome.wustl.edu 37 10 81065963 81065963 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020338.3 +1 validated p.R844W 1.000 31 0% 15 40% 26 34.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPIF 10105 genome.wustl.edu 37 10 81112146 81112146 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000448165 +1 known p.T126I 0.987 57 0% 32 37.5% 120 50% - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like PPIF 10105 genome.wustl.edu 37 10 81113527 81113527 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005729.3 +1 reviewed p.E185* 1.000 91 0% 49 40.8% 125 55.2% - - - HMMPfam_Pro_isomerase,superfamily_CSA_PPIase ZCCHC24 219654 genome.wustl.edu 37 10 81154182 81154182 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000372333 -1 known p.R95* 0.269 52 0% 56 50% 5 60% - - - NULL EIF5AL1 143244 genome.wustl.edu 37 10 81272433 81272433 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099692.1 +1 validated p.G10* 0.936 66 0% 84 22.6% 72 0% - - - NULL SFTPD 6441 genome.wustl.edu 37 10 81700463 81700463 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003019.4 -1 validated p.K250T 1.000 41 0% 19 42.1% 0 - possibly_damaging(0.629) - - HMMPfam_Surfac_D-trimer PLAC9 219348 genome.wustl.edu 37 10 81901916 81901916 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012973.1 +1 provisional p.R48H 0.020 51 0% 46 39.1% 1 0% probably_damaging(0.986) - - NULL DYDC2 84332 genome.wustl.edu 37 10 82126561 82126561 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032372.4 +1 provisional p.P130S 0.000 105 0% 47 34% 0 - benign(0.093) tolerated(0.21) neutral(0.051) NULL LRIT2 340745 genome.wustl.edu 37 10 85984584 85984584 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017924.2 -1 validated p.D133N 1.000 50 0% 32 65.6% 0 - probably_damaging(0.993) deleterious(0.03) deleterious(0.815) superfamily_SSF52058 LRIT1 26103 genome.wustl.edu 37 10 85992259 85992259 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015613.2 -1 validated p.R432 0.905 21 0% 18 44.4% 0 - - - - HMMPfam_fn3,HMMSmart_FN3 LRIT1 26103 genome.wustl.edu 37 10 85992314 85992314 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015613.2 -1 validated p.A414D 0.000 18 0% 16 56.2% 0 - possibly_damaging(0.492) tolerated(0.06) deleterious(0.487) NULL RGR 5995 genome.wustl.edu 37 10 86017730 86017730 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002921.3 +1 reviewed p.D242Y 0.179 38 0% 20 40% 2 50% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM190B 54462 genome.wustl.edu 37 10 86131991 86131991 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018999.2 +1 validated p.D395Y 1.000 260 0% 90 40% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GRID1 2894 genome.wustl.edu 37 10 87362312 87362312 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000327946 -1 known p.R699Q 0.000 22 0% 30 46.7% 2 50% - - - NULL GRID1 2894 genome.wustl.edu 37 10 87379739 87379739 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017551.2 -1 reviewed p.A749T 1.000 42 0% 18 33.3% 1 0% probably_damaging(1) tolerated(0.4) deleterious(0.516) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II WAPAL 23063 genome.wustl.edu 37 10 88221024 88221024 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015045.2 -1 validated p.E797D 1.000 218 0% 110 41.8% 15 53.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_WAPL,superfamily_ARM repeat C10orf116 10974 genome.wustl.edu 37 10 88729999 88729999 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006829.2 +1 validated p.A35V 0.992 9 0.000 14 0.571 80 38.7% benign(0.021) deleterious(0) neutral(0.446) NULL AGAP11 119385 genome.wustl.edu 37 10 88768753 88768753 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133447.1 +1 validated p.K248N 1.000 42 0% 31 32.3% 1 0% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 AGAP11 119385 genome.wustl.edu 37 10 88769651 88769651 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133447.1 +1 validated p.E548K 1.000 55 0% 55 41.8% 2 0% - - - HMMSmart_ANK FAM22D 728130 genome.wustl.edu 37 10 89117988 89117988 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000330762 +1 known p.L61 0.364 260 0% 219 22.4% 1 0% - - - NULL ATAD1 84896 genome.wustl.edu 37 10 89544353 89544353 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032810.2 -1 provisional p.R153* 1.000 127 0% 50 48% 26 7.6% - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases PTEN 5728 genome.wustl.edu 37 10 89624258 89624258 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000371953 +1 known p.R11K 1.000 233 0% 209 38.3% 27 55.5% benign(0.001) tolerated(1) - NULL PTEN 5728 genome.wustl.edu 37 10 89685308 89685308 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000371953 +1 known p.Y68C 1.000 312 0% 94 37.2% 32 62.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717713 89717713 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000371953 +1 known p.P246 0.041 226 0% 92 45.7% 40 65% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PTEN 5728 genome.wustl.edu 37 10 89720744 89720744 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000371953 +1 known p.E299* 1.000 352 0% 131 42% 39 17.9% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 RNLS 55328 genome.wustl.edu 37 10 90074235 90074235 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031709.2 -1 validated p.W288* 1.000 186 0% 56 51.8% 0 - - - - superfamily_FAD/NAD(P)-binding domain LIPJ 142910 genome.wustl.edu 37 10 90356597 90356597 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010939.2 +1 validated p.F209 0.000 276 0% 69 36.2% 0 - - - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases LIPJ 142910 genome.wustl.edu 37 10 90366521 90366521 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010939.2 +1 validated p.V320I 0.683 268 0% 87 42.5% 0 - benign(0.289) tolerated(0.15) neutral(0.330) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases LIPF 8513 genome.wustl.edu 37 10 90428471 90428471 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004190.2 +1 reviewed p.N127T 0.092 163 0% 91 38.5% 8 12.5% benign(0.358) deleterious(0) deleterious(0.558) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases LIPN 643418 genome.wustl.edu 37 10 90526051 90526051 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102469.1 +1 validated p.L151F 1.000 373 0% 66 50% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Abhydrolase_1,superfamily_SSF53474 ANKRD22 118932 genome.wustl.edu 37 10 90585815 90585815 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144590.2 -1 validated p.E127K 0.839 139 0% 66 42.4% 1 0% benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ACTA2 59 genome.wustl.edu 37 10 90699346 90699346 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001141945.1 -1 reviewed p.Y242 0.469 60 0% 25 24% 213 18.7% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ACTA2 59 genome.wustl.edu 37 10 90703578 90703578 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001141945.1 -1 reviewed p.K115N 1.000 90 0% 38 15.8% 160 6.8% benign(0.339) - - HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,superfamily_Actin-like ATPase domain FAS 355 genome.wustl.edu 37 10 90768681 90768681 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000043.3 +1 reviewed p.N124H 0.998 230 0% 73 37% 21 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like CH25H 9023 genome.wustl.edu 37 10 90966294 90966294 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003956.3 -1 reviewed p.P252 0.357 17 0% 10 50% 4 100% - - - NULL IFIT2 3433 genome.wustl.edu 37 10 91066895 91066895 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001547.4 +1 validated p.H394Q 0.255 164 0% 61 36.1% 2 50% benign(0.095) tolerated(0.17) neutral(0.066) superfamily_SSF48452 IFIT1B 439996 genome.wustl.edu 37 10 91143639 91143639 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010987.2 +1 validated p.K190T 0.000 147 0% 50 36% 0 - benign(0) tolerated(0.44) neutral(0.013) superfamily_TPR-like IFIT5 24138 genome.wustl.edu 37 10 91177706 91177706 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012420.2 +1 validated p.Y250 0.324 236 0% 137 40.9% 5 20% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 SLC16A12 387700 genome.wustl.edu 37 10 91198855 91198855 + Silent SNP G G A rs192441993 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213606.3 -1 validated p.I148 0.937 39 0% 15 46.7% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter PANK1 53354 genome.wustl.edu 37 10 91371471 91371471 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148977.1 -1 reviewed p.F346 0.088 75 0% 31 48.4% 11 18.1% - - - HMMPfam_Fumble,superfamily_Actin-like ATPase domain KIF20B 9585 genome.wustl.edu 37 10 91479371 91479371 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016195.2 +1 validated p.E544K 0.983 187 0% 76 44.7% 2 0% possibly_damaging(0.892) tolerated(0.12) deleterious(0.612) NULL KIF20B 9585 genome.wustl.edu 37 10 91497516 91497516 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016195.2 +1 validated p.R933I 0.273 178 0% 59 40.7% 2 100% possibly_damaging(0.677) deleterious(0.04) deleterious(0.590) NULL KIF20B 9585 genome.wustl.edu 37 10 91511160 91511160 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016195.2 +1 validated p.E1345G 1.000 226 0% 85 32.9% 12 58.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PCGF5 84333 genome.wustl.edu 37 10 93008299 93008299 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032373.3 +1 provisional p.V83I 1.000 604 0% 140 45.7% 8 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_RING/U-box PCGF5 84333 genome.wustl.edu 37 10 93031398 93031398 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032373.3 +1 provisional p.R223W 1.000 86 0% 52 44.2% 4 25% possibly_damaging(0.909) deleterious(0.03) deleterious(0.726) NULL HECTD2 143279 genome.wustl.edu 37 10 93247344 93247344 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000371668 +1 known p.F117L 0.996 88 0% 49 20.4% 0 - unknown(0) deleterious(0) - NULL FGFBP3 143282 genome.wustl.edu 37 10 93668173 93668173 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152429.4 -1 validated p.A185D 0.001 24 0% 21 47.6% 3 0% benign(0.075) tolerated(0.52) neutral(0.014) HMMPfam_FGF-BP1 BTAF1 9044 genome.wustl.edu 37 10 93718898 93718898 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003972.2 +1 validated p.S326N 1.000 272 0% 132 27.3% 10 50% benign(0.081) tolerated(0.23) neutral(0.048) superfamily_ARM repeat BTAF1 9044 genome.wustl.edu 37 10 93744056 93744056 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003972.2 +1 validated p.M774I 1.000 125 0% 57 38.6% 9 33.3% benign(0.081) tolerated(0.07) neutral(0.325) superfamily_ARM repeat BTAF1 9044 genome.wustl.edu 37 10 93749130 93749130 + Missense_Mutation SNP G G A rs79134325 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003972.2 +1 validated p.E883K 1.000 83 0% 57 38.6% 4 75% probably_damaging(0.974) deleterious(0.02) deleterious(0.799) superfamily_ARM repeat CPEB3 22849 genome.wustl.edu 37 10 93940762 93940762 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014912.4 -1 validated p.N394H 1.000 342 0% 124 45.2% 1 0% possibly_damaging(0.945) deleterious(0.02) deleterious(0.772) NULL MARCH5 54708 genome.wustl.edu 37 10 94109496 94109496 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017824.4 +1 validated p.R208* 1.000 243 0% 123 49.6% 54 16.6% - - - NULL IDE 3416 genome.wustl.edu 37 10 94294415 94294415 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004969.3 -1 reviewed p.S137R 1.000 292 0% 146 17.8% 9 44.4% possibly_damaging(0.835) tolerated(0.22) neutral(0.360) superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16 KIF11 3832 genome.wustl.edu 37 10 94405238 94405238 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004523.3 +1 reviewed p.E796* 1.000 209 0% 63 41.3% 8 25% - - - NULL HHEX 3087 genome.wustl.edu 37 10 94454459 94454459 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002729.4 +1 reviewed p.E249D 1.000 115 0% 100 41% 1 0% benign(0.253) tolerated(0.69) neutral(0.028) NULL EXOC6 54536 genome.wustl.edu 37 10 94669348 94669348 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019053.4 +1 reviewed p.R208Q 1.000 219 0% 59 44.1% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL EXOC6 54536 genome.wustl.edu 37 10 94733939 94733939 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019053.4 +1 reviewed p.D635N 1.000 260 0% 122 34.4% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sec15 MYOF 26509 genome.wustl.edu 37 10 95089473 95089473 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013451.3 -1 reviewed p.R1644* 1.000 314 0% 194 37.6% 11 18.1% - - - HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MYOF 26509 genome.wustl.edu 37 10 95111508 95111508 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013451.3 -1 reviewed p.D1193N 0.997 417 0.2% 218 38.5% 4 0% benign(0) tolerated(0.58) neutral(0.005) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MYOF 26509 genome.wustl.edu 37 10 95119660 95119660 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013451.3 -1 reviewed p.T1017S 1.000 251 0% 144 24.3% 12 16.6% benign(0.002) tolerated(0.22) neutral(0.042) HMMSmart_SM00694 MYOF 26509 genome.wustl.edu 37 10 95134654 95134654 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013451.3 -1 reviewed p.R723* 0.437 92 0% 52 48.1% 9 11.1% - - - HMMPfam_FerA SLC35G1 159371 genome.wustl.edu 37 10 95660892 95660892 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134658.1 +1 validated p.S248Y 1.000 212 0% 114 36% 4 50% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_DUF6 PLCE1 51196 genome.wustl.edu 37 10 95987084 95987084 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016341.3 +1 reviewed p.L611 1.000 79 0% 65 44.6% 5 40% - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF PLCE1 51196 genome.wustl.edu 37 10 96018575 96018575 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016341.3 +1 reviewed p.S1191 1.000 225 0% 114 10.5% 7 0% - - - NULL NOC3L 64318 genome.wustl.edu 37 10 96101453 96101453 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022451.9 -1 provisional p.L541I 1.000 245 0% 72 15.3% 7 14.2% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) NULL NOC3L 64318 genome.wustl.edu 37 10 96109884 96109884 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022451.9 -1 provisional p.D372N 1.000 189 0% 112 50.9% 9 11.1% possibly_damaging(0.811) tolerated(1) neutral(0.305) NULL CYP2C18 1562 genome.wustl.edu 37 10 96466623 96466623 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000772.2 +1 reviewed p.S242N 0.000 225 0% 50 40% 0 - benign(0) tolerated(0.57) neutral(0.006) HMMPfam_p450,superfamily_Cytochrome P450 CYP2C19 1557 genome.wustl.edu 37 10 96612638 96612638 + Silent SNP G G A rs28399514 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000769.1 +1 reviewed p.P480 0.220 204 0.5% 83 37.3% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 PDLIM1 9124 genome.wustl.edu 37 10 97023789 97023789 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020992.2 -1 provisional p.R122Q 1.000 83 0% 62 54.8% 256 41% probably_damaging(1) tolerated(0.32) deleterious(0.524) NULL SORBS1 10580 genome.wustl.edu 37 10 97082550 97082550 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001034956.1 -1 validated p.S811P 1.000 187 0% 85 49.4% 1 0% possibly_damaging(0.661) tolerated(0.21) neutral(0.278) superfamily_SH3 SORBS1 10580 genome.wustl.edu 37 10 97096604 97096604 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001034954.1 -1 validated p.S1105P 1.000 57 0% 84 10.7% 0 - possibly_damaging(0.674) tolerated(0.15) deleterious(0.480) NULL ALDH18A1 5832 genome.wustl.edu 37 10 97366548 97366548 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002860.3 -1 reviewed p.L787I 1.000 75 0% 32 40.6% 74 28.3% benign(0.017) tolerated(0.13) neutral(0.253) NULL ALDH18A1 5832 genome.wustl.edu 37 10 97373894 97373894 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002860.3 -1 reviewed p.D544Y 1.000 69 0% 40 35% 79 59.4% benign(0.113) deleterious(0.05) neutral(0.354) superfamily_ALDH-like ALDH18A1 5832 genome.wustl.edu 37 10 97376297 97376297 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002860.3 -1 reviewed p.R514 0.810 38 0% 25 36% 67 29.8% - - - superfamily_ALDH-like ALDH18A1 5832 genome.wustl.edu 37 10 97397042 97397042 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002860.3 -1 reviewed e3+2 1.000 28 0% 20 35% 7 71.4% - - - - ENTPD1 953 genome.wustl.edu 37 10 97599460 97599460 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098175.1 +1 validated p.A48V 1.000 137 0% 75 40% 16 6.2% - - - NULL CC2D2B 387707 genome.wustl.edu 37 10 97773548 97773548 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001732.3 +1 validated p.L108I 0.825 342 0% 93 38.7% 0 - probably_damaging(0.99) tolerated(0.05) deleterious(0.787) NULL CC2D2B 387707 genome.wustl.edu 37 10 97787006 97787006 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000451649 +1 known p.R293* 0.993 365 0% 120 46.7% 0 - - - - NULL BLNK 29760 genome.wustl.edu 37 10 97951767 97951767 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013314.3 -1 reviewed p.D445Y 1.000 834 0% 391 44.5% 2 100% unknown(0) deleterious(0) - superfamily_SH2 domain DNTT 1791 genome.wustl.edu 37 10 98080448 98080448 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004088.3 +1 reviewed p.A194V 0.997 232 0% 71 39.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00483,superfamily_DNA polymerase beta N-terminal domain-like TLL2 7093 genome.wustl.edu 37 10 98133429 98133429 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012465.3 -1 validated p.S862 0.020 37 0% 40 52.5% 0 - - - - HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB TLL2 7093 genome.wustl.edu 37 10 98136474 98136474 + Missense_Mutation SNP G G A rs183751282 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012465.3 -1 validated p.S808L 0.955 90 0% 38 44.7% 0 - benign(0.103) deleterious(0) neutral(0.453) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB TLL2 7093 genome.wustl.edu 37 10 98188387 98188387 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012465.3 -1 validated e5+1 1.000 96 0% 40 20% 0 - - - - - PIK3AP1 118788 genome.wustl.edu 37 10 98388217 98388217 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152309.2 -1 validated p.P470L 0.004 165 0% 92 43.5% 4 0% possibly_damaging(0.828) deleterious(0) deleterious(0.758) NULL ARHGAP19 84986 genome.wustl.edu 37 10 99023360 99023360 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032900.4 -1 validated p.V144L 1.000 166 0% 84 39.3% 3 100% benign(0.208) tolerated(0.4) neutral(0.036) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP PGAM1 5223 genome.wustl.edu 37 10 99190719 99190719 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002629.2 +1 provisional p.R141M 1.000 150 0% 88 54.5% 149 63% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like ZDHHC16 84287 genome.wustl.edu 37 10 99215517 99215517 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032327.2 +1 validated p.R309C 0.001 100 0% 77 46.8% 65 40% benign(0.002) deleterious(0.01) neutral(0.406) NULL MMS19 64210 genome.wustl.edu 37 10 99228160 99228160 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022362.4 -1 validated p.C356Y 1.000 16 0% 15 53.3% 32 21.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat MORN4 118812 genome.wustl.edu 37 10 99377077 99377077 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098831.1 -1 validated p.R24C 1.000 114 0% 58 53.4% 8 37.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain PI4K2A 55361 genome.wustl.edu 37 10 99416633 99416633 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018425.2 +1 provisional p.R275Q 1.000 137 0% 99 45.5% 16 37.5% possibly_damaging(0.699) tolerated(0.06) deleterious(0.574) HMMPfam_PI3_PI4_kinase ZFYVE27 118813 genome.wustl.edu 37 10 99517041 99517041 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002261.3 +1 reviewed p.S359 0.347 102 0% 87 51.7% 25 24% - - - HMMPfam_FYVE,HMMSmart_FYVE,superfamily_FYVE_PHD_ZnF C10orf28 27291 genome.wustl.edu 37 10 99969100 99969100 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014472.4 +1 validated p.R410Q 0.000 257 0% 89 58.4% 8 37.5% benign(0.117) tolerated(0.19) neutral(0.059) NULL C10orf28 27291 genome.wustl.edu 37 10 99991445 99991445 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014472.4 +1 validated e2+1 1.000 263 0% 92 37% 0 - - - - - LOXL4 84171 genome.wustl.edu 37 10 100015468 100015468 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032211.6 -1 reviewed p.R486M 0.707 10 0% 16 56.2% 5 20% possibly_damaging(0.649) deleterious(0.04) deleterious(0.577) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like HPSE2 60495 genome.wustl.edu 37 10 100249938 100249938 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021828.4 -1 reviewed p.L446I 1.000 44 0% 29 51.7% 0 - probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL HPSE2 60495 genome.wustl.edu 37 10 100481490 100481490 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021828.4 -1 reviewed p.R294 1.000 65 0% 28 50% 0 - - - - HMMPfam_Glyco_hydro_79n HPSE2 60495 genome.wustl.edu 37 10 100503702 100503702 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021828.4 -1 reviewed p.A241D 1.000 165 0% 83 48.2% 0 - possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) HMMPfam_Glyco_hydro_79n HPSE2 60495 genome.wustl.edu 37 10 100995429 100995429 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021828.4 -1 reviewed p.R44K 1.000 114 0% 62 43.5% 0 - possibly_damaging(0.737) deleterious(0) deleterious(0.714) NULL GOT1 2805 genome.wustl.edu 37 10 101163385 101163385 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002079.2 -1 reviewed p.R267K 0.999 37 0% 23 34.8% 44 40.9% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_AA_TRANSFER_CLASS_1,HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases GOT1 2805 genome.wustl.edu 37 10 101180424 101180424 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002079.2 -1 reviewed p.R86H 0.704 66 0% 42 45.2% 62 41.9% possibly_damaging(0.595) deleterious(0) deleterious(0.650) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ENTPD7 57089 genome.wustl.edu 37 10 101439617 101439617 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020354.3 +1 validated p.R178M 1.000 28 0% 19 26.3% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDA1_CD39 ENTPD7 57089 genome.wustl.edu 37 10 101458520 101458520 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020354.3 +1 validated p.E414K 1.000 83 1.2% 48 31.2% 11 27.2% possibly_damaging(0.857) tolerated(0.08) deleterious(0.631) HMMPfam_GDA1_CD39 CUTC 51076 genome.wustl.edu 37 10 101496056 101496056 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015960.2 +1 validated p.V39M 0.998 305 0% 155 40% 11 18.1% benign(0.051) deleterious(0.03) neutral(0.367) HMMPfam_CutC,superfamily_CutC-like (Pfam 03932) ABCC2 1244 genome.wustl.edu 37 10 101560152 101560152 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000392.3 +1 reviewed p.I347 0.991 239 0% 129 36.4% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC2 1244 genome.wustl.edu 37 10 101571341 101571341 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000392.3 +1 reviewed p.S650L 0.000 158 0% 74 43.2% 0 - benign(0) tolerated(0.38) neutral(0.018) superfamily_P-loop containing nucleoside triphosphate hydrolases DNMBP 23268 genome.wustl.edu 37 10 101646374 101646374 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015221.2 -1 validated p.R1101W 1.000 20 5% 20 55% 3 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_BAR,HMMSmart_SM00721 DNMBP 23268 genome.wustl.edu 37 10 101715344 101715344 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015221.2 -1 validated p.Q629H 0.226 36 0% 41 51.2% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL DNMBP 23268 genome.wustl.edu 37 10 101716116 101716116 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015221.2 -1 validated p.R372I 0.000 79 0% 74 44.6% 2 50% benign(0.014) tolerated(0.1) neutral(0.287) NULL CPN1 1369 genome.wustl.edu 37 10 101814193 101814193 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001308.2 -1 reviewed p.G341D 1.000 143 0% 77 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain,superfamily_Zn-dependent exopeptidases PKD2L1 9033 genome.wustl.edu 37 10 102055987 102055987 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016112.2 -1 reviewed p.G416 0.754 62 0% 30 33.3% 0 - - - - HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels PKD2L1 9033 genome.wustl.edu 37 10 102055998 102055998 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016112.2 -1 reviewed p.R413W 0.939 54 0% 28 57.1% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels PKD2L1 9033 genome.wustl.edu 37 10 102089696 102089696 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016112.2 -1 reviewed p.D55 0.010 58 0% 50 28% 0 - - - - NULL SCD 6319 genome.wustl.edu 37 10 102116292 102116292 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005063.4 +1 validated p.Y217 1.000 122 0% 94 41.5% 69 43.4% - - - HMMPfam_FA_desaturase WNT8B 7479 genome.wustl.edu 37 10 102240818 102240818 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003393.3 +1 reviewed p.R102I 0.973 110 0% 74 16.2% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_wnt,HMMSmart_WNT1 SEC31B 25956 genome.wustl.edu 37 10 102257953 102257953 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015490.3 -1 reviewed p.L566F 0.990 65 0% 49 34.7% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SEC31B 25956 genome.wustl.edu 37 10 102262028 102262028 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015490.3 -1 reviewed p.L465M 1.000 38 0% 16 37.5% 4 50% benign(0.022) tolerated(0.07) neutral(0.320) NULL HIF1AN 55662 genome.wustl.edu 37 10 102296374 102296374 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017902.2 +1 validated p.F128 0.998 101 0% 86 44.2% 16 50% - - - superfamily_SSF51197 SEMA4G 57715 genome.wustl.edu 37 10 102743535 102743535 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017893.2 +1 reviewed p.G727R 1.000 9 0.000 14 0.643 32 75% possibly_damaging(0.578) deleterious(0) deleterious(0.643) NULL C10orf2 56652 genome.wustl.edu 37 10 102749058 102749058 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021830.4 +1 reviewed p.H364R 1.000 19 0% 19 31.6% 9 77.7% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL PDZD7 79955 genome.wustl.edu 37 10 102782016 102782016 + Silent SNP G G A rs185340346 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024895.3 -1 provisional p.G223 1.000 45 0% 62 22.6% 1 100% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like DPCD 25911 genome.wustl.edu 37 10 103348139 103348139 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015448.1 +1 provisional p.T16A 1.000 13 7.7% 24 37.5% 109 44.9% possibly_damaging(0.857) - - NULL FBXW4 6468 genome.wustl.edu 37 10 103371165 103371165 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022039.3 -1 reviewed p.A374 1.000 31 0% 27 51.9% 89 42.6% - - - superfamily_WD40_like KCNIP2 30819 genome.wustl.edu 37 10 103599591 103599591 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173194.2 -1 reviewed p.R3* 0.968 15 0% 17 47.1% 0 - - - - NULL LDB1 8861 genome.wustl.edu 37 10 103869198 103869198 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113407.1 -1 validated p.R267C 1.000 37 0% 55 41.8% 120 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_LIM_bind PPRC1 23082 genome.wustl.edu 37 10 103907016 103907016 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015062.3 +1 reviewed p.R1423* 0.849 23 0% 15 46.7% 19 10.5% - - - NULL NOLC1 9221 genome.wustl.edu 37 10 103919270 103919270 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004741.3 +1 validated p.E268D 0.986 259 0% 154 42.9% 59 35.5% unknown(0) tolerated(0.28) - NULL ELOVL3 83401 genome.wustl.edu 37 10 103987500 103987500 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152310.1 +1 provisional p.C73 0.869 94 0% 66 45.5% 0 - - - - HMMPfam_ELO ELOVL3 83401 genome.wustl.edu 37 10 103988814 103988814 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152310.1 +1 provisional p.Q206H 1.000 97 0% 82 42.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELO GBF1 8729 genome.wustl.edu 37 10 104136437 104136437 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004193.1 +1 provisional p.L1389 1.000 38 0% 34 41.2% 70 37.1% - - - NULL PSD 5662 genome.wustl.edu 37 10 104173561 104173561 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002779.3 -1 provisional p.E506D 0.999 10 0% 17 52.9% 0 - probably_damaging(0.99) tolerated(0.14) deleterious(0.691) NULL TMEM180 79847 genome.wustl.edu 37 10 104233474 104233474 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024789.3 +1 validated p.S358I 0.614 46 0% 52 19.2% 4 0% benign(0.008) tolerated(0.39) neutral(0.016) superfamily_MFS_gen_substrate_transporter SUFU 51684 genome.wustl.edu 37 10 104359284 104359284 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441466 +1 known p.R230C 1.000 30 0% 29 44.8% 14 50% - - - HMMPfam_SUFU CNNM2 54805 genome.wustl.edu 37 10 104679712 104679712 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017649.3 +1 validated p.V492A 1.000 110 0% 88 12.5% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_CBS NT5C2 22978 genome.wustl.edu 37 10 104865540 104865540 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134373.1 -1 validated p.T104 0.299 222 0% 102 11.8% 24 16.6% - - - NULL LOC729020 729020 genome.wustl.edu 37 10 105006345 105006345 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143909.1 +1 provisional p.S198G 1.000 239 0% 153 37.3% 0 - - - - HMMPfam_Ribul_P_3_epim,superfamily_RibP_bind_barrel INA 9118 genome.wustl.edu 37 10 105046812 105046812 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032727.3 +1 reviewed p.E362D 1.000 112 0% 60 48.3% 5 80% benign(0.022) tolerated(0.13) neutral(0.254) HMMPfam_Filament PDCD11 22984 genome.wustl.edu 37 10 105184801 105184801 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014976.1 +1 validated p.A942S 0.996 59 0% 40 50% 15 13.3% probably_damaging(0.978) tolerated(0.08) deleterious(0.720) NULL CALHM1 255022 genome.wustl.edu 37 10 105218161 105218161 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001412.3 -1 reviewed p.A116 0.026 4 0.000 8 0.875 0 - - - - NULL SH3PXD2A 9644 genome.wustl.edu 37 10 105363096 105363096 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014631.2 -1 validated p.P599S 1.000 21 0% 15 46.7% 12 33.3% benign(0.309) tolerated(0.06) neutral(0.419) NULL SH3PXD2A 9644 genome.wustl.edu 37 10 105484063 105484063 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000420222 -1 known p.R76* 1.000 20 0% 22 40.9% 1 0% - - - HMMPfam_PX,superfamily_PX domain OBFC1 79991 genome.wustl.edu 37 10 105664891 105664893 + In_Frame_Del DEL TTA TTA - novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 TTA TTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024928.4 -1 validated p.I84in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_tRNA_anti,superfamily_Nucleic_acid_OB COL17A1 1308 genome.wustl.edu 37 10 105794080 105794080 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000494.3 -1 reviewed p.R1260H 0.998 9 0.000 8 0.750 2 50% unknown(0) tolerated(0.06) - NULL COL17A1 1308 genome.wustl.edu 37 10 105813871 105813871 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000494.3 -1 reviewed p.R584* 0.108 56 0% 47 46.8% 2 0% - - - HMMPfam_Collagen COL17A1 1308 genome.wustl.edu 37 10 105837200 105837200 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000494.3 -1 reviewed p.S61I 1.000 83 0% 65 56.9% 3 100% unknown(0) deleterious(0) - NULL SFR1 119392 genome.wustl.edu 37 10 105885445 105885445 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002759.1 +1 validated p.E241* 1.000 176 0% 78 46.2% 3 33.3% - - - NULL WDR96 80217 genome.wustl.edu 37 10 105944846 105944846 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000434629 -1 known p.E51* 0.033 300 0% 187 44.9% 0 - benign(0.059) tolerated(0.19) neutral(0.054) NULL CCDC147 159686 genome.wustl.edu 37 10 106207548 106207548 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008723.1 +1 validated p.T783 0.000 18 0% 14 64.3% 0 - - - - NULL SORCS3 22986 genome.wustl.edu 37 10 106865193 106865193 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014978.1 +1 reviewed p.E378K 0.994 89 1.1% 36 61.1% 0 - probably_damaging(0.999) tolerated(0.25) deleterious(0.527) HMMSmart_VPS10,superfamily_SSF110296 SORCS3 22986 genome.wustl.edu 37 10 106865241 106865241 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014978.1 +1 reviewed p.L394M 0.997 89 0% 35 37.1% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_VPS10,superfamily_SSF110296 SORCS3 22986 genome.wustl.edu 37 10 106916995 106916995 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014978.1 +1 reviewed p.Q528* 1.000 72 0% 35 48.6% 0 - - - - HMMSmart_VPS10,superfamily_SSF110296 SORCS3 22986 genome.wustl.edu 37 10 106961003 106961003 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014978.1 +1 reviewed p.D751E 0.997 84 1.2% 32 43.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_VPS10 SORCS1 114815 genome.wustl.edu 37 10 108366987 108366987 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000452214 -1 known p.S49Y 1.000 68 0% 32 37.5% 0 - - - - NULL SORCS1 114815 genome.wustl.edu 37 10 108389033 108389033 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013031.1 -1 reviewed p.G863 1.000 56 0% 29 37.9% 1 0% - - - HMMPfam_PKD,HMMSmart_PKD,superfamily_PKD XPNPEP1 7511 genome.wustl.edu 37 10 111648339 111648339 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020383.3 -1 reviewed p.P101S 1.000 47 0% 27 44.4% 55 38.1% benign(0.172) deleterious(0) neutral(0.460) NULL ADD3 120 genome.wustl.edu 37 10 111893147 111893147 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016824.3 +1 reviewed p.G631D 1.000 79 0% 45 42.2% 54 42.5% probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL RBM20 282996 genome.wustl.edu 37 10 112572354 112572354 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134363.1 +1 reviewed p.H733 1.000 27 0% 23 56.5% 0 - - - - NULL RBM20 282996 genome.wustl.edu 37 10 112581648 112581648 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134363.1 +1 reviewed p.E1091K 0.806 57 0% 34 55.9% 0 - possibly_damaging(0.608) deleterious(0) deleterious(0.655) NULL GPAM 57678 genome.wustl.edu 37 10 113932810 113932810 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020918.4 -1 validated p.V192A 1.000 326 0% 127 43.3% 2 50% probably_damaging(0.971) deleterious(0.01) deleterious(0.819) superfamily_SSF69593 ACSL5 51703 genome.wustl.edu 37 10 114169369 114169369 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016234.3 +1 reviewed p.D269N 1.000 138 0% 45 48.9% 12 25% possibly_damaging(0.703) tolerated(0.11) deleterious(0.524) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSL5 51703 genome.wustl.edu 37 10 114170364 114170364 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016234.3 +1 reviewed p.S312N 0.986 123 0% 69 39.1% 16 43.7% benign(0.007) deleterious(0.02) neutral(0.383) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSL5 51703 genome.wustl.edu 37 10 114181725 114181725 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016234.3 +1 reviewed p.A526T 0.000 123 0% 90 15.6% 22 9% benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like HABP2 3026 genome.wustl.edu 37 10 115340370 115340370 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004132.3 +1 reviewed p.E253K 0.793 94 0% 60 30% 0 - benign(0) tolerated(0.67) neutral(0.003) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like,PatternScan_KRINGLE_1 NRAP 4892 genome.wustl.edu 37 10 115348781 115348781 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198060.2 -1 validated p.A1716T 1.000 106 0% 83 59% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NRAP 4892 genome.wustl.edu 37 10 115350603 115350603 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198060.2 -1 validated p.G1564R 1.000 65 0% 41 12.2% 1 0% benign(0.146) deleterious(0.01) neutral(0.418) NULL NRAP 4892 genome.wustl.edu 37 10 115406696 115406696 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198060.2 -1 validated p.E327K 1.000 115 0% 61 41% 0 - possibly_damaging(0.932) tolerated(0.34) neutral(0.402) HMMPfam_Nebulin,HMMSmart_SM00227 CASP7 840 genome.wustl.edu 37 10 115451782 115451782 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033338.4 +1 reviewed p.T18A 0.362 67 0% 35 31.4% 3 33.3% unknown(0) - - NULL C10orf81 79949 genome.wustl.edu 37 10 115533997 115533997 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000369310 +1 known p.I222 0.000 295 0% 126 34.9% 1 0% - - - NULL DCLRE1A 9937 genome.wustl.edu 37 10 115609551 115609551 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014881.3 -1 provisional p.A438V 0.005 188 0% 148 41.2% 5 60% benign(0.014) tolerated(0.15) neutral(0.241) NULL ADRB1 153 genome.wustl.edu 37 10 115804330 115804330 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000684.2 +1 reviewed p.E147K 1.000 9 0.000 8 0.500 4 50% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like C10orf118 55088 genome.wustl.edu 37 10 115885860 115885860 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018017.2 -1 validated p.I800V 1.000 179 0% 62 41.9% 0 - probably_damaging(0.987) tolerated(0.22) deleterious(0.478) NULL C10orf118 55088 genome.wustl.edu 37 10 115889665 115889665 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018017.2 -1 validated p.R723C 1.000 219 0% 82 46.3% 6 16.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL C10orf118 55088 genome.wustl.edu 37 10 115891901 115891901 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000428953 -1 known p.S195P 1.000 305 0% 85 40% 5 40% - - - superfamily_Prefoldin C10orf118 55088 genome.wustl.edu 37 10 115905444 115905444 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018017.2 -1 validated p.S322Y 1.000 976 0% 351 39.9% 3 33.3% possibly_damaging(0.906) tolerated(0.16) neutral(0.419) NULL C10orf118 55088 genome.wustl.edu 37 10 115905496 115905496 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018017.2 -1 validated p.R305C 1.000 683 0.3% 284 43% 9 77.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TDRD1 56165 genome.wustl.edu 37 10 115947627 115947627 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198795.1 +1 reviewed p.N13H 1.000 203 0% 104 38.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL AFAP1L2 84632 genome.wustl.edu 37 10 116073685 116073685 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001936.1 -1 validated p.A246V 0.989 45 0% 40 37.5% 11 27.2% probably_damaging(0.96) deleterious(0.03) deleterious(0.768) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ABLIM1 3983 genome.wustl.edu 37 10 116225565 116225565 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002313.5 -1 reviewed p.R445W 1.000 84 1.2% 61 37.7% 51 45% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FAM160B1 57700 genome.wustl.edu 37 10 116615073 116615073 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020940.3 +1 validated p.D641N 1.000 260 0.8% 130 38.5% 3 33.3% benign(0.001) tolerated(0.42) neutral(0.014) NULL ATRNL1 26033 genome.wustl.edu 37 10 117040896 117040896 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207303.2 +1 validated p.R711I 1.000 154 0% 58 31% 0 - probably_damaging(0.976) tolerated(0.2) neutral(0.467) NULL PNLIPRP3 119548 genome.wustl.edu 37 10 118225641 118225641 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001011709.2 +1 validated p.F296L 0.078 609 0% 263 40.3% 0 - benign(0.393) deleterious(0.01) deleterious(0.532) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIP 5406 genome.wustl.edu 37 10 118315012 118315012 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000936.2 +1 reviewed p.I268 1.000 250 0% 103 36.9% 0 - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIPRP2 5408 genome.wustl.edu 37 10 118386478 118386478 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005396.4 +1 validated p.R146W 0.991 140 0.7% 136 42.6% 0 - probably_damaging(0.962) deleterious(0.03) deleterious(0.770) NULL C10orf82 143379 genome.wustl.edu 37 10 118423728 118423728 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000388884 -1 known p.Q172H 0.003 100 0% 45 17.8% 0 - benign(0.348) tolerated(0.15) neutral(0.351) NULL KIAA1598 57698 genome.wustl.edu 37 10 118645923 118645923 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127211.1 -1 validated p.E610K 0.000 567 0% 308 42.2% 30 43.3% benign(0) deleterious(0) neutral(0.445) NULL VAX1 11023 genome.wustl.edu 37 10 118891963 118891963 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199131.2 -1 reviewed p.R152Q 0.995 214 0% 141 39.7% 0 - unknown(0) deleterious(0) - HMMSmart_SM00389 KCNK18 338567 genome.wustl.edu 37 10 118969536 118969536 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181840.1 +1 provisional p.I294T 0.999 220 0% 155 46.5% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Ion_trans_2,superfamily_SSF81324 PDZD8 118987 genome.wustl.edu 37 10 119042849 119042849 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173791.3 -1 provisional p.S1132N 0.998 439 0% 153 43.8% 22 50% benign(0.004) tolerated(0.17) neutral(0.059) NULL EIF3A 8661 genome.wustl.edu 37 10 120801663 120801663 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003750.2 -1 validated p.A1123 0.000 95 0% 81 50.6% 177 48% - - - NULL EIF3A 8661 genome.wustl.edu 37 10 120802004 120802004 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003750.2 -1 validated p.R1010C 1.000 96 0% 91 44% 162 48.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM45A 404636 genome.wustl.edu 37 10 120867532 120867532 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207009.2 +1 validated p.T36 1.000 218 0% 139 43.2% 13 53.8% - - - NULL FAM45A 404636 genome.wustl.edu 37 10 120896139 120896139 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207009.2 +1 validated p.E352K 0.999 198 0% 112 32.1% 14 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GRK5 2869 genome.wustl.edu 37 10 121214503 121214503 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005308.2 +1 reviewed p.S566L 0.993 138 0% 120 51.7% 4 50% unknown(0) tolerated(0.24) - NULL GRK5 2869 genome.wustl.edu 37 10 121214768 121214768 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000457057 +1 known p.P371S 0.005 8 0.000 12 0.417 2 50% unknown(0) - - NULL RGS10 6001 genome.wustl.edu 37 10 121259737 121259737 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005339.1 -1 reviewed p.R145H 1.000 285 0% 189 48.1% 155 48.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam TIAL1 7073 genome.wustl.edu 37 10 121336662 121336662 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033925.1 -1 reviewed p.T281M 1.000 224 0% 119 37.8% 64 40.6% possibly_damaging(0.555) tolerated(0.09) deleterious(0.486) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 INPP5F 22876 genome.wustl.edu 37 10 121564923 121564923 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014937.2 +1 reviewed p.Q423 0.979 495 0% 257 11.3% 2 0% - - - NULL INPP5F 22876 genome.wustl.edu 37 10 121567498 121567498 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014937.2 +1 reviewed p.R499C 1.000 113 0% 37 48.6% 7 14.2% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL MCMBP 79892 genome.wustl.edu 37 10 121591010 121591010 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024834.2 -1 validated p.K635N 0.735 138 0% 69 20.3% 70 21.4% possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL MCMBP 79892 genome.wustl.edu 37 10 121595140 121595140 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024834.2 -1 validated p.A542V 0.007 108 0% 43 48.8% 58 39.6% possibly_damaging(0.948) tolerated(0.51) neutral(0.400) HMMPfam_DUF2044 WDR11 55717 genome.wustl.edu 37 10 122650367 122650367 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018117.11 +1 reviewed p.A828V 0.645 231 0% 132 34.8% 14 7.1% benign(0.036) tolerated(0.12) neutral(0.263) NULL FGFR2 2263 genome.wustl.edu 37 10 123310935 123310935 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022970.3 -1 reviewed p.R165W 0.996 115 0% 91 45.1% 23 52.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF48726 TACC2 10579 genome.wustl.edu 37 10 123844792 123844792 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206862.2 +1 reviewed p.S926Y 0.005 64 0% 42 40.5% 4 50% possibly_damaging(0.745) deleterious(0.01) deleterious(0.679) NULL TACC2 10579 genome.wustl.edu 37 10 123970859 123970859 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206862.2 +1 reviewed p.T2307A 0.986 76 0% 65 52.3% 14 57.1% benign(0) tolerated(0.46) neutral(0.012) NULL PLEKHA1 59338 genome.wustl.edu 37 10 124189332 124189332 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001974.1 +1 validated p.E365* 1.000 121 0% 61 9.8% 39 10.2% - - - NULL BUB3 9184 genome.wustl.edu 37 10 124922314 124922314 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004725.3 +1 reviewed p.R314H 1.000 139 0% 49 28.6% 172 30.2% benign(0.206) tolerated(0.06) neutral(0.343) superfamily_WD40 repeat-like GPR26 2849 genome.wustl.edu 37 10 125434427 125434427 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153442.3 +1 validated p.F254 1.000 50 0% 44 50% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CHST15 51363 genome.wustl.edu 37 10 125805389 125805389 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015892.2 -1 validated p.G114R 0.003 161 0% 122 45.9% 4 0% benign(0.002) deleterious(0.01) neutral(0.406) NULL FAM175B 23172 genome.wustl.edu 37 10 126508011 126508011 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032182.3 +1 validated p.R87W 1.000 585 0% 274 16.8% 10 10% benign(0.274) deleterious(0.01) neutral(0.435) NULL CTBP2 1488 genome.wustl.edu 37 10 126678262 126678262 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022802.2 -1 reviewed p.P928Q 1.000 36 0% 29 41.4% 95 49.4% benign(0.008) deleterious(0.03) neutral(0.364) NULL C10orf122 387718 genome.wustl.edu 37 10 127350457 127350457 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128202.1 -1 validated p.Q47 0.001 77 0% 50 42% 0 - - - - NULL C10orf122 387718 genome.wustl.edu 37 10 127371546 127371546 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128202.1 -1 validated p.R5* 0.484 136 0.7% 92 54.3% 0 - - - - NULL MMP21 118856 genome.wustl.edu 37 10 127455503 127455503 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_147191.1 -1 reviewed p.R480* 0.007 335 0% 156 42.3% 0 - - - - superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP21 118856 genome.wustl.edu 37 10 127464237 127464237 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_147191.1 -1 reviewed p.A52T 0.003 12 0% 17 47.1% 0 - benign(0.005) tolerated(0.43) neutral(0.013) HMMPfam_PG_binding_1,superfamily_PGBD-like BCCIP 56647 genome.wustl.edu 37 10 127524715 127524715 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_078468.2 +1 reviewed p.D273N 1.000 326 0% 180 12.8% 52 11.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL BCCIP 56647 genome.wustl.edu 37 10 127524805 127524805 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_078468.2 +1 reviewed p.E303K 0.475 212 0% 114 47.4% 42 40.4% benign(0.311) tolerated(0.87) neutral(0.098) NULL FANK1 92565 genome.wustl.edu 37 10 127668804 127668804 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145235.3 +1 validated p.D30N 1.000 151 0% 77 33.8% 0 - possibly_damaging(0.924) tolerated(0.16) neutral(0.432) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ADAM12 8038 genome.wustl.edu 37 10 127731688 127731688 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003474.4 -1 reviewed p.C678 0.752 40 2.5% 37 43.2% 7 0% - - - HMMPfam_EGF_2 ADAM12 8038 genome.wustl.edu 37 10 127789754 127789754 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003474.4 -1 reviewed p.D269 0.712 100 1% 64 50% 1 0% - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM12 8038 genome.wustl.edu 37 10 127797181 127797181 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003474.4 -1 reviewed p.I244T 1.000 538 0% 184 35.9% 3 0% possibly_damaging(0.61) deleterious(0.01) deleterious(0.617) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" C10orf90 118611 genome.wustl.edu 37 10 128193104 128193104 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004298.2 -1 validated p.Y222C 0.000 41 0% 47 40.4% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL FAM196A 642938 genome.wustl.edu 37 10 128952149 128952149 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039762.2 -1 validated p.D408V 1.000 177 0.6% 67 26.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM196A 642938 genome.wustl.edu 37 10 128974189 128974189 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039762.2 -1 validated p.E157 0.000 84 0% 87 48.3% 0 - - - - NULL DOCK1 1793 genome.wustl.edu 37 10 129055661 129055661 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398025 +1 known p.F1049 0.773 211 0.5% 108 50% 4 50% - - - NULL DOCK1 1793 genome.wustl.edu 37 10 129141943 129141943 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398025 +1 known p.F1098V 1.000 270 0% 166 10.2% 6 33.3% possibly_damaging(0.943) tolerated(0.05) deleterious(0.733) NULL DOCK1 1793 genome.wustl.edu 37 10 129249602 129249602 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398025 +1 known p.P1903T 1.000 71 0% 35 17.1% 29 17.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MKI67 4288 genome.wustl.edu 37 10 129901014 129901014 + Silent SNP C C T rs181024034 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002417.4 -1 reviewed p.K3030 0.000 101 0% 62 45.2% 16 75% - - - NULL MKI67 4288 genome.wustl.edu 37 10 129904854 129904854 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002417.4 -1 reviewed p.S1750R 0.000 471 0% 260 40.4% 13 30.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129906134 129906134 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002417.4 -1 reviewed p.E1324* 0.001 168 0% 128 41.4% 14 7.1% - - - HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129914208 129914208 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002417.4 -1 reviewed p.P155H 0.002 412 0% 199 36.7% 6 66.6% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL MGMT 4255 genome.wustl.edu 37 10 131557571 131557571 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002412.3 +1 validated p.A158V 0.733 59 0% 46 50% 52 44.2% benign(0.19) tolerated(0.81) neutral(0.018) HMMPfam_DNA_binding_1,superfamily_MethylDNA_cys_mtrans_DNA_bd EBF3 253738 genome.wustl.edu 37 10 131761780 131761780 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005463.1 -1 validated p.G48R 1.000 20 0% 20 55% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL GLRX3 10539 genome.wustl.edu 37 10 131959238 131959238 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006541.3 +1 provisional p.G152E 0.999 95 0% 47 44.7% 61 59% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glutaredoxin,superfamily_Thiordxn-like_fd TCERG1L 256536 genome.wustl.edu 37 10 132932642 132932642 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174937.3 -1 validated p.R420Q 0.999 164 0% 84 45.2% 0 - possibly_damaging(0.883) tolerated(0.07) deleterious(0.664) NULL TCERG1L 256536 genome.wustl.edu 37 10 133107524 133107524 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174937.3 -1 validated p.P127 0.528 112 0.9% 58 50% 0 - - - - NULL JAKMIP3 282973 genome.wustl.edu 37 10 133967311 133967311 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105521.2 +1 provisional p.V706M 1.000 26 0% 28 35.7% 0 - possibly_damaging(0.449) tolerated(1) neutral(0.147) NULL LRRC27 80313 genome.wustl.edu 37 10 134174991 134174991 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143757.1 +1 validated p.L401M 0.003 139 0% 81 37% 6 0% probably_damaging(0.989) tolerated(0.12) deleterious(0.700) NULL LRRC27 80313 genome.wustl.edu 37 10 134175055 134175055 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143757.1 +1 validated p.S422L 0.000 142 0% 87 29.9% 8 50% possibly_damaging(0.896) deleterious(0.01) deleterious(0.759) NULL PWWP2B 170394 genome.wustl.edu 37 10 134218152 134218152 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138499.3 +1 validated p.P50T 0.481 33 0% 38 31.6% 13 30.7% probably_damaging(0.991) tolerated(1) neutral(0.444) NULL TTC40 54777 genome.wustl.edu 37 10 134624471 134624471 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000368586 -1 known p.E2522D 0.000 28 0% 24 41.7% 0 - probably_damaging(0.99) tolerated(0.14) deleterious(0.691) NULL CYP2E1 1571 genome.wustl.edu 37 10 135352426 135352426 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000773.3 +1 reviewed p.C480 0.000 175 0% 109 45% 4 75% - - - HMMPfam_p450,superfamily_Cytochrome_P450 RIC8A 60626 genome.wustl.edu 37 11 209485 209485 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021932.4 +1 provisional p.R71* 1.000 12 0% 22 68.2% 65 40% - - - HMMPfam_Ric8 SIRT3 23410 genome.wustl.edu 37 11 233450 233450 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012239.5 -1 validated p.K122N 0.263 102 0% 69 43.5% 9 0% probably_damaging(0.983) deleterious(0.03) deleterious(0.793) NULL ATHL1 80162 genome.wustl.edu 37 11 294296 294296 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025092.4 +1 validated p.P613H 0.996 23 0% 13 69.2% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_65m,superfamily_Six-hairpin glycosidases IFITM2 10581 genome.wustl.edu 37 11 309109 309109 + Missense_Mutation SNP T T G rs74901761 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006435.2 +1 validated p.F115V 0.036 75 0% 73 37% 112 16% benign(0) tolerated(0.29) neutral(0.029) HMMPfam_CD225 LRRC56 115399 genome.wustl.edu 37 11 540759 540759 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198075.3 +1 validated p.W25* 1.000 13 0.000 8 0.500 21 33.3% - - - NULL PHRF1 57661 genome.wustl.edu 37 11 607431 607431 + Missense_Mutation SNP C C T rs192557368 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020901.2 +1 validated p.R658C 0.000 18 0% 32 43.8% 36 36.1% possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL PHRF1 57661 genome.wustl.edu 37 11 609173 609173 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020901.2 +1 validated p.P1238 0.000 16 0% 10 50% 29 58.6% - - - NULL CDHR5 53841 genome.wustl.edu 37 11 620066 620066 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021924.4 -1 reviewed e9+1 0.976 20 0% 24 33.3% 0 - - - - - EPS8L2 64787 genome.wustl.edu 37 11 724727 724727 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022772.3 +1 reviewed p.G486 0.996 21 0% 25 64% 56 53.5% - - - superfamily_SH3-domain PNPLA2 57104 genome.wustl.edu 37 11 823779 823779 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020376.2 +1 provisional p.S281 0.118 5 0.000 10 0.400 65 40% - - - NULL EFCAB4A 283229 genome.wustl.edu 37 11 829510 829510 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173584.3 +1 validated p.E143G 1.000 8 0.000 9 0.556 44 47.7% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL CHID1 66005 genome.wustl.edu 37 11 883207 883207 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142676.1 -1 validated p.N325K 1.000 25 0% 17 64.7% 98 38.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat CHID1 66005 genome.wustl.edu 37 11 900105 900105 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142676.1 -1 validated p.R174W 1.000 37 0% 59 47.5% 129 49.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat AP2A2 161 genome.wustl.edu 37 11 986946 986946 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012305.2 +1 validated p.A375V 1.000 19 0% 19 57.9% 54 44.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Adaptin_N,superfamily_ARM repeat AP2A2 161 genome.wustl.edu 37 11 1006531 1006531 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012305.2 +1 validated p.R737Q 1.000 662 0% 423 40.4% 38 42.1% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,superfamily_Clathrin adaptor appendage domain MUC6 4588 genome.wustl.edu 37 11 1028728 1028728 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005961.2 -1 validated p.F503 0.795 13 0% 16 31.2% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 MUC2 4583 genome.wustl.edu 37 11 1085743 1085743 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002457.2 +1 reviewed e21-1 1.000 18 0% 15 46.7% 0 - - - - - MUC5B 727897 genome.wustl.edu 37 11 1155614 1155614 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000406844 +1 known p.G101D 0.949 14 0% 12 33.3% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_VWD,HMMSmart_SM00216 MUC5B 727897 genome.wustl.edu 37 11 1263325 1263325 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002458.1 +1 validated p.E1742K 0.000 23 0% 20 50% 0 - benign(0.014) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1266354 1266354 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002458.1 +1 validated p.P2751 0.000 149 0.7% 177 31.1% 0 - - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1266589 1266589 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002458.1 +1 validated p.T2830A 0.000 90 0% 89 29.2% 1 0% unknown(0) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1266797 1266797 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002458.1 +1 validated p.D2899V 0.290 35 0% 49 20.4% 0 - unknown(0) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1272560 1272560 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002458.1 +1 validated p.R4820Q 0.000 27 0% 48 91.7% 0 - unknown(0) - - NULL BRSK2 9024 genome.wustl.edu 37 11 1466606 1466606 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003957.2 +1 validated p.D299N 1.000 8 0.000 10 0.400 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like KRTAP5-3 387266 genome.wustl.edu 37 11 1629151 1629151 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012708.2 -1 validated p.C155 0.966 39 0% 55 36.4% 0 - - - - PatternScan_VWFC_1 KRTAP5-4 387267 genome.wustl.edu 37 11 1642666 1642666 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012709.1 -1 provisional p.V220I 0.809 78 1.3% 64 35.9% 0 - unknown(0) tolerated(0.23) - NULL TNNT3 7140 genome.wustl.edu 37 11 1955883 1955883 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006757.3 +1 reviewed p.L196 1.000 16 0% 11 63.6% 0 - - - - HMMPfam_Troponin C11orf21 29125 genome.wustl.edu 37 11 2320837 2320837 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142946.1 -1 predicted p.A129V 0.004 44 0% 36 25% 0 - possibly_damaging(0.86) - - NULL KCNQ1 3784 genome.wustl.edu 37 11 2604727 2604727 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000218.2 +1 reviewed p.I328 0.971 68 0% 63 36.5% 9 55.5% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KCNQ1 3784 genome.wustl.edu 37 11 2608803 2608803 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000218.2 +1 reviewed p.A378T 0.655 14 0% 16 50% 6 50% benign(0.006) tolerated(0.29) neutral(0.029) NULL NAP1L4 4676 genome.wustl.edu 37 11 2997259 2997259 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005969.3 -1 reviewed p.I56 0.958 106 0% 59 64.4% 81 50.6% - - - NULL CARS 833 genome.wustl.edu 37 11 3039965 3039965 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014437.1 -1 reviewed p.N470 0.967 256 0% 170 34.7% 39 51.2% - - - HMMPfam_tRNA-synt_1e,superfamily_SSF52374 CARS 833 genome.wustl.edu 37 11 3040443 3040443 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014437.1 -1 reviewed p.A441T 1.000 16 0% 19 52.6% 43 44.1% benign(0.001) tolerated(0.15) neutral(0.241) HMMPfam_tRNA-synt_1e,superfamily_SSF52374 ZNF195 7748 genome.wustl.edu 37 11 3380494 3380494 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130520.1 -1 validated p.E582K 0.035 291 0% 101 48.5% 14 50% possibly_damaging(0.489) tolerated(0.09) neutral(0.459) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF195 7748 genome.wustl.edu 37 11 3380915 3380915 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130520.1 -1 validated p.D441 0.001 188 0% 80 42.5% 15 60% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NUP98 4928 genome.wustl.edu 37 11 3697439 3697439 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016320.4 -1 reviewed p.R1785C 1.000 20 0% 21 33.3% 96 47.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PGAP2 27315 genome.wustl.edu 37 11 3846320 3846320 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014489.2 +1 validated p.A260D 1.000 111 0% 99 51.5% 62 56.4% possibly_damaging(0.846) deleterious(0.02) deleterious(0.708) HMMPfam_Frag1 RHOG 391 genome.wustl.edu 37 11 3848963 3848963 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001665.3 -1 validated p.P136S 1.000 9 0.000 14 0.357 73 13.6% probably_damaging(0.959) deleterious(0.02) deleterious(0.786) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases OR52M1 119772 genome.wustl.edu 37 11 4566905 4566905 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004137.1 +1 validated p.P162H 0.001 92 0% 49 36.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,superfamily_SSF81321 OR52R1 119695 genome.wustl.edu 37 11 4824901 4824901 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005177.3 -1 validated p.R316H 0.001 37 0% 24 37.5% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52R1 119695 genome.wustl.edu 37 11 4825788 4825788 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005177.3 -1 validated p.C20W 0.000 128 0% 33 39.4% 0 - benign(0.006) - - NULL OR51S1 119692 genome.wustl.edu 37 11 4870390 4870390 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004758.1 -1 provisional p.A17T 0.149 109 0% 48 43.8% 0 - benign(0.02) tolerated(0.39) neutral(0.017) PatternScan_SPASE_I_1,superfamily_Family A G protein-coupled receptor-like OR51A7 119687 genome.wustl.edu 37 11 4929267 4929267 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004749.1 +1 provisional p.T223I 0.906 218 0% 85 38.8% 0 - benign(0.003) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_SSF81321 OR51G1 79324 genome.wustl.edu 37 11 4945266 4945266 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005237.1 -1 provisional p.Q102* 0.999 47 0% 20 35% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MMP26 56547 genome.wustl.edu 37 11 5009490 5009490 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021801.3 +1 reviewed p.A17T 0.002 128 0% 123 41.5% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL OR52J3 119679 genome.wustl.edu 37 11 5067884 5067884 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001916.2 +1 validated p.G43 0.877 136 0% 67 47.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52A4 390053 genome.wustl.edu 37 11 5142346 5142346 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005222.2 -1 validated p.R155W 0.000 27 0% 10 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR52A5 390054 genome.wustl.edu 37 11 5153226 5153226 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005160.2 -1 validated p.F216C 0.003 106 0% 75 44% 0 - possibly_damaging(0.823) tolerated(0.39) neutral(0.328) HMMPfam_7tm_1,superfamily_SSF81321 OR52A1 23538 genome.wustl.edu 37 11 5173331 5173331 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012375.2 -1 validated p.N90I 0.001 85 0% 55 38.2% 0 - benign(0.277) deleterious(0.03) neutral(0.394) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HBB 3043 genome.wustl.edu 37 11 5247912 5247912 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000518.4 -1 reviewed p.G70 0.006 52 0% 45 26.7% 25 0% - - - HMMPfam_Globin,superfamily_Globin-like OR51B2 79345 genome.wustl.edu 37 11 5345053 5345053 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033180.4 -1 validated p.L159V 0.000 142 0% 42 54.8% 0 - benign(0.001) tolerated(0.37) neutral(0.019) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51M1 390059 genome.wustl.edu 37 11 5411481 5411481 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004756.2 +1 validated p.H285N 0.014 35 0% 31 51.6% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51Q1 390061 genome.wustl.edu 37 11 5443538 5443538 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004757.2 +1 validated p.L36 0.980 94 0% 88 12.5% 0 - - - - superfamily_SSF81321 OR51Q1 390061 genome.wustl.edu 37 11 5443684 5443684 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004757.2 +1 validated p.Q85R 0.000 129 0% 105 44.8% 0 - benign(0) tolerated(0.43) neutral(0.013) HMMPfam_7tm_1,superfamily_SSF81321 UBQLNL 143630 genome.wustl.edu 37 11 5536961 5536961 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145053.4 -1 validated p.E237D 1.000 42 0% 32 43.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OR56B1 387748 genome.wustl.edu 37 11 5758345 5758345 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005180.1 +1 provisional p.D200G 0.995 110 0% 57 19.3% 0 - benign(0.182) deleterious(0.02) neutral(0.400) HMMPfam_7tm_1,superfamily_SSF81321 OR52N5 390075 genome.wustl.edu 37 11 5799474 5799474 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001922.2 -1 validated p.R131S 1.000 96 0% 43 20.9% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR52N1 79473 genome.wustl.edu 37 11 5809097 5809097 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001913.1 -1 provisional p.S317F 0.012 133 0% 54 44.4% 0 - benign(0.001) deleterious(0.01) neutral(0.406) NULL OR52N2 390077 genome.wustl.edu 37 11 5842059 5842059 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005174.1 +1 provisional p.T165I 0.001 208 0% 119 45.4% 0 - benign(0) tolerated(0.93) - HMMPfam_7tm_1,superfamily_SSF81321 OR52E6 390078 genome.wustl.edu 37 11 5862477 5862477 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005167.1 -1 provisional p.L217 0.006 74 0% 29 17.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR52E8 390079 genome.wustl.edu 37 11 5878554 5878554 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005168.1 -1 provisional p.D127N 1.000 103 0% 39 25.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR52E4 390081 genome.wustl.edu 37 11 5906312 5906312 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005165.1 +1 provisional p.R264C 0.000 371 0% 84 40.5% 0 - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) HMMPfam_7tm_1,superfamily_SSF81321 OR56A3 390083 genome.wustl.edu 37 11 5968615 5968615 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003443.2 +1 provisional p.A13 0.974 153 0% 92 40.2% 0 - - - - superfamily_SSF81321 OR56A4 120793 genome.wustl.edu 37 11 6023766 6023766 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005179.2 -1 provisional p.A205S 0.001 36 0% 34 11.8% 0 - benign(0.004) tolerated(0.15) neutral(0.241) HMMPfam_7tm_1,superfamily_SSF81321 OR56B4 196335 genome.wustl.edu 37 11 6129497 6129497 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005181.1 +1 provisional p.I163 0.904 80 0% 52 21.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CNGA4 1262 genome.wustl.edu 37 11 6260476 6260476 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037329.2 +1 validated p.P14S 0.167 85 0% 86 40.7% 0 - possibly_damaging(0.67) tolerated(0.69) neutral(0.239) NULL CNGA4 1262 genome.wustl.edu 37 11 6261661 6261661 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037329.2 +1 validated p.R213C 0.998 12 0.000 7 0.714 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels APBB1 322 genome.wustl.edu 37 11 6423908 6423908 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001164.2 -1 reviewed p.E384 1.000 27 0% 28 57.1% 5 0% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like HPX 3263 genome.wustl.edu 37 11 6461738 6461738 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000613.2 -1 reviewed p.A58V 1.000 112 0% 75 54.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX TRIM3 10612 genome.wustl.edu 37 11 6478579 6478579 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006458.2 -1 reviewed p.R215C 1.000 21 0% 16 43.8% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00502 DNHD1 144132 genome.wustl.edu 37 11 6519559 6519559 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173589.3 +1 validated p.C38 0.000 18 0% 18 50% 1 0% - - - NULL DNHD1 144132 genome.wustl.edu 37 11 6567151 6567151 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144666.2 +1 provisional p.L1661P 0.760 47 0% 42 38.1% 2 50% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) superfamily_P-loop containing nucleoside triphosphate hydrolases DNHD1 144132 genome.wustl.edu 37 11 6578983 6578983 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144666.2 +1 provisional p.V2820I 0.719 73 0% 48 54.2% 0 - possibly_damaging(0.529) deleterious(0) deleterious(0.623) NULL DNHD1 144132 genome.wustl.edu 37 11 6585809 6585809 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144666.2 +1 provisional p.L3511 0.002 103 0% 86 45.3% 0 - - - - NULL DNHD1 144132 genome.wustl.edu 37 11 6588139 6588139 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144666.2 +1 provisional p.T3800 0.014 43 0% 38 52.6% 0 - - - - NULL DNHD1 144132 genome.wustl.edu 37 11 6588485 6588485 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144666.2 +1 provisional p.R3916C 0.995 17 0% 18 66.7% 0 - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) NULL DNHD1 144132 genome.wustl.edu 37 11 6593183 6593183 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144666.2 +1 provisional p.R4743 1.000 28 0% 42 42.9% 2 50% - - - HMMPfam_Dynein_heavy DCHS1 8642 genome.wustl.edu 37 11 6646628 6646628 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003737.2 -1 reviewed p.S2316Y 0.913 30 0% 39 48.7% 7 0% probably_damaging(0.993) tolerated(0.11) deleterious(0.722) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6646875 6646875 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003737.2 -1 reviewed p.D2272G 1.000 13 0% 18 61.1% 10 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6653810 6653810 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003737.2 -1 reviewed p.R978H 1.000 7 0.000 13 0.538 1 100% probably_damaging(0.993) tolerated(0.16) deleterious(0.510) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin OR10A5 144124 genome.wustl.edu 37 11 6867511 6867511 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178168.1 +1 provisional p.A200T 0.001 142 0% 101 20.8% 0 - probably_damaging(0.973) tolerated(0.27) neutral(0.449) HMMPfam_7tm_1,superfamily_SSF81321 OR2D3 120775 genome.wustl.edu 37 11 6943085 6943085 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004684.1 +1 provisional p.E285K 0.024 184 0% 100 42% 0 - benign(0) tolerated(0.29) neutral(0.029) HMMPfam_7tm_1,superfamily_SSF81321 ZNF214 7761 genome.wustl.edu 37 11 7021995 7021995 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013249.2 -1 validated p.A307T 0.000 216 0% 50 36% 0 - benign(0) tolerated(0.38) neutral(0.018) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NLRP14 338323 genome.wustl.edu 37 11 7064444 7064444 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176822.3 +1 reviewed p.T396I 0.283 81 0% 53 39.6% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL RBMXL2 27288 genome.wustl.edu 37 11 7110449 7110449 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014469.4 +1 reviewed p.R33H 0.816 13 0% 21 23.8% 1 0% possibly_damaging(0.592) tolerated(0.36) neutral(0.224) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 SYT9 143425 genome.wustl.edu 37 11 7437358 7437358 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175733.3 +1 validated p.R377M 1.000 144 0% 88 48.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB OLFML1 283298 genome.wustl.edu 37 11 7507225 7507225 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198474.3 +1 validated p.R40Q 0.990 109 0% 74 16.2% 0 - unknown(0) tolerated(0.75) - NULL PPFIBP2 8495 genome.wustl.edu 37 11 7663534 7663534 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003621.2 +1 validated p.R508Q 1.000 26 0% 17 47.1% 8 37.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PPFIBP2 8495 genome.wustl.edu 37 11 7670444 7670444 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003621.2 +1 validated p.R659Q 0.763 253 0% 140 87.9% 14 100% probably_damaging(0.99) tolerated(0.05) deleterious(0.787) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain OVCH2 341277 genome.wustl.edu 37 11 7716874 7716874 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198185.2 -1 validated p.F403 0.982 238 0% 83 43.4% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain OR5P2 120065 genome.wustl.edu 37 11 7817678 7817678 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153444.1 -1 provisional p.S271F 0.998 234 0% 74 24.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR5P2 120065 genome.wustl.edu 37 11 7818376 7818377 + Frame_Shift_Ins INS - - TTGCCAGATATGG novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153444.1 -1 provisional p.L39fs 0.741:0.930 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5P3 120066 genome.wustl.edu 37 11 7846813 7846813 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153445.1 -1 provisional p.K236T 0.997 127 0% 66 43.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 NLRP10 338322 genome.wustl.edu 37 11 7981511 7981511 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176821.3 -1 reviewed p.E550* 0.029 160 0% 104 52.9% 0 - - - - NULL NLRP10 338322 genome.wustl.edu 37 11 7981994 7981994 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176821.3 -1 reviewed p.V389I 0.540 23 0% 29 31% 0 - benign(0.096) tolerated(0.47) neutral(0.018) NULL TUB 7275 genome.wustl.edu 37 11 8120397 8120397 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003320.4 +1 reviewed p.R419H 1.000 76 0% 55 47.3% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tub,superfamily_Tubby_C RIC3 79608 genome.wustl.edu 37 11 8132424 8132424 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024557.3 -1 validated p.E310K 0.999 116 0% 73 39.7% 1 0% possibly_damaging(0.646) deleterious(0.03) deleterious(0.591) NULL STK33 65975 genome.wustl.edu 37 11 8435092 8435092 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030906.2 -1 validated p.G432R 0.000 521 0% 207 45.4% 2 50% benign(0.006) tolerated(0.2) neutral(0.049) NULL TRIM66 9866 genome.wustl.edu 37 11 8662500 8662500 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014818.1 -1 validated p.S329 0.018 22 0% 21 52.4% 0 - - - - NULL ST5 6764 genome.wustl.edu 37 11 8719174 8719174 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005418.3 -1 reviewed p.E984K 1.000 76 0% 53 30.2% 36 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ST5 6764 genome.wustl.edu 37 11 8751696 8751696 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005418.3 -1 reviewed p.D381N 1.000 85 0% 99 44.4% 14 57.1% benign(0) tolerated(0.29) neutral(0.029) NULL DENND5A 23258 genome.wustl.edu 37 11 9166617 9166617 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015213.2 -1 validated p.D1016A 1.000 73 0% 32 59.4% 55 43.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PLAT,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) ZNF143 7702 genome.wustl.edu 37 11 9492960 9492960 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003442.5 +1 validated p.T35 0.056 189 0% 131 48.1% 6 83.3% - - - NULL SBF2 81846 genome.wustl.edu 37 11 9834107 9834107 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030962.3 -1 reviewed p.A1376V 1.000 127 0% 63 42.9% 17 52.9% benign(0.001) tolerated(0.68) neutral(0.002) superfamily_(Phosphotyrosine protein) phosphatases II SBF2 81846 genome.wustl.edu 37 11 10051377 10051377 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030962.3 -1 reviewed p.V150I 1.000 114 0% 30 40% 7 28.5% benign(0.011) tolerated(0.67) neutral(0.003) HMMPfam_DENN,HMMSmart_SM00799 MRVI1 10335 genome.wustl.edu 37 11 10650348 10650348 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098579.1 -1 reviewed p.A192V 0.510 44 0% 43 30.2% 2 0% benign(0) tolerated(0.73) neutral(0.002) NULL MRVI1 10335 genome.wustl.edu 37 11 10651142 10651142 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098579.1 -1 reviewed p.R164* 1.000 69 0% 52 44.2% 1 0% - - - NULL CTR9 9646 genome.wustl.edu 37 11 10789903 10789903 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014633.3 +1 provisional p.A658 0.996 233 0% 108 11.1% 23 21.7% - - - superfamily_SSF48452 GALNTL4 374378 genome.wustl.edu 37 11 11354261 11354261 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198516.2 -1 validated p.D466N 1.000 24 0% 16 43.8% 13 7.6% benign(0.072) tolerated(0.55) neutral(0.012) superfamily_Ricin B-like lectins MICALCL 84953 genome.wustl.edu 37 11 12348721 12348721 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032867.2 +1 validated p.A546V 1.000 54 0% 45 44.4% 1 0% benign(0.097) deleterious(0.03) neutral(0.372) NULL SPON1 10418 genome.wustl.edu 37 11 14096897 14096897 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000310358 +1 known p.S162I 1.000 158 0% 74 37.8% 30 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Reeler COPB1 1315 genome.wustl.edu 37 11 14487902 14487902 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144061.1 -1 reviewed p.I739S 1.000 313 0% 136 35.3% 144 41.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Coatamer_beta_C COPB1 1315 genome.wustl.edu 37 11 14502363 14502363 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144061.1 -1 reviewed p.R385Q 1.000 240 0% 109 43.1% 78 43.5% benign(0.131) tolerated(1) neutral(0.011) HMMPfam_Adaptin_N,superfamily_ARM-type_fold PSMA1 5682 genome.wustl.edu 37 11 14535413 14535413 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148976.2 -1 reviewed p.R128* 0.855 182 0% 83 37.3% 159 6.9% - - - HMMPfam_Proteasome,superfamily_SSF56235 PDE3B 5140 genome.wustl.edu 37 11 14840739 14840739 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000922.3 +1 validated p.C597* 0.122 243 0% 77 42.9% 1 0% - - - NULL CALCA 796 genome.wustl.edu 37 11 14990458 14990458 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033952.2 -1 reviewed p.T105A 1.000 99 0% 80 51.2% 0 - benign(0.045) tolerated(0.13) neutral(0.255) HMMPfam_Calc_CGRP_IAPP,HMMSmart_SM00113 INSC 387755 genome.wustl.edu 37 11 15222443 15222443 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031853.3 +1 provisional p.R303H 1.000 59 0% 49 42.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat SOX6 55553 genome.wustl.edu 37 11 16007856 16007856 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033326.3 -1 reviewed p.R673* 1.000 262 0.4% 137 36.5% 9 11.1% - - - superfamily_HMG-box PLEKHA7 144100 genome.wustl.edu 37 11 16816194 16816194 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175058.4 -1 validated p.P862 0.007 51 2% 37 43.2% 4 50% - - - NULL PIK3C2A 5286 genome.wustl.edu 37 11 17126840 17126840 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002645.2 -1 validated p.L1186R 1.000 283 0% 146 37.7% 10 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) PIK3C2A 5286 genome.wustl.edu 37 11 17191094 17191094 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002645.2 -1 validated p.A65 1.000 434 0% 265 37% 8 62.5% - - - NULL NUCB2 4925 genome.wustl.edu 37 11 17332761 17332761 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005013.2 +1 validated p.E231* 1.000 195 0% 100 40% 41 2.4% - - - superfamily_EF-hand KCNJ11 3767 genome.wustl.edu 37 11 17409467 17409467 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000525.3 -1 reviewed p.D58H 1.000 17 0% 16 25% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IRK,superfamily_SSF81324 ABCC8 6833 genome.wustl.edu 37 11 17414607 17414607 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000352.3 -1 reviewed p.F1559 0.232 27 0% 30 43.3% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC8 6833 genome.wustl.edu 37 11 17416721 17416721 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000352.3 -1 reviewed p.L1470R 0.999 15 0% 17 35.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC8 6833 genome.wustl.edu 37 11 17470188 17470188 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000352.3 -1 reviewed p.S403P 1.000 194 0% 109 43.1% 0 - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC8 6833 genome.wustl.edu 37 11 17491678 17491678 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000352.3 -1 reviewed p.E128K 1.000 47 0% 37 48.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL USH1C 10083 genome.wustl.edu 37 11 17527469 17527469 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153676.3 -1 reviewed p.R681* 1.000 47 0% 38 39.5% 0 - - - - NULL USH1C 10083 genome.wustl.edu 37 11 17532034 17532034 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153676.3 -1 reviewed p.S483L 1.000 124 0% 73 41.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL USH1C 10083 genome.wustl.edu 37 11 17533494 17533494 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153676.3 -1 reviewed p.M456I 1.000 399 0.5% 223 39.9% 0 - benign(0.021) tolerated(0.37) neutral(0.020) NULL USH1C 10083 genome.wustl.edu 37 11 17542523 17542523 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153676.3 -1 reviewed p.E368D 1.000 393 0% 276 40.9% 0 - possibly_damaging(0.95) tolerated(0.08) deleterious(0.694) NULL USH1C 10083 genome.wustl.edu 37 11 17552746 17552746 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153676.3 -1 reviewed p.I114 0.996 10 0% 10 70% 0 - - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ KCNC1 3746 genome.wustl.edu 37 11 17793771 17793771 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001112741.1 +1 reviewed p.S377N 1.000 6 0.000 9 0.444 0 - benign(0.148) tolerated(0.5) neutral(0.023) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SAAL1 113174 genome.wustl.edu 37 11 18118394 18118394 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138421.2 -1 validated p.A86V 1.000 185 0% 69 39.1% 14 42.8% probably_damaging(0.996) tolerated(0.31) deleterious(0.489) superfamily_ARM-type_fold MRGPRX4 117196 genome.wustl.edu 37 11 18195097 18195097 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_054032.3 +1 validated p.L98 0.000 88 0% 109 41.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LDHA 3939 genome.wustl.edu 37 11 18418410 18418410 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005566.3 +1 reviewed p.Q7 1.000 249 0% 137 37.2% 585 47.1% - - - superfamily_NAD(P)-binding Rossmann-fold domains LDHA 3939 genome.wustl.edu 37 11 18428773 18428773 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005566.3 +1 reviewed p.R315H 1.000 185 0.5% 117 40.2% 1415 42.6% benign(0.008) tolerated(0.16) neutral(0.059) HMMPfam_Ldh_1_C,superfamily_LDH C-terminal domain-like LDHAL6A 160287 genome.wustl.edu 37 11 18497963 18497963 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144071.1 +1 validated p.V209I 0.924 320 0% 151 15.2% 0 - benign(0.009) tolerated(0.28) neutral(0.032) HMMPfam_Ldh_1_C,superfamily_Lactate_DH/Glyco_hydro_4_C TSG101 7251 genome.wustl.edu 37 11 18528466 18528466 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006292.2 -1 reviewed p.S162 1.000 195 0% 72 15.3% 106 2.8% - - - HMMSmart_SM00212 TSG101 7251 genome.wustl.edu 37 11 18541126 18541126 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006292.2 -1 reviewed p.R23C 1.000 326 0% 138 46.4% 23 39.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00212,HMMPfam_UEV,superfamily_UBC-like SPTY2D1 144108 genome.wustl.edu 37 11 18631437 18631437 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194285.2 -1 validated p.R677* 0.982 452 0% 288 40.3% 15 33.3% - - - HMMPfam_SPT2,HMMSmart_SM00784 SPTY2D1 144108 genome.wustl.edu 37 11 18636961 18636961 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194285.2 -1 validated p.R287M 1.000 95 0% 61 42.6% 25 52% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL TMEM86A 144110 genome.wustl.edu 37 11 18722549 18722549 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153347.1 +1 provisional p.P31S 1.000 52 0% 51 37.3% 3 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL TMEM86A 144110 genome.wustl.edu 37 11 18722738 18722738 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153347.1 +1 provisional p.V94M 0.965 11 0% 17 52.9% 4 25% benign(0.133) tolerated(0.13) neutral(0.264) HMMPfam_YhhN IGSF22 283284 genome.wustl.edu 37 11 18732323 18732323 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173588.3 -1 validated p.A716 0.000 61 1.6% 64 50% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like IGSF22 283284 genome.wustl.edu 37 11 18739491 18739491 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173588.3 -1 validated p.E320 0.732 79 0% 72 44.4% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 IGSF22 283284 genome.wustl.edu 37 11 18743481 18743481 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173588.3 -1 validated p.P73S 0.964 22 0% 16 43.8% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 PTPN5 84867 genome.wustl.edu 37 11 18755173 18755173 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006906.1 -1 validated p.S337I 1.000 90 0% 63 49.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II MRGPRX1 259249 genome.wustl.edu 37 11 18955965 18955965 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_147199.3 -1 provisional p.S123P 0.992 60 0% 45 37.8% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 MRGPRX2 117194 genome.wustl.edu 37 11 19077244 19077244 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_054030.2 -1 provisional p.G236S 0.559 44 0% 34 38.2% 0 - probably_damaging(0.994) tolerated(0.13) deleterious(0.705) HMMPfam_7tm_1,superfamily_SSF81321 ZDHHC13 54503 genome.wustl.edu 37 11 19184928 19184928 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019028.2 +1 validated p.A396V 1.000 368 0% 93 48.4% 13 92.3% benign(0) deleterious(0.03) neutral(0.364) NULL NAV2 89797 genome.wustl.edu 37 11 19901611 19901611 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182964.5 +1 validated p.P236 1.000 20 0% 21 47.6% 1 0% - - - NULL NAV2 89797 genome.wustl.edu 37 11 20057532 20057532 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182964.5 +1 validated p.S932 0.516 49 0% 27 14.8% 8 12.5% - - - NULL NAV2 89797 genome.wustl.edu 37 11 20125258 20125258 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182964.5 +1 validated p.H2214P 1.000 189 0% 134 44% 22 63.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DBX1 120237 genome.wustl.edu 37 11 20180780 20180780 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029865.1 -1 provisional p.F142 0.977 112 0% 99 40.4% 0 - - - - NULL HTATIP2 10553 genome.wustl.edu 37 11 20404555 20404555 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098520.1 +1 validated p.R212H 1.000 58 0% 56 55.4% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-binding Rossmann-fold domains LOC645490 645490 genome.wustl.edu 37 11 20596171 20596171 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_928515.4 +1 model p.M211I 1.000 148 0% 32 15.6% 0 - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box SLC6A5 9152 genome.wustl.edu 37 11 20628623 20628623 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004211.3 +1 reviewed p.S250 0.002 49 0% 48 45.8% 0 - - - - HMMPfam_SNF ANO5 203859 genome.wustl.edu 37 11 22242668 22242668 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213599.2 +1 reviewed p.D69V 1.000 398 0% 61 45.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC17A6 57084 genome.wustl.edu 37 11 22382531 22382531 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020346.2 +1 validated e5+1 1.000 106 0% 62 43.5% 0 - - - - - GAS2 2620 genome.wustl.edu 37 11 22707296 22707296 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143830.1 +1 reviewed p.E76D 1.000 300 0% 123 48% 0 - benign(0.003) tolerated(0.16) neutral(0.059) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain LUZP2 338645 genome.wustl.edu 37 11 24753726 24753726 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009909.2 +1 validated p.Q81H 0.994 326 0% 65 29.2% 1 0% possibly_damaging(0.928) tolerated(0.41) neutral(0.391) NULL ANO3 63982 genome.wustl.edu 37 11 26484634 26484634 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031418.2 +1 validated p.S124F 1.000 154 0% 34 55.9% 0 - possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) NULL FIBIN 387758 genome.wustl.edu 37 11 27016671 27016671 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203371.1 +1 validated p.R200* 0.992 39 0% 33 30.3% 2 100% - - - NULL CCDC34 91057 genome.wustl.edu 37 11 27371826 27371826 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080654.2 -1 validated p.S220Y 0.000 701 0.3% 304 48.4% 0 - unknown(0) - - NULL LGR4 55366 genome.wustl.edu 37 11 27393927 27393927 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018490.2 -1 validated p.Y466 1.000 221 0% 115 15.7% 23 17.3% - - - superfamily_SSF52047 LIN7C 55327 genome.wustl.edu 37 11 27520301 27520301 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018362.3 -1 validated p.A163 0.944 523 0% 268 10.1% 14 21.4% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like KIF18A 81930 genome.wustl.edu 37 11 28098616 28098616 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031217.3 -1 validated p.F455V 0.996 564 0% 181 19.9% 6 33.3% possibly_damaging(0.532) tolerated(0.5) neutral(0.190) NULL METTL15 196074 genome.wustl.edu 37 11 28352005 28352005 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113528.1 +1 validated p.A281T 1.000 94 0% 52 48.1% 9 66.6% benign(0.365) deleterious(0) deleterious(0.560) HMMPfam_Methyltransf_5,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Putative methyltransferase TM0872 insert domain KCNA4 3739 genome.wustl.edu 37 11 30032278 30032278 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002233.2 -1 reviewed p.E650K 1.000 90 0% 69 40.6% 0 - benign(0.008) tolerated(0.05) neutral(0.345) NULL DNAJC24 120526 genome.wustl.edu 37 11 31392304 31392304 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181706.4 +1 validated p.A3 0.001 167 0% 82 50% 10 40% - - - superfamily_Chaperone J-domain IMMP1L 196294 genome.wustl.edu 37 11 31484792 31484792 + Missense_Mutation SNP C C T rs180782155 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144981.1 -1 provisional p.R11Q 1.000 196 0% 89 41.6% 22 40.9% benign(0.375) tolerated(0.44) neutral(0.132) NULL PAX6 5080 genome.wustl.edu 37 11 31822371 31822371 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001604.4 -1 reviewed p.A145T 1.000 75 0% 71 22.5% 11 27.2% benign(0.012) tolerated(0.15) neutral(0.241) NULL WT1 7490 genome.wustl.edu 37 11 32421518 32421518 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024426.3 -1 reviewed p.T358 0.253 146 0.7% 117 17.9% 0 - - - - HMMPfam_WT1 CCDC73 493860 genome.wustl.edu 37 11 32624459 32624459 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008391.2 -1 validated p.N1046 0.002 702 0% 360 38.1% 2 50% - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32635272 32635272 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008391.2 -1 validated p.E864 1.000 227 0% 81 42% 0 - - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32697534 32697534 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008391.2 -1 validated p.E155* 1.000 670 0% 255 42.4% 0 - - - - NULL QSER1 79832 genome.wustl.edu 37 11 32953688 32953688 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001076786.1 +1 provisional p.Y166C 1.000 214 0% 81 39.5% 5 60% possibly_damaging(0.88) deleterious(0) deleterious(0.788) NULL QSER1 79832 genome.wustl.edu 37 11 32997004 32997004 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000428421 +1 known p.L693V 0.000 77 0% 35 42.9% 0 - unknown(0) - - NULL DEPDC7 91614 genome.wustl.edu 37 11 33054274 33054274 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077242.1 +1 validated p.L400V 0.240 273 0% 106 39.6% 0 - benign(0.008) tolerated(0.07) neutral(0.319) NULL TCP11L1 55346 genome.wustl.edu 37 11 33078709 33078709 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145541.1 +1 validated p.C115 0.995 302 0% 130 50% 0 - - - - HMMPfam_Tcp11 TCP11L1 55346 genome.wustl.edu 37 11 33079565 33079565 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145541.1 +1 validated p.A173V 1.000 139 0% 80 42.5% 3 33.3% benign(0.165) deleterious(0.05) neutral(0.360) HMMPfam_Tcp11 C11orf41 25758 genome.wustl.edu 37 11 33565287 33565287 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012194.1 +1 validated p.G429 0.760 121 0% 67 11.9% 2 0% - - - NULL C11orf41 25758 genome.wustl.edu 37 11 33566445 33566445 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012194.1 +1 validated p.A678V 0.005 26 0% 18 33.3% 1 100% benign(0.344) deleterious(0.01) deleterious(0.514) NULL C11orf41 25758 genome.wustl.edu 37 11 33572759 33572759 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012194.1 +1 validated p.A934 0.744 97 0% 56 46.4% 1 100% - - - NULL C11orf41 25758 genome.wustl.edu 37 11 33581341 33581341 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012194.1 +1 validated p.V1010A 0.995 73 0% 49 51% 1 0% benign(0.041) tolerated(0.77) neutral(0.004) NULL C11orf41 25758 genome.wustl.edu 37 11 33628320 33628320 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012194.1 +1 validated p.P1380 0.988 24 0.000 6 0.833 1 100% - - - NULL C11orf41 25758 genome.wustl.edu 37 11 33680308 33680308 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012194.1 +1 validated p.D1666E 0.716 8 0.000 13 0.308 2 0% probably_damaging(0.999) tolerated(0.33) deleterious(0.514) NULL LMO2 4005 genome.wustl.edu 37 11 33881076 33881076 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005574.3 -1 reviewed p.I170M 1.000 89 0% 66 15.2% 33 21.2% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) CAPRIN1 4076 genome.wustl.edu 37 11 34093513 34093513 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005898.4 +1 validated p.S115R 0.998 423 0% 153 47.7% 77 51.9% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL CAT 847 genome.wustl.edu 37 11 34470861 34470861 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001752.3 +1 reviewed p.H63 1.000 118 0% 66 37.9% 75 42.6% - - - superfamily_Catalase_N,HMMPfam_Catalase APIP 51074 genome.wustl.edu 37 11 34910326 34910326 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015957.2 -1 validated p.L100I 1.000 558 0.2% 157 36.3% 42 40.4% possibly_damaging(0.448) deleterious(0.02) deleterious(0.529) HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase PDHX 8050 genome.wustl.edu 37 11 35016488 35016488 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003477.2 +1 reviewed p.I425 1.000 99 0% 70 38.6% 38 31.5% - - - HMMPfam_2-oxoacid_dh,superfamily_SSF52777 SLC1A2 6506 genome.wustl.edu 37 11 35287180 35287180 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004171.3 -1 reviewed p.M516T 1.000 480 0% 273 50.2% 1 0% benign(0.133) tolerated(0.08) neutral(0.311) NULL PAMR1 25891 genome.wustl.edu 37 11 35463155 35463155 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015430.2 -1 validated p.R320C 0.389 148 0% 77 50.6% 1 0% possibly_damaging(0.552) tolerated(0.12) neutral(0.449) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module PAMR1 25891 genome.wustl.edu 37 11 35463240 35463240 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015430.2 -1 validated p.V291 0.185 86 0% 42 40.5% 3 0% - - - NULL RAG2 5897 genome.wustl.edu 37 11 36615380 36615380 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000536.3 -1 reviewed p.V113 0.846 293 0% 188 43.1% 0 - - - - HMMPfam_RAG2 LRRC4C 57689 genome.wustl.edu 37 11 40137359 40137359 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020929.1 -1 validated p.S162R 1.000 152 0% 53 47.2% 0 - benign(0.218) tolerated(0.1) neutral(0.308) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like LOC399881 399881 genome.wustl.edu 37 11 43284076 43284076 + RNA SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_040375.2 -1 model NULL 0.995 22 0% 12 41.7% 0 - - - - - TTC17 55761 genome.wustl.edu 37 11 43411359 43411359 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018259.5 +1 validated p.S136N 1.000 213 0% 95 41.1% 12 58.3% possibly_damaging(0.817) tolerated(0.48) neutral(0.320) NULL TTC17 55761 genome.wustl.edu 37 11 43436272 43436272 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018259.5 +1 validated p.R733C 1.000 259 0% 62 45.2% 26 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48452 ACCS 84680 genome.wustl.edu 37 11 44105088 44105088 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127219.1 +1 validated p.R457C 1.000 52 0% 38 34.2% 4 75% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major CD82 3732 genome.wustl.edu 37 11 44626947 44626947 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002231.3 +1 reviewed p.A102T 0.632 53 0% 45 46.7% 69 39.1% benign(0.02) tolerated(0.08) neutral(0.301) HMMPfam_Tetraspannin PRDM11 56981 genome.wustl.edu 37 11 45204611 45204611 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020229.2 +1 validated p.I175 1.000 32 0% 38 44.7% 5 60% - - - NULL CRY2 1408 genome.wustl.edu 37 11 45882561 45882561 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021117.3 +1 validated p.G231 0.800 21 0% 13 30.8% 8 62.5% - - - superfamily_DNA_photolyase_N GYLTL1B 120071 genome.wustl.edu 37 11 45946064 45946064 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152312.3 +1 validated p.V167A 1.000 65 0% 59 16.9% 16 18.7% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases PHF21A 51317 genome.wustl.edu 37 11 45987074 45987074 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101802.1 -1 validated p.R262M 1.000 62 0% 35 48.6% 12 41.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL AMBRA1 55626 genome.wustl.edu 37 11 46563548 46563548 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017749.2 -1 validated p.E583D 1.000 53 0% 45 53.3% 11 18.1% benign(0.004) tolerated(0.28) neutral(0.032) NULL AMBRA1 55626 genome.wustl.edu 37 11 46568757 46568757 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017749.2 -1 validated p.R95H 1.000 96 1% 54 50% 16 37.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 HARBI1 283254 genome.wustl.edu 37 11 46637429 46637429 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173811.3 -1 validated p.R120H 0.850 44 0% 32 53.1% 2 0% benign(0.001) tolerated(0.19) neutral(0.050) NULL ZNF408 79797 genome.wustl.edu 37 11 46724281 46724281 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024741.2 +1 validated p.V120M 0.001 218 0% 189 37% 10 80% possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL F2 2147 genome.wustl.edu 37 11 46744816 46744816 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000506.3 +1 reviewed p.R135C 1.000 31 0% 27 37% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like F2 2147 genome.wustl.edu 37 11 46750322 46750322 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000506.3 +1 reviewed p.K469N 0.972 50 0% 26 38.5% 0 - possibly_damaging(0.828) tolerated(0.09) deleterious(0.611) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys CKAP5 9793 genome.wustl.edu 37 11 46801837 46801837 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008938.1 -1 validated p.G780 0.205 193 0% 86 40.7% 31 58% - - - superfamily_ARM repeat LRP4 4038 genome.wustl.edu 37 11 46890572 46890572 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002334.3 -1 reviewed p.D1602N 1.000 153 0% 102 37.3% 7 71.4% probably_damaging(0.979) tolerated(0.2) deleterious(0.471) superfamily_YWTD domain LRP4 4038 genome.wustl.edu 37 11 46894758 46894758 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002334.3 -1 reviewed p.H1492 1.000 52 0% 39 48.7% 4 25% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain LRP4 4038 genome.wustl.edu 37 11 46920572 46920572 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002334.3 -1 reviewed p.P187S 1.000 16 0.000 8 0.500 5 20% benign(0.076) tolerated(0.57) neutral(0.011) superfamily_LDL receptor-like module ARFGAP2 84364 genome.wustl.edu 37 11 47189584 47189584 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032389.3 -1 provisional p.N361D 1.000 156 0% 124 36.3% 50 44% unknown(0) tolerated(0.45) - NULL MADD 8567 genome.wustl.edu 37 11 47303966 47303966 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003682.3 +1 reviewed p.V502M 1.000 30 0% 34 50% 13 15.3% benign(0.194) deleterious(0.04) neutral(0.367) HMMPfam_dDENN,HMMSmart_SM00801 MADD 8567 genome.wustl.edu 37 11 47304522 47304522 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003682.3 +1 reviewed e9+2 1.000 65 0% 48 37.5% 0 - - - - - MADD 8567 genome.wustl.edu 37 11 47336779 47336779 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003682.3 +1 reviewed p.R1426 0.052 177 0.6% 142 13.4% 20 10% - - - NULL MYBPC3 4607 genome.wustl.edu 37 11 47372887 47372887 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000256.3 -1 reviewed p.T65 0.189 13 0% 17 41.2% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 PTPMT1 114971 genome.wustl.edu 37 11 47591333 47591333 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175732.2 +1 validated p.K113Q 1.000 39 0% 53 13.2% 75 12% unknown(0) - - HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II KBTBD4 55709 genome.wustl.edu 37 11 47597250 47597250 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018095.4 -1 validated p.D213 1.000 210 0% 152 42.8% 9 44.4% - - - HMMPfam_BACK AGBL2 79841 genome.wustl.edu 37 11 47711725 47711725 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024783.2 -1 validated p.R512W 1.000 109 0% 69 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases FNBP4 23360 genome.wustl.edu 37 11 47744606 47744606 + Silent SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015308.2 -1 validated p.P909 0.401 35 0% 25 28% 22 50% - - - NULL FNBP4 23360 genome.wustl.edu 37 11 47772525 47772525 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015308.2 -1 validated p.T283 0.000 339 0% 186 50% 14 7.1% - - - NULL NUP160 23279 genome.wustl.edu 37 11 47820008 47820008 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015231.1 -1 validated p.R968Q 1.000 149 0% 64 37.5% 16 50% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL PTPRJ 5795 genome.wustl.edu 37 11 48146653 48146653 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002843.3 +1 reviewed p.E336D 0.000 33 0% 16 37.5% 5 20% benign(0.002) tolerated(0.33) neutral(0.024) HMMSmart_FN3 PTPRJ 5795 genome.wustl.edu 37 11 48158725 48158725 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002843.3 +1 reviewed p.A682T 0.000 109 0% 63 42.9% 10 50% benign(0.268) tolerated(0.66) neutral(0.031) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PTPRJ 5795 genome.wustl.edu 37 11 48181582 48181582 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002843.3 +1 reviewed p.R1180I 1.000 115 0% 44 36.4% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 OR4B1 119765 genome.wustl.edu 37 11 48238809 48238809 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005470.1 +1 provisional p.G150S 0.906 165 0% 84 44% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_7tm_1,superfamily_SSF81321 OR4C45 403257 genome.wustl.edu 37 11 48373937 48373937 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000415304 -1 known p.F21 0.605 510 0% 221 24% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR4A47 403253 genome.wustl.edu 37 11 48511251 48511251 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005512.2 +1 validated p.D303Y 0.031 119 0% 67 47.8% 0 - benign(0.092) deleterious(0.05) neutral(0.352) NULL LOC120824 120824 genome.wustl.edu 37 11 48997389 48997389 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_062300.6 -1 model p.K340 0.006 195 0% 60 45% 0 - - - - HMMPfam_SPRY LOC283116 283116 genome.wustl.edu 37 11 49053305 49053305 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_208043.4 +1 model p.C52R 0.916 213 0% 114 47.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RING,superfamily_SSF57850 LOC283116 283116 genome.wustl.edu 37 11 49055822 49055822 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_208043.4 +1 model p.R211Q 0.017 647 0% 350 39.7% 0 - benign(0) tolerated(1) - NULL LOC283116 283116 genome.wustl.edu 37 11 49059070 49059070 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_208043.4 +1 model p.I300 0.000 131 0% 61 36.1% 0 - - - - NULL LOC646754 646754 genome.wustl.edu 37 11 49078895 49078895 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_929704.3 -1 model p.I181M 0.001 276 0% 83 37.3% 0 - - - - NULL FOLH1 2346 genome.wustl.edu 37 11 49178289 49178289 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004476.1 -1 reviewed p.A535T 1.000 464 0% 211 38.9% 6 16.6% possibly_damaging(0.908) tolerated(0.06) deleterious(0.684) superfamily_Zn-dependent exopeptidases FOLH1 2346 genome.wustl.edu 37 11 49221981 49221981 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004476.1 -1 reviewed p.Q79H 0.969 472 0% 214 38.3% 10 40% benign(0.024) tolerated(0.08) neutral(0.301) NULL ENSG00000123447 0 genome.wustl.edu 37 11 49437244 49437244 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000243152 -1 known p.A21V 1.000 177 0% 33 30.3% 0 - - - - superfamily_Di-copper_centre ENSG00000205035 0 genome.wustl.edu 37 11 49805590 49805590 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000357667 +1 known p.L292 1.000 62 0% 46 47.8% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I OR4A5 81318 genome.wustl.edu 37 11 51411990 51411990 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005272.3 -1 validated p.R136* 0.002 128 0% 37 51.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC440041 440041 genome.wustl.edu 37 11 55063049 55063049 + RNA SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_016142.3 -1 model NULL 0.179 101 0% 21 38.1% 0 - - - - - OR4A16 81327 genome.wustl.edu 37 11 55111048 55111048 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005274.1 +1 provisional p.I124 0.996 186 0% 62 46.8% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR4A15 81328 genome.wustl.edu 37 11 55135594 55135594 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005275.1 +1 provisional p.A79T 0.000 128 0% 41 34.1% 0 - benign(0) tolerated(0.48) neutral(0.011) HMMPfam_7tm_1,superfamily_SSF81321 OR4A15 81328 genome.wustl.edu 37 11 55135859 55135859 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005275.1 +1 provisional p.R167Q 0.000 226 0% 74 36.5% 0 - benign(0.304) tolerated(0.57) neutral(0.101) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000181943 0 genome.wustl.edu 37 11 55259392 55259392 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000314657 +1 known p.C225Y 0.963 87 0% 23 34.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C15 81309 genome.wustl.edu 37 11 55322691 55322691 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001920.1 +1 provisional p.F303L 0.855 443 0% 163 54.6% 0 - benign(0.072) deleterious(0) neutral(0.450) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4S2 219431 genome.wustl.edu 37 11 55418706 55418706 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004059.2 +1 validated p.E109D 0.997 132 0% 46 89.1% 0 - benign(0.31) tolerated(0.07) neutral(0.415) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like ENSG00000186886 0 genome.wustl.edu 37 11 55493963 55493963 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000333984 +1 known p.I53V 0.997 46 0% 22 50% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SPRYD5 84767 genome.wustl.edu 37 11 55653264 55653264 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032681.3 +1 validated p.E120D 0.857 34 0% 10 40% 0 - probably_damaging(0.97) deleterious(0.04) deleterious(0.761) HMMPfam_zf-B_box,HMMSmart_SM00336 OR5I1 10798 genome.wustl.edu 37 11 55703018 55703018 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006637.1 -1 reviewed p.L287 0.559 204 0% 41 46.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10AG1 282770 genome.wustl.edu 37 11 55735179 55735179 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005491.1 -1 provisional p.K254R 0.008 165 0% 56 41.1% 0 - benign(0.021) tolerated(0.12) neutral(0.262) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10AG1 282770 genome.wustl.edu 37 11 55735636 55735636 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005491.1 -1 provisional p.E102K 0.723 120 0% 72 9.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR8K5 219453 genome.wustl.edu 37 11 55927208 55927208 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004058.2 -1 validated p.E196* 0.000 142 0% 52 34.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8K5 219453 genome.wustl.edu 37 11 55927316 55927316 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004058.2 -1 validated p.T160A 0.011 134 0% 57 47.4% 0 - benign(0.085) tolerated(0.08) neutral(0.306) HMMPfam_7tm_1,superfamily_SSF81321 OR8J1 219477 genome.wustl.edu 37 11 56128327 56128327 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005205.1 +1 provisional p.S202Y 0.542 733 0% 219 43.4% 0 - possibly_damaging(0.515) tolerated(0.1) neutral(0.460) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8U1 219417 genome.wustl.edu 37 11 56143130 56143130 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005204.1 +1 provisional p.E11K 0.593 174 0% 52 42.3% 0 - possibly_damaging(0.877) deleterious(0.02) deleterious(0.725) superfamily_SSF81321 OR5M11 219487 genome.wustl.edu 37 11 56310546 56310546 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005245.1 -1 provisional p.L63P 1.000 97 0% 59 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR5M10 390167 genome.wustl.edu 37 11 56344390 56344390 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004741.1 -1 provisional p.E270* 0.000 259 0% 135 35.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5M1 390168 genome.wustl.edu 37 11 56380270 56380270 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004740.1 -1 provisional p.A237T 0.999 239 0% 78 34.6% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_7tm_1,superfamily_SSF81321 OR5AR1 219493 genome.wustl.edu 37 11 56431819 56431819 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004730.1 +1 provisional p.F220V 0.029 148 0% 79 38% 0 - benign(0.424) deleterious(0.01) deleterious(0.543) HMMPfam_7tm_1,superfamily_SSF81321 OR9G1 390174 genome.wustl.edu 37 11 56468245 56468245 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005213.1 +1 provisional p.P128S 1.000 216 0% 91 24.2% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_7tm_1,superfamily_SSF81321 OR5AK3P 81228 genome.wustl.edu 37 11 56738808 56738808 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000326876 +1 known p.R95Q 0.000 101 0% 19 26.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5AK2 390181 genome.wustl.edu 37 11 56756578 56756578 + Nonsense_Mutation SNP C C T rs189588796 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005323.1 +1 provisional p.Q64* 0.302 406 0% 126 41.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TNKS1BP1 85456 genome.wustl.edu 37 11 57076138 57076138 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033396.2 -1 validated p.A1349 0.000 22 0% 24 20.8% 34 23.5% - - - NULL SSRP1 6749 genome.wustl.edu 37 11 57100435 57100435 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003146.2 -1 reviewed p.E179* 1.000 24 0% 27 48.1% 67 7.4% - - - NULL SSRP1 6749 genome.wustl.edu 37 11 57100494 57100494 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003146.2 -1 reviewed p.S159F 1.000 45 0% 52 25% 78 21.7% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL P2RX3 5024 genome.wustl.edu 37 11 57117262 57117262 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002559.2 +1 reviewed p.D199N 0.993 30 0% 17 52.9% 0 - possibly_damaging(0.56) deleterious(0.04) deleterious(0.540) HMMPfam_P2X_receptor P2RX3 5024 genome.wustl.edu 37 11 57135844 57135844 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002559.2 +1 reviewed e10-1 1.000 40 0% 45 22.2% 0 - - - - - TIMM10 26519 genome.wustl.edu 37 11 57297606 57297606 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012456.2 -1 validated p.A19 0.006 158 0% 82 59.8% 154 48.7% - - - HMMPfam_zf-Tim10_DDP SMTNL1 219537 genome.wustl.edu 37 11 57314088 57314088 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105565.1 +1 provisional p.R453C 0.963 27 0% 31 41.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain SERPING1 710 genome.wustl.edu 37 11 57373855 57373855 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000403558 +1 known p.E331 0.001 159 0% 100 42% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins CLP1 10978 genome.wustl.edu 37 11 57427529 57427529 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006831.2 +1 validated p.G194D 1.000 15 0% 20 55% 11 36.3% benign(0.082) tolerated(0.29) neutral(0.035) HMMPfam_Clp1 CLP1 10978 genome.wustl.edu 37 11 57428335 57428335 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006831.2 +1 validated p.K235N 1.000 79 0% 70 44.3% 8 62.5% benign(0.338) tolerated(0.16) neutral(0.166) HMMPfam_Clp1 ZDHHC5 25921 genome.wustl.edu 37 11 57440572 57440572 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015457.2 +1 validated p.E4* 1.000 80 1.3% 80 52.5% 35 48.5% - - - NULL CTNND1 1500 genome.wustl.edu 37 11 57569472 57569472 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001085458.1 +1 validated p.K408N 1.000 44 0% 25 36% 63 49.2% benign(0.053) tolerated(0.27) neutral(0.037) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat OR5B17 219965 genome.wustl.edu 37 11 58125821 58125821 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005489.1 -1 validated p.S241Y 0.566 155 0% 52 51.9% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_SSF81321 OR5B21 219968 genome.wustl.edu 37 11 58275295 58275295 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005218.1 -1 provisional p.C95Y 1.000 58 0% 29 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 LPXN 9404 genome.wustl.edu 37 11 58294999 58294999 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143995.1 -1 reviewed p.S368 0.896 55 0% 29 79.3% 7 42.8% - - - HMMPfam_LIM,HMMSmart_LIM,superfamily_SSF57716 ZFP91 80829 genome.wustl.edu 37 11 58384744 58384744 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053023.3 +1 reviewed p.S426 1.000 100 0% 43 37.2% 31 45.1% - - - superfamily_C2H2 and C2HC zinc fingers GLYATL2 219970 genome.wustl.edu 37 11 58604570 58604570 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145016.3 -1 validated p.L132I 0.036 586 0% 241 42.3% 11 45.4% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat) FAM111B 374393 genome.wustl.edu 37 11 58892778 58892778 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198947.3 +1 validated p.P403L 0.003 121 0% 29 44.8% 2 50% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL FAM111A 63901 genome.wustl.edu 37 11 58919864 58919864 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142519.1 +1 validated p.K241 0.159 123 0% 67 10.4% 14 14.2% - - - NULL MPEG1 219972 genome.wustl.edu 37 11 58979080 58979080 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039396.1 -1 validated p.H420R 0.006 65 0% 55 47.3% 1 0% benign(0) tolerated(0.82) neutral(0.001) NULL MPEG1 219972 genome.wustl.edu 37 11 58979205 58979205 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039396.1 -1 validated p.F378 0.582 108 0% 55 38.2% 0 - - - - NULL MPEG1 219972 genome.wustl.edu 37 11 58979511 58979511 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039396.1 -1 validated p.Q276H 0.103 62 0% 32 34.4% 0 - possibly_damaging(0.819) tolerated(0.52) neutral(0.318) HMMPfam_MACPF,HMMSmart_MACPF OR4D6 219983 genome.wustl.edu 37 11 59224439 59224439 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004708.1 +1 provisional p.D2 0.000 285 0% 127 22.8% 0 - - - - superfamily_SSF81321 OR4D10 390197 genome.wustl.edu 37 11 59244942 59244942 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004705.1 +1 provisional p.F14V 0.577 129 0% 48 22.9% 0 - benign(0.008) deleterious(0) neutral(0.445) superfamily_Family A G protein-coupled receptor-like OSBP 5007 genome.wustl.edu 37 11 59344334 59344334 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002556.2 -1 reviewed p.K742T 1.000 100 0% 61 42.6% 45 42.2% probably_damaging(0.956) deleterious(0.01) deleterious(0.805) HMMPfam_Oxysterol_BP OSBP 5007 genome.wustl.edu 37 11 59344394 59344394 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002556.2 -1 reviewed p.R722I 1.000 103 0% 69 46.4% 39 56.4% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Oxysterol_BP OSBP 5007 genome.wustl.edu 37 11 59344432 59344432 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002556.2 -1 reviewed p.G709 0.997 97 0% 66 43.9% 45 48.8% - - - HMMPfam_Oxysterol_BP OSBP 5007 genome.wustl.edu 37 11 59361572 59361572 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002556.2 -1 reviewed p.R490C 1.000 100 1% 54 44.4% 41 56% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Oxysterol_BP OSBP 5007 genome.wustl.edu 37 11 59367978 59367978 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002556.2 -1 reviewed p.I434 1.000 338 0.3% 145 37.9% 26 57.6% - - - HMMPfam_Oxysterol_BP MRPL16 54948 genome.wustl.edu 37 11 59574260 59574260 + Missense_Mutation SNP G G A rs189178507 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017840.3 -1 reviewed p.R106C 1.000 71 0% 50 34% 89 43.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribosomal_L16,superfamily_Ribosomal protein L10e GIF 2694 genome.wustl.edu 37 11 59599249 59599249 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005142.2 -1 reviewed p.S365Y 1.000 162 0% 86 37.2% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL MS4A5 64232 genome.wustl.edu 37 11 60201251 60201251 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023945.2 +1 reviewed p.R118Q 0.000 376 0% 190 37.9% 0 - benign(0.092) tolerated(0.33) neutral(0.031) HMMPfam_CD20 MS4A10 341116 genome.wustl.edu 37 11 60561444 60561444 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206893.3 +1 validated e4-1 0.278 87 1.1% 63 36.5% 0 - - - - - PTGDR2 11251 genome.wustl.edu 37 11 60621053 60621053 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004778.2 -1 reviewed p.V48A 0.920 14 0% 19 36.8% 1 0% benign(0.003) tolerated(0.4) neutral(0.016) superfamily_Family A G protein-coupled receptor-like ZP1 22917 genome.wustl.edu 37 11 60640951 60640951 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207341.2 +1 validated p.P448 0.019 27 0% 32 43.8% 0 - - - - HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1 PRPF19 27339 genome.wustl.edu 37 11 60666051 60666051 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014502.4 -1 validated p.G368* 1.000 62 0% 45 31.1% 88 5.6% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 TMEM132A 54972 genome.wustl.edu 37 11 60695121 60695121 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017870.3 +1 reviewed p.P108 0.018 51 0% 35 11.4% 71 4.2% - - - NULL CD5 921 genome.wustl.edu 37 11 60889151 60889151 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014207.3 +1 validated p.R292C 0.998 12 0% 10 60% 2 0% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like VWCE 220001 genome.wustl.edu 37 11 61026468 61026468 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000301770 -1 known p.D563N 0.000 17 0% 26 50% 3 66.6% - - - NULL DDB1 1642 genome.wustl.edu 37 11 61068359 61068359 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001923.3 -1 validated p.G1087 0.993 140 0.7% 126 40.5% 201 45.7% benign(0.002) tolerated(0.79) neutral(0.001) NULL DDB1 1642 genome.wustl.edu 37 11 61079536 61079536 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001923.3 -1 validated p.S697N 1.000 70 0% 45 15.6% 153 19.6% benign(0) tolerated(1) - NULL DAK 26007 genome.wustl.edu 37 11 61110107 61110107 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015533.3 +1 reviewed p.A251V 0.000 32 0% 25 40% 30 53.3% benign(0) tolerated(0.4) neutral(0.016) HMMPfam_Dak1,superfamily_DAK1/DegV-like CYBASC3 220002 genome.wustl.edu 37 11 61121464 61121464 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153611.4 -1 validated p.A62V 0.972 26 0% 34 58.8% 24 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Cytochrom_B561,HMMSmart_B561 TMEM138 51524 genome.wustl.edu 37 11 61133663 61133663 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016464.4 +1 validated p.S92I 1.000 276 0% 189 20.6% 14 14.2% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL CPSF7 79869 genome.wustl.edu 37 11 61178465 61178465 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024811.3 -1 validated p.N499H 1.000 64 1.6% 49 32.7% 47 46.8% unknown(0) tolerated(0.47) - NULL SYT7 9066 genome.wustl.edu 37 11 61290682 61290682 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004200.2 -1 validated p.T324 0.002 178 0% 143 37.8% 14 50% - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB C11orf9 745 genome.wustl.edu 37 11 61546883 61546883 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127392.1 +1 validated p.S721L 0.996 5 0.000 9 0.556 0 - possibly_damaging(0.496) tolerated(0.13) neutral(0.418) NULL C11orf9 745 genome.wustl.edu 37 11 61547732 61547732 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127392.1 +1 validated p.R792H 0.995 20 0% 22 54.5% 2 50% possibly_damaging(0.696) tolerated(0.29) neutral(0.279) NULL FEN1 2237 genome.wustl.edu 37 11 61563791 61563791 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004111.4 +1 reviewed p.R320* 1.000 37 0% 31 41.9% 56 25% - - - superfamily_5' to 3' exonuclease C-terminal subdomain FADS3 3995 genome.wustl.edu 37 11 61644404 61644404 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021727.3 -1 reviewed p.R306H 1.000 45 0% 61 44.3% 24 29.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FA_desaturase AHNAK 79026 genome.wustl.edu 37 11 62286693 62286693 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001620.1 -1 validated p.G5066W 0.427 184 0.5% 106 48.1% 105 53.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TUT1 64852 genome.wustl.edu 37 11 62356537 62356537 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000463241 -1 known p.W120* 1.000 74 0% 48 47.9% 18 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD MTA2 9219 genome.wustl.edu 37 11 62361360 62361360 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004739.2 -1 reviewed p.V665D 1.000 18 0% 25 32% 238 47.4% benign(0.396) deleterious(0) deleterious(0.572) NULL MTA2 9219 genome.wustl.edu 37 11 62362898 62362898 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004739.2 -1 reviewed p.A441T 1.000 130 0% 77 48.1% 87 44.8% benign(0.002) tolerated(0.36) neutral(0.020) NULL B3GAT3 26229 genome.wustl.edu 37 11 62384485 62384485 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012200.2 -1 reviewed p.T198A 1.000 37 0% 29 51.7% 44 54.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Glyco_transf_43,superfamily_SSF53448 C11orf48 79081 genome.wustl.edu 37 11 62435059 62435059 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024099.3 -1 validated p.G158 0.028 102 0% 71 46.5% 4 50% unknown(0) - - NULL HNRNPUL2 221092 genome.wustl.edu 37 11 62489627 62489627 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079559.1 -1 provisional p.R441C 0.934 31 0% 32 46.9% 171 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZBTB3 79842 genome.wustl.edu 37 11 62520615 62520615 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024784.3 -1 validated p.S224 0.000 36 0% 40 12.5% 2 0% - - - NULL TAF6L 10629 genome.wustl.edu 37 11 62546350 62546350 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006473.2 +1 reviewed p.A149V 1.000 43 0% 34 38.2% 15 26.6% benign(0.104) tolerated(0.2) neutral(0.057) NULL CHRM1 1128 genome.wustl.edu 37 11 62677246 62677246 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000738.2 -1 reviewed p.R443C 1.000 23 0% 19 57.9% 1 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Family A G protein-coupled receptor-like CHRM1 1128 genome.wustl.edu 37 11 62677587 62677587 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000738.2 -1 reviewed p.P329L 1.000 17 0% 25 28% 1 0% benign(0.015) tolerated(0.12) neutral(0.261) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLC22A6 9356 genome.wustl.edu 37 11 62749417 62749417 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004790.3 -1 reviewed p.L232 0.110 16 0% 24 54.2% 0 - unknown(0) tolerated(0.15) - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A8 9376 genome.wustl.edu 37 11 62782192 62782192 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004254.3 -1 reviewed p.P80L 0.004 61 0% 62 43.5% 0 - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_MFS_1 SLC22A25 387601 genome.wustl.edu 37 11 62951206 62951206 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199352.3 -1 validated p.R305M 0.006 519 0% 203 18.2% 0 - benign(0.099) tolerated(0.24) neutral(0.045) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A9 114571 genome.wustl.edu 37 11 63149733 63149733 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080866.2 +1 validated p.L353F 0.000 237 0% 95 43.2% 0 - benign(0.057) tolerated(0.43) neutral(0.017) HMMPfam_MFS_1,superfamily_MFS general substrate transporter OTUB1 55611 genome.wustl.edu 37 11 63764651 63764651 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017670.2 +1 reviewed p.R185C 0.513 17 0% 27 33.3% 222 27.9% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Peptidase_C65,superfamily_Cysteine proteinases STIP1 10963 genome.wustl.edu 37 11 63961950 63961950 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006819.2 +1 validated e4-1 1.000 163 0% 85 35.3% 0 - - - - - NUDT22 84304 genome.wustl.edu 37 11 63994315 63994315 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128612.1 +1 validated p.H64R 1.000 6 0.000 12 0.333 79 55.6% probably_damaging(0.992) tolerated(0.4) neutral(0.464) NULL PLCB3 5331 genome.wustl.edu 37 11 64029468 64029468 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000932.2 +1 reviewed p.R653H 0.999 46 0% 47 10.6% 61 8.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_PLC-like phosphodiesterases ESRRA 2101 genome.wustl.edu 37 11 64081786 64081786 + Missense_Mutation SNP C C T rs45585533 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004451.3 +1 reviewed p.P173L 0.995 10 0.000 7 0.714 33 30.3% unknown(0) deleterious(0) - superfamily_Nuclear receptor ligand-binding domain NRXN2 9379 genome.wustl.edu 37 11 64375247 64375247 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015080.2 -1 reviewed p.V1520 1.000 14 0% 19 21.1% 1 0% - - - NULL NRXN2 9379 genome.wustl.edu 37 11 64390230 64390230 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015080.2 -1 reviewed p.T1390A 1.000 10 0% 11 45.5% 2 0% possibly_damaging(0.476) deleterious(0.01) deleterious(0.562) NULL NRXN2 9379 genome.wustl.edu 37 11 64453286 64453286 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000437746 -1 known p.A118T 1.000 82 0% 86 25.6% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 PYGM 5837 genome.wustl.edu 37 11 64519513 64519513 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005609.2 -1 reviewed p.E551* 0.999 180 0.6% 150 16% 1 0% - - - HMMPfam_Phosphorylase,superfamily_SSF53756 CDC42BPG 55561 genome.wustl.edu 37 11 64594829 64594829 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017525.2 -1 validated p.R1398W 1.000 21 0% 25 24% 49 53% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATG2A 23130 genome.wustl.edu 37 11 64674868 64674868 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418259 -1 known p.G699* 0.975 29 0% 26 46.2% 14 85.7% possibly_damaging(0.767) tolerated(0.08) deleterious(0.585) NULL ATG2A 23130 genome.wustl.edu 37 11 64675105 64675105 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015104.2 -1 validated p.A847T 0.106 17 0% 15 60% 5 20% benign(0.003) tolerated(1) - NULL GPHA2 170589 genome.wustl.edu 37 11 64702571 64702571 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130769.3 -1 validated p.H60Q 1.000 11 0.000 7 0.714 2 100% possibly_damaging(0.733) deleterious(0.05) deleterious(0.613) NULL ZFPL1 7542 genome.wustl.edu 37 11 64852705 64852705 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000453524 +1 known p.A74V 0.131 21 0% 17 29.4% 9 88.8% unknown(0) tolerated(0.29) - NULL C11orf2 738 genome.wustl.edu 37 11 64878206 64878206 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013265.2 +1 provisional p.L681I 1.000 113 0% 114 12.3% 119 15.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TM7SF2 7108 genome.wustl.edu 37 11 64882969 64882969 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003273.2 +1 validated p.A332V 1.000 60 0% 62 14.5% 139 11.5% benign(0.012) tolerated(0.18) neutral(0.057) HMMPfam_ERG4_ERG24 SYVN1 84447 genome.wustl.edu 37 11 64897591 64897591 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172230.2 -1 reviewed p.T431A 0.000 16 0% 25 44% 52 50% unknown(0) tolerated(0.8) - NULL LOC100287960 100287960 genome.wustl.edu 37 11 64913224 64913224 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343095.1 -1 model p.A105S 1.000 53 0% 20 55% 0 - - - - HMMPfam_HIG_1_N SPDYC 387778 genome.wustl.edu 37 11 64938873 64938873 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008778.1 +1 provisional p.T34 0.018 30 0% 37 40.5% 1 100% - - - NULL CAPN1 823 genome.wustl.edu 37 11 64953462 64953462 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005186.2 +1 reviewed p.F177 0.971 31 0% 26 53.8% 191 50.7% - - - HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 CAPN1 823 genome.wustl.edu 37 11 64956181 64956181 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005186.2 +1 reviewed p.R377W 1.000 10 0% 23 60.9% 106 45.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 CAPN1 823 genome.wustl.edu 37 11 64976836 64976836 + Missense_Mutation SNP G G A rs190935218 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005186.2 +1 reviewed p.R591H 1.000 117 0% 122 45.1% 307 43.9% possibly_damaging(0.797) deleterious(0.02) deleterious(0.682) HMMSmart_EFh,superfamily_SSF47473 POLA2 23649 genome.wustl.edu 37 11 65061677 65061677 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002689.2 +1 provisional p.P433H 0.911 142 0% 117 41% 26 34.6% possibly_damaging(0.753) tolerated(0.54) neutral(0.284) HMMPfam_DNA_pol_E_B DPF2 5977 genome.wustl.edu 37 11 65107878 65107878 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006268.3 +1 reviewed p.D19Y 1.000 55 0% 46 39.1% 48 43.7% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SCYL1 57410 genome.wustl.edu 37 11 65303430 65303430 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020680.3 +1 reviewed p.H465D 1.000 35 0% 36 22.2% 122 12.2% benign(0) tolerated(0.17) neutral(0.059) superfamily_ARM repeat EHBP1L1 254102 genome.wustl.edu 37 11 65350558 65350558 + Missense_Mutation SNP G G T rs184817605 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099409.1 +1 validated p.E805D 0.000 54 0% 38 36.8% 23 56.5% benign(0.073) tolerated(0.43) neutral(0.018) NULL MAP3K11 4296 genome.wustl.edu 37 11 65365772 65365772 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002419.3 -1 reviewed p.A845V 0.931 6 0.000 5 0.800 57 35% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL MAP3K11 4296 genome.wustl.edu 37 11 65375814 65375814 + Missense_Mutation SNP G G A rs34594252 byCluster TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002419.3 -1 reviewed p.A282V 0.994 20 0% 26 53.8% 68 47% possibly_damaging(0.561) tolerated(0.51) neutral(0.201) HMMSmart_TyrKc,superfamily_Kinase_like,HMMPfam_Pkinase PCNXL3 399909 genome.wustl.edu 37 11 65392707 65392707 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032223.2 +1 validated p.L995 0.997 28 0% 27 40.7% 30 43.3% - - - NULL RELA 5970 genome.wustl.edu 37 11 65426231 65426231 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021975.3 -1 validated p.G208S 0.999 47 0% 59 54.2% 104 33.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains KAT5 10524 genome.wustl.edu 37 11 65486210 65486210 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182710.1 +1 reviewed p.I472L 1.000 45 0% 50 48% 50 32% benign(0.044) tolerated(0.13) neutral(0.255) HMMPfam_MOZ_SAS,superfamily_Acyl-CoA N-acyltransferases (Nat) CFL1 1072 genome.wustl.edu 37 11 65622870 65622870 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005507.2 -1 validated p.R146 0.993 25 0% 17 41.2% 1434 43.7% - - - HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins FIBP 9158 genome.wustl.edu 37 11 65655150 65655150 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198897.1 -1 reviewed p.K111T 1.000 85 0% 57 52.6% 179 47.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FIBP BANF1 8815 genome.wustl.edu 37 11 65771208 65771208 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143985.1 +1 reviewed p.G79R 1.000 71 0% 59 44.1% 421 45.1% benign(0.031) tolerated(0.19) neutral(0.051) HMMPfam_BAF,superfamily_Barrier-to-autointegration factor BAF CATSPER1 117144 genome.wustl.edu 37 11 65788061 65788061 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053054.3 -1 reviewed p.I655 0.999 58 0% 60 31.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KLC2 64837 genome.wustl.edu 37 11 66029413 66029413 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134775.1 +1 validated p.I143 0.981 14 0% 19 26.3% 39 23% - - - HMMPfam_Rab5-bind YIF1A 10897 genome.wustl.edu 37 11 66055641 66055641 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020470.2 -1 validated p.N52D 1.000 12 0% 19 31.6% 114 51.7% benign(0.007) tolerated(0.66) neutral(0.003) NULL BRMS1 25855 genome.wustl.edu 37 11 66108292 66108292 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024957.1 -1 reviewed p.R163Q 1.000 10 0% 21 57.1% 51 35.2% possibly_damaging(0.478) deleterious(0.01) deleterious(0.564) HMMPfam_Sds3 BRMS1 25855 genome.wustl.edu 37 11 66108691 66108691 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024957.1 -1 reviewed p.R115H 0.999 21 0% 23 30.4% 46 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sds3 B3GNT1 11041 genome.wustl.edu 37 11 66114164 66114164 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006876.2 -1 reviewed p.R285W 1.000 11 0% 13 38.5% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BBS1 582 genome.wustl.edu 37 11 66297335 66297335 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024649.4 +1 reviewed p.R462H 1.000 14 0% 20 50% 31 45.1% possibly_damaging(0.736) tolerated(0.12) deleterious(0.530) NULL ACTN3 89 genome.wustl.edu 37 11 66322638 66322638 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001104.1 +1 reviewed p.R199* 1.000 39 0% 40 45% 0 - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain CTSF 8722 genome.wustl.edu 37 11 66333817 66333817 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003793.3 -1 reviewed p.Q222H 1.000 58 0% 63 23.8% 20 10% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMPfam_Inhibitor_I29 RBM14 10432 genome.wustl.edu 37 11 66393144 66393144 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006328.3 +1 validated p.S599 0.999 11 0% 20 45% 61 45.9% - - - NULL SPTBN2 6712 genome.wustl.edu 37 11 66455038 66455038 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006946.2 -1 reviewed p.M2194I 0.825 4 0.000 12 0.500 16 50% benign(0.071) tolerated(0.45) neutral(0.017) HMMSmart_SM00150 SPTBN2 6712 genome.wustl.edu 37 11 66478433 66478433 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006946.2 -1 reviewed p.F280L 1.000 63 0% 54 42.6% 17 52.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,superfamily_Calponin-homology domain CH-domain C11orf80 79703 genome.wustl.edu 37 11 66515980 66515980 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024650.3 +1 validated p.V103A 1.000 230 0% 132 10.6% 4 0% unknown(0) deleterious(0.03) - NULL PC 5091 genome.wustl.edu 37 11 66620276 66620276 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000920.3 -1 reviewed p.P515 0.459 38 0% 44 45.5% 10 40% - - - NULL SYT12 91683 genome.wustl.edu 37 11 66807630 66807630 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177963.3 +1 reviewed p.R193C 1.000 14 0% 13 76.9% 5 40% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB KDM2A 22992 genome.wustl.edu 37 11 66983344 66983344 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012308.2 +1 reviewed p.V204A 1.000 409 0% 277 44.4% 40 55% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like ADRBK1 156 genome.wustl.edu 37 11 67048957 67048957 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001619.3 +1 reviewed p.K225N 1.000 21 0% 26 30.8% 106 40.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SSH3 54961 genome.wustl.edu 37 11 67074413 67074413 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017857.3 +1 validated p.G148 0.519 28 0% 32 50% 26 26.9% - - - NULL TBC1D10C 374403 genome.wustl.edu 37 11 67174444 67174444 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198517.2 +1 provisional p.P265 1.000 17 0% 16 43.8% 3 0% - - - HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC PPP1CA 5499 genome.wustl.edu 37 11 67186935 67186935 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000451458 -1 known p.G97D 0.002 7 0.000 11 0.455 2 50% benign(0.01) deleterious(0.01) neutral(0.406) NULL GPR152 390212 genome.wustl.edu 37 11 67218934 67218934 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206997.1 -1 validated p.S421Y 0.002 43 0% 37 51.4% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL GPR152 390212 genome.wustl.edu 37 11 67219398 67219398 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206997.1 -1 validated p.D266 0.975 16 0% 16 25% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CABP4 57010 genome.wustl.edu 37 11 67225891 67225891 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145200.3 +1 reviewed p.A234V 0.993 39 0% 28 21.4% 1 0% benign(0.083) tolerated(0.25) neutral(0.043) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand PITPNM1 9600 genome.wustl.edu 37 11 67265041 67265041 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004910.2 -1 validated p.R631H 0.931 12 0% 12 50% 40 50% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL PITPNM1 9600 genome.wustl.edu 37 11 67269544 67269544 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004910.2 -1 validated p.I143 0.985 13 0% 13 46.2% 32 46.8% - - - HMMPfam_IP_trans,superfamily_Bet v1-like NDUFV1 4723 genome.wustl.edu 37 11 67378977 67378977 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007103.3 +1 reviewed p.F339 0.998 16 0% 26 46.2% 208 36.5% - - - NULL ACY3 91703 genome.wustl.edu 37 11 67412589 67412589 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080658.1 -1 validated p.L187 0.913 25 0% 21 28.6% 0 - - - - HMMPfam_AstE_AspA ALDH3B2 222 genome.wustl.edu 37 11 67431886 67431886 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000695.3 -1 reviewed p.A285V 1.000 11 0% 23 30.4% 4 25% benign(0.134) tolerated(0.88) neutral(0.011) HMMPfam_Aldedh,superfamily_ALDH-like NDUFS8 4728 genome.wustl.edu 37 11 67803719 67803719 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002496.3 +1 reviewed e5-1 1.000 13 0% 12 41.7% 42 95.2% - - - - TCIRG1 10312 genome.wustl.edu 37 11 67811329 67811329 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006019.2 +1 reviewed p.L254 0.000 11 0% 17 35.3% 32 43.7% - - - HMMPfam_V_ATPase_I TCIRG1 10312 genome.wustl.edu 37 11 67816587 67816587 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006019.2 +1 reviewed p.L571 0.992 42 0% 38 50% 49 36.7% - - - HMMPfam_V_ATPase_I TCIRG1 10312 genome.wustl.edu 37 11 67817500 67817500 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006019.2 +1 reviewed p.K695N 0.912 24 0% 20 30% 79 34.1% benign(0.124) tolerated(0.4) neutral(0.026) HMMPfam_V_ATPase_I CHKA 1119 genome.wustl.edu 37 11 67833940 67833940 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001277.2 -1 reviewed p.Q324H 1.000 364 0% 177 44.6% 42 42.8% benign(0.27) tolerated(0.11) neutral(0.301) HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like) PPP6R3 55291 genome.wustl.edu 37 11 68338536 68338536 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018312.4 +1 validated p.R385Q 1.000 526 0% 236 35.6% 15 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SAPS CPT1A 1374 genome.wustl.edu 37 11 68540785 68540785 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001876.3 -1 reviewed p.R563H 0.150 68 0% 55 43.6% 13 30.7% probably_damaging(0.963) tolerated(0.11) deleterious(0.677) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases MRGPRD 116512 genome.wustl.edu 37 11 68747819 68747819 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198923.2 -1 validated p.R213W 0.003 30 0% 25 16% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 TPCN2 219931 genome.wustl.edu 37 11 68830358 68830358 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139075.3 +1 reviewed p.R185W 0.996 37 2.7% 47 51.1% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 ANO1 55107 genome.wustl.edu 37 11 69978084 69978084 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018043.5 +1 validated p.C386Y 1.000 19 0% 18 38.9% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANO1 55107 genome.wustl.edu 37 11 70007357 70007357 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018043.5 +1 validated p.R557W 0.962 30 0% 25 40% 10 10% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL PPFIA1 8500 genome.wustl.edu 37 11 70118340 70118340 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003626.2 +1 reviewed p.G21D 1.000 21 0% 30 26.7% 8 87.5% benign(0.004) tolerated(0.08) neutral(0.300) NULL MIR548K 100313770 genome.wustl.edu 37 11 70130104 70130104 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000408406 +1 known NULL 0.001 342 0% 159 46.5% 0 - - - - - PPFIA1 8500 genome.wustl.edu 37 11 70171044 70171044 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003626.2 +1 reviewed p.G153D 0.999 30 0% 18 55.6% 21 38% probably_damaging(0.985) tolerated(0.05) deleterious(0.777) NULL CTTN 2017 genome.wustl.edu 37 11 70269062 70269062 + Silent SNP C C T rs190841561 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005231.3 +1 reviewed p.F306 0.987 182 0% 185 45.9% 87 79.3% unknown(0) - - HMMPfam_HS1_rep SHANK2 22941 genome.wustl.edu 37 11 70331580 70331580 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012309.3 -1 reviewed p.G1011 0.016 49 0% 39 23.1% 5 20% - - - NULL SHANK2 22941 genome.wustl.edu 37 11 70348347 70348347 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012309.3 -1 reviewed p.R160C 1.000 12 0% 27 37% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SHANK2 22941 genome.wustl.edu 37 11 70829966 70829966 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000338508 -1 known p.A107V 1.000 33 0% 39 33.3% 7 42.8% possibly_damaging(0.736) deleterious(0.01) deleterious(0.675) NULL DHCR7 1717 genome.wustl.edu 37 11 71155072 71155072 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001360.2 -1 reviewed p.A96 0.007 10 0% 12 41.7% 50 60% - - - NULL KRTAP5-8 57830 genome.wustl.edu 37 11 71249298 71249298 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021046.2 +1 validated p.S66Y 0.000 43 0% 66 34.8% 0 - unknown(0) tolerated(0.13) - NULL KRTAP5-9 3846 genome.wustl.edu 37 11 71259761 71259761 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005553.3 +1 validated p.S20G 0.994 33 0% 40 50% 0 - unknown(0) tolerated(0.25) - NULL NUMA1 4926 genome.wustl.edu 37 11 71725098 71725098 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006185.2 -1 validated p.E1151K 0.041 16 0% 10 60% 140 52.1% possibly_damaging(0.791) tolerated(0.33) neutral(0.321) NULL NUMA1 4926 genome.wustl.edu 37 11 71726953 71726953 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006185.2 -1 validated p.Q532 1.000 62 0% 55 12.7% 82 24.3% - - - superfamily_Prefoldin NUMA1 4926 genome.wustl.edu 37 11 71734140 71734140 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006185.2 -1 validated p.L88 0.232 116 0% 66 37.9% 49 48.9% - - - NULL LAMTOR1 55004 genome.wustl.edu 37 11 71809842 71809842 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017907.1 -1 provisional p.R84H 1.000 18 0% 22 36.4% 218 45.4% unknown(0) - - NULL INPPL1 3636 genome.wustl.edu 37 11 71939417 71939417 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001567.3 +1 reviewed p.R91H 1.000 17 0% 22 50% 54 48.1% probably_damaging(0.998) tolerated(0.56) deleterious(0.481) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 INPPL1 3636 genome.wustl.edu 37 11 71948375 71948375 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001567.3 +1 reviewed p.H1029 0.502 12 0% 23 39.1% 120 47.5% - - - NULL CLPB 81570 genome.wustl.edu 37 11 72040814 72040814 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030813.3 -1 provisional p.H300 1.000 131 0% 71 47.9% 7 57.1% - - - HMMPfam_Ank,superfamily_Ankyrin repeat PDE2A 5138 genome.wustl.edu 37 11 72296417 72296417 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002599.3 -1 validated p.E428D 1.000 42 0% 54 50% 1 0% benign(0.04) tolerated(0.11) neutral(0.274) HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like P2RY2 5029 genome.wustl.edu 37 11 72945967 72945967 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002564.2 +1 reviewed p.A255T 0.472 22 0% 20 35% 5 60% benign(0.004) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RELT 84957 genome.wustl.edu 37 11 73101935 73101935 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032871.3 +1 reviewed p.R86* 0.001 16 0% 27 51.9% 7 14.2% - - - HMMSmart_TNFR C2CD3 26005 genome.wustl.edu 37 11 73789451 73789451 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015531.4 -1 validated p.R1438C 0.996 59 1.7% 49 40.8% 18 77.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C2CD3 26005 genome.wustl.edu 37 11 73829348 73829348 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015531.4 -1 validated p.A482D 0.000 264 0.8% 101 42.6% 1 100% benign(0.001) deleterious(0.01) neutral(0.406) NULL NEU3 10825 genome.wustl.edu 37 11 74716968 74716968 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006656.5 +1 reviewed p.L273I 0.997 45 0% 23 60.9% 3 66.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Sialidase NEU3 10825 genome.wustl.edu 37 11 74717222 74717222 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006656.5 +1 reviewed p.P357 0.000 68 0% 42 42.9% 7 71.4% - - - superfamily_Sialidase OR2AT4 341152 genome.wustl.edu 37 11 74800064 74800064 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005285.1 -1 provisional p.R232H 0.967 52 0% 24 58.3% 0 - benign(0.053) tolerated(0.07) neutral(0.323) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLCO2B1 11309 genome.wustl.edu 37 11 74880247 74880247 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007256.3 +1 validated p.L160M 1.000 42 0% 35 48.6% 3 0% benign(0.108) deleterious(0.02) neutral(0.392) HMMPfam_OATP,superfamily_MFS general substrate transporter RPS3 6188 genome.wustl.edu 37 11 75115080 75115080 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005.3 +1 reviewed p.L123 1.000 103 0% 67 46.3% 3440 45.8% benign(0) tolerated(0.1) neutral(0.286) HMMPfam_Ribosomal_S3_C,superfamily_Ribosomal protein S3 C-terminal domain GDPD5 81544 genome.wustl.edu 37 11 75154243 75154243 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030792.6 -1 validated p.P296T 0.047 16 0% 12 50% 2 100% benign(0.332) tolerated(0.23) neutral(0.145) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases MAP6 4135 genome.wustl.edu 37 11 75379374 75379374 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033063.1 -1 reviewed p.R14H 1.000 7 0.000 5 0.800 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_STOP OMP 4975 genome.wustl.edu 37 11 76814283 76814283 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006189.1 +1 reviewed p.A133V 1.000 7 0.000 12 0.417 1 100% benign(0.034) deleterious(0) neutral(0.447) HMMPfam_Olfactory_mark,superfamily_Olfactory_marker MYO7A 4647 genome.wustl.edu 37 11 76917144 76917144 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000260.3 +1 reviewed p.N1880S 0.996 37 0% 40 17.5% 3 0% benign(0.081) tolerated(0.57) neutral(0.012) HMMPfam_MyTH4,HMMSmart_SM00139 GDPD4 220032 genome.wustl.edu 37 11 76956411 76956411 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182833.1 -1 provisional p.R334H 0.001 438 0% 270 45.6% 0 - benign(0.247) tolerated(0.12) neutral(0.286) HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl GDPD4 220032 genome.wustl.edu 37 11 76980112 76980112 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182833.1 -1 provisional p.L161 0.917 118 0% 47 38.3% 0 - - - - NULL C11orf67 28971 genome.wustl.edu 37 11 77580824 77580824 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024684.2 +1 predicted p.Q63H 0.996 241 0% 150 40% 88 44.3% possibly_damaging(0.465) deleterious(0.03) deleterious(0.517) HMMPfam_DUF498,superfamily_Hypothetical protein MT938 (MTH938) INTS4 92105 genome.wustl.edu 37 11 77614592 77614592 + Silent SNP C C T rs12532775 by2Hit2Allele;byHapMap TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033547.3 -1 validated p.A697 1.000 98 3.1% 58 53.4% 22 40.9% - - - NULL KCTD14 65987 genome.wustl.edu 37 11 77727774 77727774 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023930.3 -1 validated p.S211 0.000 164 0% 98 12.2% 52 5.7% - - - NULL ALG8 79053 genome.wustl.edu 37 11 77815464 77815464 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024079.4 -1 reviewed p.I405S 0.837 263 0% 147 46.3% 39 33.3% benign(0.002) tolerated(0.4) neutral(0.016) HMMPfam_Alg6_Alg8 KCTD21 283219 genome.wustl.edu 37 11 77884839 77884839 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029859.1 -1 provisional p.I254 0.998 39 0% 29 48.3% 5 40% - - - NULL KCTD21 283219 genome.wustl.edu 37 11 77885195 77885195 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029859.1 -1 provisional p.L136F 1.000 74 0% 61 50.8% 11 54.5% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL GAB2 9846 genome.wustl.edu 37 11 77931374 77931374 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080491.2 -1 reviewed p.P626 0.996 14 0% 18 61.1% 8 62.5% - - - NULL NARS2 79731 genome.wustl.edu 37 11 78147834 78147834 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024678.4 -1 validated p.S439F 1.000 150 0% 74 50% 50 46% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases ODZ4 26011 genome.wustl.edu 37 11 78369475 78369475 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098816.2 -1 validated p.N2646 0.773 37 0% 49 28.6% 8 62.5% - - - NULL ODZ4 26011 genome.wustl.edu 37 11 78381549 78381549 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098816.2 -1 validated p.F1947 0.901 52 0% 42 50% 0 - - - - NULL ODZ4 26011 genome.wustl.edu 37 11 78412977 78412977 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098816.2 -1 validated p.R1561W 1.000 67 0% 53 45.3% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_NHL,superfamily_SSF101898,superfamily_TolB_C ODZ4 26011 genome.wustl.edu 37 11 78419504 78419504 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098816.2 -1 validated p.R1371C 1.000 56 0% 36 11.1% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF101898,superfamily_TolB_C ODZ4 26011 genome.wustl.edu 37 11 78574091 78574091 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098816.2 -1 validated p.P391S 1.000 27 0% 28 50% 1 100% possibly_damaging(0.822) tolerated(0.21) neutral(0.355) NULL RAB30 27314 genome.wustl.edu 37 11 82698772 82698772 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014488.3 -1 provisional p.S73Y 1.000 142 0% 53 41.5% 8 37.5% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases DLG2 1740 genome.wustl.edu 37 11 83182744 83182744 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142699.1 -1 reviewed p.L791M 1.000 100 0% 36 19.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SH3-domain,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases TMEM126A 84233 genome.wustl.edu 37 11 85365187 85365187 + Missense_Mutation SNP G G A rs192269199 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032273.3 +1 validated p.R56H 0.967 195 0% 87 34.5% 46 34.7% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_DUF1370 CCDC89 220388 genome.wustl.edu 37 11 85396115 85396115 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152723.1 -1 provisional p.K353N 1.000 101 0% 78 38.5% 0 - possibly_damaging(0.589) deleterious(0) deleterious(0.647) NULL SYTL2 54843 genome.wustl.edu 37 11 85407283 85407283 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206927.2 -1 reviewed p.D1206N 1.000 221 0% 112 45.5% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYTL2 54843 genome.wustl.edu 37 11 85437245 85437245 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206927.2 -1 reviewed p.E85D 0.046 747 0% 331 42.3% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL SYTL2 54843 genome.wustl.edu 37 11 85437514 85437514 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000359152 -1 known p.S520P 0.479 99 0% 49 49% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL PICALM 8301 genome.wustl.edu 37 11 85711815 85711815 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007166.2 -1 validated p.R342H 1.000 190 0% 84 38.1% 56 42.8% benign(0.309) deleterious(0.02) deleterious(0.480) NULL EED 8726 genome.wustl.edu 37 11 85963241 85963241 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003797.2 +1 reviewed p.E107K 1.000 384 0% 159 37.1% 15 20% benign(0.002) tolerated(0.79) neutral(0.001) HMMSmart_SM00320,superfamily_WD40 repeat-like EED 8726 genome.wustl.edu 37 11 85989563 85989563 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003797.2 +1 reviewed p.R441Q 1.000 104 0% 68 54.4% 35 22.8% benign(0.07) tolerated(0.23) neutral(0.046) NULL CCDC81 60494 genome.wustl.edu 37 11 86097148 86097148 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021827.4 +1 validated p.L45 0.656 180 0.6% 59 39% 0 - - - - NULL ME3 10873 genome.wustl.edu 37 11 86161399 86161399 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001014811.1 -1 reviewed p.R321* 0.581 66 0% 43 51.2% 4 50% - - - HMMPfam_Malic_M,superfamily_NAD(P)-bd PRSS23 11098 genome.wustl.edu 37 11 86519220 86519220 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007173.4 +1 validated p.D179N 1.000 27 0% 24 29.2% 21 4.7% possibly_damaging(0.537) tolerated(0.3) neutral(0.210) HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases PRSS23 11098 genome.wustl.edu 37 11 86519543 86519543 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007173.4 +1 validated p.R286 0.371 51 0% 42 31% 28 7.1% - - - superfamily_Trypsin-like serine proteases TMEM135 65084 genome.wustl.edu 37 11 87024514 87024514 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022918.3 +1 validated p.L328 0.812 230 0% 65 50.8% 8 87.5% - - - NULL RAB38 23682 genome.wustl.edu 37 11 87847293 87847293 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022337.1 -1 provisional p.D167N 0.997 62 0% 33 39.4% 6 16.6% benign(0.01) tolerated(0.31) neutral(0.028) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 GRM5 2915 genome.wustl.edu 37 11 88301141 88301141 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143831.2 -1 reviewed p.V570 0.717 59 0% 33 33.3% 0 - - - - NULL GRM5 2915 genome.wustl.edu 37 11 88780544 88780544 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143831.2 -1 reviewed p.N166S 1.000 46 0% 22 45.5% 0 - benign(0.212) tolerated(0.25) neutral(0.057) HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,superfamily_Periplasmic binding protein-like I GRM5 2915 genome.wustl.edu 37 11 88780715 88780715 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143831.2 -1 reviewed p.S109N 1.000 65 0% 50 42% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I TYR 7299 genome.wustl.edu 37 11 88911554 88911554 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000372.4 +1 reviewed p.I145V 0.259 83 0% 42 16.7% 0 - benign(0) tolerated(0.57) neutral(0.006) superfamily_Di-copper centre-containing domain NOX4 50507 genome.wustl.edu 37 11 89075329 89075329 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016931.3 -1 reviewed p.F417S 1.000 84 0% 25 40% 0 - benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_FAD_binding_8,superfamily_Riboflavin synthase domain-like,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain ENSG00000234376 0 genome.wustl.edu 37 11 89486524 89486524 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000411859 -1 known p.S204Y 0.676 412 0% 138 26.8% 0 - - - - NULL ENSG00000204456 0 genome.wustl.edu 37 11 89500057 89500057 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000375974 -1 known p.D103 0.001 247 0% 122 23.8% 0 - - - - HMMPfam_SPRY TRIM77P 390231 genome.wustl.edu 37 11 89515172 89515172 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398290 +1 known p.S328N 0.041 129 0% 82 25.6% 0 - - - - NULL TRIM77P 390231 genome.wustl.edu 37 11 89515524 89515524 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398290 +1 known p.F445L 0.005 308 0% 181 24.9% 0 - - - - HMMPfam_SPRY TRIM49 57093 genome.wustl.edu 37 11 89531586 89531586 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020358.2 -1 reviewed p.V357 0.005 239 0% 121 28.9% 0 - - - - HMMPfam_SPRY NAALAD2 10003 genome.wustl.edu 37 11 89914816 89914816 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005467.3 +1 reviewed p.F629L 1.000 186 0% 73 35.6% 0 - possibly_damaging(0.544) deleterious(0) deleterious(0.629) HMMPfam_TFR_dimer,superfamily_Transferrin receptor ectodomain C-terminal domain FAT3 120114 genome.wustl.edu 37 11 92086330 92086330 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008781.2 +1 validated p.G351V 1.000 127 0% 40 45% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92087078 92087078 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008781.2 +1 validated p.V600 0.996 128 0% 48 39.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92088267 92088267 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008781.2 +1 validated p.E997* 1.000 104 0% 58 50% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92531122 92531122 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008781.2 +1 validated p.S1648F 0.966 57 0% 37 43.2% 0 - benign(0.048) tolerated(0.19) neutral(0.053) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92534203 92534203 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008781.2 +1 validated p.S2675L 0.999 81 1.2% 42 35.7% 0 - possibly_damaging(0.912) tolerated(0.06) deleterious(0.686) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92534700 92534700 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008781.2 +1 validated p.M2841V 0.021 58 0% 36 27.8% 0 - benign(0) tolerated(0.34) neutral(0.023) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92543010 92543010 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008781.2 +1 validated p.G3083 0.691 118 0% 43 32.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92573920 92573920 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008781.2 +1 validated p.V3521I 0.996 76 0% 40 45% 0 - benign(0.001) tolerated(1) - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92577632 92577632 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008781.2 +1 validated p.D3700G 1.000 15 0% 16 25% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Concanavalin A-like lectins/glucanases SLC36A4 120103 genome.wustl.edu 37 11 92895934 92895934 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152313.2 -1 provisional p.G325 0.995 265 0% 68 44.1% 25 40% - - - HMMPfam_Aa_trans SLC36A4 120103 genome.wustl.edu 37 11 92918856 92918856 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152313.2 -1 provisional e2+1 1.000 137 0% 80 30% 0 - - - - - KIAA1731 85459 genome.wustl.edu 37 11 93431304 93431304 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033395.1 +1 validated p.E1076K 0.003 72 0% 44 13.6% 6 33.3% possibly_damaging(0.875) tolerated(0.08) deleterious(0.640) NULL KIAA1731 85459 genome.wustl.edu 37 11 93460384 93460384 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033395.1 +1 validated p.F2248V 0.247 171 0% 66 42.4% 6 83.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL KIAA1731 85459 genome.wustl.edu 37 11 93463403 93463403 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033395.1 +1 validated p.L2592 0.994 382 0% 137 32.8% 23 34.7% - - - NULL HEPHL1 341208 genome.wustl.edu 37 11 93797647 93797647 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098672.1 +1 validated p.A260D 1.000 270 0% 84 45.2% 0 - benign(0.406) tolerated(0.37) neutral(0.149) superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2 HEPHL1 341208 genome.wustl.edu 37 11 93803555 93803555 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098672.1 +1 validated p.Q360R 0.109 91 0% 21 42.9% 1 0% possibly_damaging(0.811) tolerated(0.22) neutral(0.347) PatternScan_MULTICOPPER_OXIDASE1,superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2 PIWIL4 143689 genome.wustl.edu 37 11 94353164 94353164 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152431.2 +1 validated p.Y766H 1.000 68 0% 42 35.7% 9 44.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Piwi,superfamily_Ribonuclease H-like AMOTL1 154810 genome.wustl.edu 37 11 94563241 94563241 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130847.2 +1 reviewed p.S480L 1.000 109 0% 66 30.3% 7 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENDOD1 23052 genome.wustl.edu 37 11 94861921 94861921 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015036.2 +1 validated p.V227 0.002 81 0% 73 11% 21 9.5% - - - HMMPfam_Endonuclease_NS,HMMSmart_NUC,superfamily_SSF54060 SESN3 143686 genome.wustl.edu 37 11 94910992 94910992 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144665.2 -1 provisional p.R380W 1.000 146 0.7% 46 43.5% 21 38% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PA26 FAM76B 143684 genome.wustl.edu 37 11 95516367 95516367 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144664.4 -1 validated p.T142M 1.000 431 0.5% 204 12.3% 7 14.2% - - - NULL MAML2 84441 genome.wustl.edu 37 11 95825392 95825392 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032427.1 -1 validated p.Q601H 0.931 86 0% 109 16.5% 8 50% unknown(0) deleterious(0) - NULL MAML2 84441 genome.wustl.edu 37 11 95825401 95825401 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032427.1 -1 validated p.Q598H 0.000 89 0% 122 32% 8 25% unknown(0) tolerated(0.08) - NULL CCDC82 79780 genome.wustl.edu 37 11 96098310 96098310 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024725.3 -1 validated p.R405Q 1.000 131 0% 66 45.5% 5 60% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL CCDC82 79780 genome.wustl.edu 37 11 96117829 96117829 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024725.3 -1 validated p.R28Q 1.000 365 0% 153 49% 8 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL JRKL 8690 genome.wustl.edu 37 11 96124380 96124380 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003772.3 +1 reviewed p.R189 0.000 44 0% 37 48.6% 11 54.5% - - - HMMPfam_DDE CNTN5 53942 genome.wustl.edu 37 11 99827648 99827648 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014361.2 +1 reviewed p.S262A 0.997 138 0% 66 42.4% 0 - possibly_damaging(0.596) tolerated(0.06) deleterious(0.528) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ARHGAP42 143872 genome.wustl.edu 37 11 100847645 100847645 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152432.2 +1 provisional p.C779Y 1.000 128 0% 40 40% 11 45.4% benign(0.139) tolerated(0.07) neutral(0.331) NULL PGR 5241 genome.wustl.edu 37 11 100920777 100920777 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000926.4 -1 reviewed p.E791* 1.000 163 0% 29 41.4% 5 20% - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain PGR 5241 genome.wustl.edu 37 11 100962529 100962529 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000926.4 -1 reviewed p.R623H 1.000 168 0% 79 46.8% 1 100% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) YAP1 10413 genome.wustl.edu 37 11 101984924 101984924 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130145.1 +1 reviewed p.R124Q 1.000 36 0% 32 50% 60 43.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL BIRC3 330 genome.wustl.edu 37 11 102195745 102195745 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001165.3 +1 reviewed p.E169K 0.984 104 0% 52 53.8% 4 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_BIR,PatternScan_BIR_REPEAT_1,superfamily_SSF57924 MMP20 9313 genome.wustl.edu 37 11 102448128 102448128 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004771.3 -1 reviewed p.T461A 0.976 518 0% 196 37.8% 0 - benign(0) tolerated(0.21) neutral(0.044) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP27 64066 genome.wustl.edu 37 11 102576388 102576389 + Frame_Shift_Ins INS - - G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022122.2 -1 reviewed p.V20fs 0.001:0.066 - - - - - - - - - NULL MMP10 4319 genome.wustl.edu 37 11 102646042 102646042 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002425.2 -1 reviewed p.R315* 1.000 235 0% 73 56.2% 2 0% - - - superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP1 4312 genome.wustl.edu 37 11 102662129 102662129 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002421.3 -1 reviewed p.I377 0.070 253 0.4% 100 48% 4 0% - - - superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX MMP1 4312 genome.wustl.edu 37 11 102667759 102667759 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002421.3 -1 reviewed p.S162Y 0.670 102 0% 34 29.4% 7 14.2% possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_SSF55486 DYNC2H1 79659 genome.wustl.edu 37 11 102991496 102991496 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080463.1 +1 reviewed p.N405H 0.997 204 0% 59 54.2% 0 - benign(0.133) tolerated(0.07) neutral(0.330) HMMPfam_DHC_N1 DYNC2H1 79659 genome.wustl.edu 37 11 103031686 103031686 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080463.1 +1 reviewed p.E1468 0.980 230 0% 65 41.5% 1 0% - - - HMMPfam_DHC_N2 DYNC2H1 79659 genome.wustl.edu 37 11 103182692 103182692 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080463.1 +1 reviewed p.R3867Q 0.999 169 0% 51 43.1% 1 0% possibly_damaging(0.827) deleterious(0) deleterious(0.758) HMMPfam_Dynein_heavy PDGFD 80310 genome.wustl.edu 37 11 103814233 103814233 + Missense_Mutation SNP T T C rs12797918 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025208.4 -1 reviewed p.Y240C 0.996 161 0% 39 51.3% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CASP4 837 genome.wustl.edu 37 11 104825612 104825612 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001225.3 -1 reviewed p.K42Q 0.001 499 0% 124 37.9% 15 33.3% benign(0.253) tolerated(0.14) neutral(0.276) HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain CASP1 834 genome.wustl.edu 37 11 104904956 104904956 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033292.2 -1 reviewed p.G85W 0.012 253 0% 102 36.3% 7 14.2% possibly_damaging(0.755) deleterious(0.02) deleterious(0.661) HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain GRIA4 2893 genome.wustl.edu 37 11 105623764 105623764 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000829.3 +1 reviewed p.S102L 1.000 224 0% 67 41.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_SSF53822 KBTBD3 143879 genome.wustl.edu 37 11 105924646 105924646 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152433.3 -1 validated p.N257T 0.996 148 0% 60 25% 1 100% benign(0.006) tolerated(1) - NULL GUCY1A2 2977 genome.wustl.edu 37 11 106558441 106558441 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000855.1 -1 validated p.S678F 1.000 145 0% 59 11.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain CUL5 8065 genome.wustl.edu 37 11 107965643 107965643 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003478.3 +1 validated p.V558I 1.000 161 0% 67 50.7% 3 33.3% probably_damaging(0.965) tolerated(0.55) neutral(0.414) HMMPfam_Cullin,HMMSmart_SM00182,superfamily_Cullin homology domain ATM 472 genome.wustl.edu 37 11 108119762 108119762 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000051.3 +1 reviewed p.E390* 1.000 320 0% 127 42.5% 1 0% - - - superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108123632 108123632 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000051.3 +1 reviewed p.P631S 0.701 449 0% 203 43.3% 1 0% benign(0.002) tolerated(0.17) neutral(0.059) superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108170568 108170568 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000051.3 +1 reviewed p.T1711 1.000 403 0% 127 36.2% 2 100% - - - superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108186742 108186742 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000051.3 +1 reviewed p.R2034* 0.834 192 0% 82 37.8% 7 42.8% - - - superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108202657 108202657 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000051.3 +1 reviewed p.L2561M 0.439 363 0.6% 143 41.3% 4 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_ARM repeat C11orf65 160140 genome.wustl.edu 37 11 108263997 108263997 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152587.3 -1 validated p.D223E 0.561 537 0% 269 49.4% 0 - benign(0.002) tolerated(0.25) neutral(0.037) NULL EXPH5 23086 genome.wustl.edu 37 11 108383772 108383772 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015065.2 -1 validated p.S821Y 0.000 203 0% 142 52.8% 2 0% possibly_damaging(0.924) deleterious(0) deleterious(0.818) NULL DDX10 1662 genome.wustl.edu 37 11 108586632 108586632 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004398.2 +1 reviewed p.V450A 0.999 265 0% 89 30.3% 3 0% benign(0.41) tolerated(0.27) neutral(0.166) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX10 1662 genome.wustl.edu 37 11 108593986 108593986 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004398.2 +1 reviewed p.D588N 0.001 311 0% 112 33.9% 2 0% benign(0.005) tolerated(0.19) neutral(0.050) NULL DDX10 1662 genome.wustl.edu 37 11 108594076 108594076 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004398.2 +1 reviewed p.E618* 0.000 227 0% 72 41.7% 17 17.6% - - - NULL C11orf87 399947 genome.wustl.edu 37 11 109294443 109294443 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207645.3 +1 validated p.S28 0.979 22 0% 37 32.4% 0 - - - - NULL RDX 5962 genome.wustl.edu 37 11 110126048 110126048 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002906.3 -1 reviewed p.K254T 1.000 287 0% 82 39% 17 58.8% possibly_damaging(0.752) deleterious(0) deleterious(0.721) HMMPfam_FERM_C,superfamily_PH domain-like ARHGAP20 57569 genome.wustl.edu 37 11 110450654 110450654 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020809.2 -1 validated p.S1006T 0.001 68 0% 34 14.7% 0 - benign(0) tolerated(0.92) - NULL ARHGAP20 57569 genome.wustl.edu 37 11 110451630 110451630 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020809.2 -1 validated p.M680I 0.000 88 0% 49 38.8% 0 - benign(0.012) tolerated(0.32) neutral(0.025) NULL BTG4 54766 genome.wustl.edu 37 11 111368829 111368829 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017589.2 -1 reviewed p.D69Y 1.000 616 0% 227 41.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BTG,HMMSmart_btg1 C11orf88 399949 genome.wustl.edu 37 11 111385538 111385538 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207430.2 +1 validated p.S10N 0.000 16 0% 13 38.5% 0 - possibly_damaging(0.912) tolerated(0.21) neutral(0.407) NULL SIK2 23235 genome.wustl.edu 37 11 111571627 111571627 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015191.1 +1 validated p.F166V 1.000 188 0% 74 43.2% 13 46.1% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SIK2 23235 genome.wustl.edu 37 11 111594233 111594233 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015191.1 +1 validated p.R721* 1.000 25 0% 21 42.9% 15 60% - - - superfamily_Protein kinase-like (PK-like) ALG9 79796 genome.wustl.edu 37 11 111739391 111739391 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024740.2 -1 reviewed p.S113 0.915 103 0% 54 42.6% 12 41.6% - - - HMMPfam_Glyco_transf_22 FDXACB1 91893 genome.wustl.edu 37 11 111745932 111745932 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138378.1 -1 validated p.S530Y 0.998 137 0% 81 38.3% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FDX-ACB,superfamily_Anticodon-binding domain of PheRS DIXDC1 85458 genome.wustl.edu 37 11 111857640 111857640 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000440460 +1 known p.D351N 1.000 298 0% 169 45.6% 2 50% benign(0.313) tolerated(0.13) neutral(0.350) NULL PIH1D2 120379 genome.wustl.edu 37 11 111941876 111941876 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138789.3 -1 validated p.S145A 0.999 422 0% 202 9.9% 2 0% benign(0.208) tolerated(0.28) neutral(0.052) HMMPfam_PIH1 C11orf57 55216 genome.wustl.edu 37 11 111953435 111953435 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001082969.1 +1 validated p.K207N 1.000 192 0% 100 38% 14 57.1% possibly_damaging(0.564) deleterious(0) deleterious(0.637) NULL BCO2 83875 genome.wustl.edu 37 11 112050080 112050080 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031938.4 +1 validated p.P56 0.018 83 0% 53 45.3% 0 - - - - HMMPfam_RPE65 BCO2 83875 genome.wustl.edu 37 11 112085668 112085668 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031938.4 +1 validated e10+1 1.000 287 0.3% 169 40.8% 0 - - - - - LOC100288346 100288346 genome.wustl.edu 37 11 113144469 113144469 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343129.1 -1 model p.S19L 1.000 8 0.000 6 0.833 0 - - - - NULL TTC12 54970 genome.wustl.edu 37 11 113235729 113235729 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017868.3 +1 validated p.A663 0.000 21 0% 17 29.4% 8 50% - - - superfamily_ARM-type_fold ANKK1 255239 genome.wustl.edu 37 11 113264204 113264204 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178510.1 +1 reviewed p.S63P 0.892 80 0% 73 43.8% 0 - possibly_damaging(0.873) tolerated(0.12) deleterious(0.600) superfamily_Kinase_like,HMMPfam_Pkinase ANKK1 255239 genome.wustl.edu 37 11 113264424 113264424 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178510.1 +1 reviewed p.S136I 1.000 45 0% 46 47.8% 0 - possibly_damaging(0.934) tolerated(0.07) deleterious(0.699) superfamily_Kinase_like,HMMPfam_Pkinase DRD2 1813 genome.wustl.edu 37 11 113295273 113295273 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000795.3 -1 reviewed p.Y34C 1.000 38 0% 45 13.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Family A G protein-coupled receptor-like TMPRSS5 80975 genome.wustl.edu 37 11 113560612 113560612 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030770.2 -1 reviewed p.P412S 0.834 11 0% 16 56.2% 0 - possibly_damaging(0.821) tolerated(0.3) neutral(0.339) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases NNMT 4837 genome.wustl.edu 37 11 114168761 114168761 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006169.2 +1 reviewed p.I81 0.004 111 0% 47 57.4% 20 0% - - - HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases NNMT 4837 genome.wustl.edu 37 11 114183101 114183101 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006169.2 +1 reviewed p.E233K 0.000 53 0% 37 32.4% 33 6% benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases FAM55A 120400 genome.wustl.edu 37 11 114392969 114392969 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152315.2 -1 validated p.I313 0.000 270 0.4% 105 46.7% 0 - - - - NULL FAM55D 54827 genome.wustl.edu 37 11 114442171 114442171 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077639.1 -1 validated p.E375A 0.108 151 0% 60 55% 0 - benign(0.036) tolerated(1) neutral(0.002) NULL FAM55B 120406 genome.wustl.edu 37 11 114577492 114577492 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182495.5 +1 validated p.G507V 0.571 149 0% 53 32.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL BUD13 84811 genome.wustl.edu 37 11 116633427 116633427 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032725.3 -1 validated p.R293I 0.997 187 0% 73 12.3% 10 10% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ZNF259 8882 genome.wustl.edu 37 11 116654257 116654257 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003904.3 -1 provisional p.D324Y 1.000 187 0% 117 38.5% 29 48.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-ZPR1,HMMSmart_Zpr1 SIK3 23387 genome.wustl.edu 37 11 116717160 116717160 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025164.3 -1 validated p.S1248 1.000 102 0% 62 16.1% 15 13.3% - - - NULL SIK3 23387 genome.wustl.edu 37 11 116746647 116746647 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025164.3 -1 validated p.L334M 1.000 87 0% 55 45.5% 4 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Protein kinase-like (PK-like) SIDT2 51092 genome.wustl.edu 37 11 117064670 117064670 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040455.1 +1 validated p.S771R 1.000 48 0% 37 48.6% 26 57.6% possibly_damaging(0.623) deleterious(0.03) deleterious(0.582) NULL TAGLN 6876 genome.wustl.edu 37 11 117074045 117074045 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001522.1 +1 reviewed p.S68I 1.000 35 0% 44 15.9% 141 24.1% probably_damaging(0.997) tolerated(0.08) deleterious(0.766) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain CEP164 22897 genome.wustl.edu 37 11 117265758 117265758 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000375253 +1 known p.*842 0.000 46 0% 31 29% 0 - - - - NULL CEP164 22897 genome.wustl.edu 37 11 117267283 117267283 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014956.4 +1 validated p.V1078 0.000 146 0% 111 39.6% 23 47.8% - - - NULL DSCAML1 57453 genome.wustl.edu 37 11 117301450 117301450 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020693.2 -1 provisional p.R1952W 1.000 26 0% 22 40.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DSCAML1 57453 genome.wustl.edu 37 11 117303951 117303951 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020693.2 -1 provisional p.D1703 1.000 169 0% 144 44.4% 1 0% - - - NULL SCN4B 6330 genome.wustl.edu 37 11 118007718 118007718 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_024527.1 -1 reviewed NULL 0.010 58 0% 32 21.9% 1 100% - - - - SCN4B 6330 genome.wustl.edu 37 11 118007778 118007778 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174934.3 -1 reviewed p.G217 1.000 74 0% 47 51.1% 0 - - - - NULL UBE4A 9354 genome.wustl.edu 37 11 118267111 118267111 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004788.2 +1 reviewed p.R1060W 1.000 141 0% 70 38.6% 21 47.6% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_U-box,HMMSmart_SM00504 MLL 4297 genome.wustl.edu 37 11 118363798 118363798 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005933.2 +1 validated p.P1674 0.020 105 0% 67 41.8% 8 25% - - - HMMSmart_SM00297 MLL 4297 genome.wustl.edu 37 11 118374970 118374970 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005933.2 +1 validated p.S2785Y 0.996 97 0% 56 42.9% 15 66.6% possibly_damaging(0.447) - - NULL MLL 4297 genome.wustl.edu 37 11 118392101 118392101 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005933.2 +1 validated p.T3868N 1.000 120 0% 84 44% 22 59% probably_damaging(0.991) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain PHLDB1 23187 genome.wustl.edu 37 11 118521197 118521197 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144758.1 +1 validated p.W1273C 1.000 79 0% 95 40% 20 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like DDX6 1656 genome.wustl.edu 37 11 118625546 118625546 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004397.4 -1 reviewed p.R443C 1.000 183 0% 92 40.2% 48 52% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_SSF52540 CCDC84 338657 genome.wustl.edu 37 11 118882958 118882958 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198489.1 +1 provisional p.G226 0.870 45 0% 37 62.2% 18 50% - - - NULL VPS11 55823 genome.wustl.edu 37 11 118941055 118941055 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000300793 +1 known p.R194H 1.000 95 0% 79 20.3% 13 0% - - - superfamily_WD40 repeat-like HMBS 3145 genome.wustl.edu 37 11 118959939 118959939 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000190.3 +1 reviewed p.S75R 1.000 252 0% 197 43.7% 25 28% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Porphobil_deam,superfamily_Periplasmic binding protein-like II HMBS 3145 genome.wustl.edu 37 11 118963186 118963186 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000190.3 +1 reviewed p.E242K 1.000 27 0% 23 43.5% 88 32.9% possibly_damaging(0.455) tolerated(0.07) neutral(0.468) superfamily_Porphobilinogen deaminase (hydroxymethylbilane synthase) C-terminal domain C2CD2L 9854 genome.wustl.edu 37 11 118983440 118983440 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014807.3 +1 validated p.L415M 1.000 32 0% 23 52.2% 32 37.5% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL NLRX1 79671 genome.wustl.edu 37 11 119045246 119045246 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024618.2 +1 reviewed p.F312L 1.000 43 0% 35 37.1% 12 58.3% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_NACHT MCAM 4162 genome.wustl.edu 37 11 119181830 119181830 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006500.2 -1 validated p.P539S 0.963 131 0% 107 40.2% 29 6.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MFRP 83552 genome.wustl.edu 37 11 119213352 119213352 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000360167 -1 known p.P372L 0.002 18 0% 22 31.8% 0 - unknown(0) tolerated(0.1) - NULL USP2 9099 genome.wustl.edu 37 11 119243959 119243959 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004205.4 -1 validated p.R78C 1.000 22 0% 30 56.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PVRL1 5818 genome.wustl.edu 37 11 119548408 119548408 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002855.4 -1 reviewed p.E197G 1.000 87 0% 69 43.5% 29 55.1% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin TRIM29 23650 genome.wustl.edu 37 11 119998096 119998096 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012101.3 -1 reviewed p.K361R 1.000 72 0% 41 56.1% 31 61.2% unknown(0) tolerated(0.09) - NULL POU2F3 25833 genome.wustl.edu 37 11 120187972 120187972 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014352.2 +1 validated p.R390 1.000 232 0% 134 41.8% 1 0% - - - NULL ARHGEF12 23365 genome.wustl.edu 37 11 120317116 120317116 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015313.1 +1 reviewed p.K450N 0.994 154 0% 54 44.4% 20 45% probably_damaging(0.997) tolerated(0.13) deleterious(0.719) HMMPfam_RGS-like,superfamily_Regulator of G-protein signaling RGS ARHGEF12 23365 genome.wustl.edu 37 11 120327884 120327884 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015313.1 +1 reviewed p.R705H 0.997 145 0% 74 39.2% 28 46.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GRIK4 2900 genome.wustl.edu 37 11 120833254 120833254 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014619.2 +1 reviewed p.I710 0.992 91 0% 45 53.3% 0 - - - - HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 TECTA 7007 genome.wustl.edu 37 11 120980143 120980143 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005422.2 +1 reviewed p.A141V 1.000 136 0% 75 49.3% 0 - possibly_damaging(0.837) deleterious(0) deleterious(0.764) HMMSmart_SM00539 TECTA 7007 genome.wustl.edu 37 11 121028720 121028720 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005422.2 +1 reviewed p.G1492 0.887 11 0% 17 47.1% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 TECTA 7007 genome.wustl.edu 37 11 121028906 121028906 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005422.2 +1 reviewed p.I1554M 0.957 31 0% 11 63.6% 0 - possibly_damaging(0.873) deleterious(0.02) deleterious(0.722) HMMPfam_VWD,HMMSmart_SM00216 SORL1 6653 genome.wustl.edu 37 11 121340776 121340776 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003105.4 +1 reviewed p.V116M 1.000 45 0% 29 44.8% 10 60% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase SORL1 6653 genome.wustl.edu 37 11 121424753 121424753 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003105.4 +1 reviewed p.A792T 1.000 53 0% 31 32.3% 18 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00135,superfamily_YWTD domain SORL1 6653 genome.wustl.edu 37 11 121425922 121425922 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003105.4 +1 reviewed p.G822 0.998 197 0% 91 38.5% 4 50% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain UBASH3B 84959 genome.wustl.edu 37 11 122678800 122678800 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032873.4 +1 validated p.H576 0.490 140 0% 79 53.2% 1 0% - - - HMMPfam_PGAM,superfamily_SSF53254 UBASH3B 84959 genome.wustl.edu 37 11 122680509 122680509 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032873.4 +1 validated p.W622* 1.000 196 0.5% 82 46.3% 0 - - - - superfamily_SSF53254 CRTAM 56253 genome.wustl.edu 37 11 122722400 122722400 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019604.2 +1 validated e3-1 1.000 185 0% 96 42.7% 0 - - - - - C11orf63 79864 genome.wustl.edu 37 11 122756575 122756575 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024806.2 +1 validated p.L6 0.023 114 0% 69 37.7% 3 66.6% - - - NULL C11orf63 79864 genome.wustl.edu 37 11 122756745 122756745 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024806.2 +1 validated p.R63Q 0.000 108 0% 77 33.8% 4 100% benign(0.033) tolerated(1) neutral(0.002) NULL C11orf63 79864 genome.wustl.edu 37 11 122774795 122774795 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024806.2 +1 validated p.T169 0.000 45 0% 18 33.3% 1 0% - - - NULL HSPA8 3312 genome.wustl.edu 37 11 122929478 122929478 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006597.3 -1 reviewed p.T462A 1.000 92 0% 56 50% 1071 48.4% benign(0.004) deleterious(0.04) neutral(0.349) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain GRAMD1B 57476 genome.wustl.edu 37 11 123448179 123448179 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020716.1 +1 validated p.E43G 1.000 10 0.000 9 0.444 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL GRAMD1B 57476 genome.wustl.edu 37 11 123484331 123484331 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020716.1 +1 validated p.D588G 1.000 34 0% 21 33.3% 1 0% possibly_damaging(0.925) tolerated(0.3) neutral(0.402) NULL ZNF202 7753 genome.wustl.edu 37 11 123597087 123597087 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003455.2 -1 validated p.S522Y 0.999 176 0% 97 48.5% 5 40% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR10S1 219873 genome.wustl.edu 37 11 123847972 123847972 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004474.1 -1 provisional p.P143T 1.000 28 0% 29 41.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10G4 390264 genome.wustl.edu 37 11 123886942 123886942 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004462.1 +1 provisional p.V221I 0.003 205 0% 120 48.3% 0 - benign(0.002) tolerated(0.42) neutral(0.014) HMMPfam_7tm_1,superfamily_SSF81321 OR10G4 390264 genome.wustl.edu 37 11 123887052 123887052 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004462.1 +1 provisional p.I257M 0.257 122 0% 79 48.1% 0 - benign(0.089) tolerated(0.11) neutral(0.278) HMMPfam_7tm_1,superfamily_SSF81321 OR8B8 26493 genome.wustl.edu 37 11 124310410 124310410 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012378.1 -1 provisional p.S191N 0.199 97 0% 77 51.9% 0 - benign(0.016) tolerated(0.21) neutral(0.044) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8B8 26493 genome.wustl.edu 37 11 124310533 124310533 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012378.1 -1 provisional p.G150E 0.524 108 0% 95 36.8% 0 - possibly_damaging(0.639) deleterious(0.02) deleterious(0.607) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MSANTD2 79684 genome.wustl.edu 37 11 124637716 124637716 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024631.2 -1 validated p.R294W 1.000 125 0% 70 44.3% 8 62.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ROBO3 64221 genome.wustl.edu 37 11 124743285 124743285 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022370.3 +1 reviewed p.R539Q 0.075 142 0% 91 31.9% 0 - benign(0.003) tolerated(1) - HMMSmart_SM00409,superfamily_Immunoglobulin ROBO3 64221 genome.wustl.edu 37 11 124743717 124743717 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022370.3 +1 reviewed p.Q581H 0.376 56 0% 38 52.6% 0 - probably_damaging(0.958) tolerated(0.08) deleterious(0.702) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ROBO3 64221 genome.wustl.edu 37 11 124747173 124747173 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022370.3 +1 reviewed p.P938 0.988 150 0% 149 48.3% 3 0% - - - NULL ROBO4 54538 genome.wustl.edu 37 11 124757059 124757059 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019055.5 -1 validated p.P750L 0.873 18 0% 13 53.8% 4 0% unknown(0) deleterious(0.01) - NULL HEPACAM 220296 genome.wustl.edu 37 11 124792564 124792564 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000374961 -1 known p.G318 0.009 149 0% 150 42.7% 0 - - - - NULL HEPACAM 220296 genome.wustl.edu 37 11 124805856 124805856 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152722.4 -1 validated p.R16H 0.001 48 0% 42 42.9% 0 - possibly_damaging(0.812) deleterious(0) deleterious(0.750) NULL SLC37A2 219855 genome.wustl.edu 37 11 124949582 124949582 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198277.2 +1 validated p.V151 1.000 55 0% 56 10.7% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter PKNOX2 63876 genome.wustl.edu 37 11 125298943 125298943 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022062.2 +1 validated p.I324 0.333 42 0% 41 51.2% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like FEZ1 9638 genome.wustl.edu 37 11 125330511 125330511 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005103.3 -1 reviewed p.E184* 1.000 242 0% 131 47.3% 0 - - - - HMMPfam_FEZ FEZ1 9638 genome.wustl.edu 37 11 125359428 125359428 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005103.3 -1 reviewed p.E82D 1.000 162 0% 76 51.3% 3 0% possibly_damaging(0.882) tolerated(0.3) neutral(0.373) HMMPfam_FEZ STT3A 3703 genome.wustl.edu 37 11 125478126 125478126 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152713.3 +1 validated p.S301 0.979 116 0% 90 44.4% 124 41.9% - - - HMMPfam_STT3 STT3A 3703 genome.wustl.edu 37 11 125479469 125479469 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152713.3 +1 validated p.V368I 1.000 196 0.5% 144 46.5% 157 42% benign(0.064) tolerated(0.85) neutral(0.005) HMMPfam_STT3 STT3A 3703 genome.wustl.edu 37 11 125482602 125482602 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152713.3 +1 validated p.S442I 0.987 158 0% 78 47.4% 162 40.7% benign(0.223) tolerated(0.12) neutral(0.283) HMMPfam_STT3 STT3A 3703 genome.wustl.edu 37 11 125488282 125488282 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152713.3 +1 validated p.L597I 1.000 116 0% 62 38.7% 263 44.8% benign(0.123) deleterious(0.01) neutral(0.416) HMMPfam_STT3 ACRV1 56 genome.wustl.edu 37 11 125542517 125542517 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001612.4 -1 reviewed p.R257* 0.690 183 0% 89 46.1% 0 - - - - NULL PUS3 83480 genome.wustl.edu 37 11 125763984 125763984 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031307.3 -1 validated p.K381T 0.068 186 0% 104 54.8% 12 75% benign(0.007) deleterious(0.02) neutral(0.383) NULL DDX25 29118 genome.wustl.edu 37 11 125776097 125776097 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013264.3 +1 reviewed p.L102M 1.000 174 0% 96 49% 0 - probably_damaging(0.997) tolerated(0.17) deleterious(0.525) superfamily_P-loop containing nucleoside triphosphate hydrolases CDON 50937 genome.wustl.edu 37 11 125853922 125853922 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016952.4 -1 validated p.G947V 0.287 67 0% 50 44% 1 0% benign(0.268) deleterious(0.03) neutral(0.393) NULL CDON 50937 genome.wustl.edu 37 11 125867196 125867196 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016952.4 -1 validated p.V756 0.021 75 0% 42 42.9% 2 50% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CDON 50937 genome.wustl.edu 37 11 125888308 125888308 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016952.4 -1 validated p.K186M 0.980 334 0% 108 51.9% 3 66.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FOXRED1 55572 genome.wustl.edu 37 11 126143287 126143287 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017547.2 +1 provisional p.G158 0.759 32 0% 28 50% 22 31.8% - - - HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain TIRAP 114609 genome.wustl.edu 37 11 126160801 126160801 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148910.2 +1 reviewed p.S4 0.062 31 0% 37 45.9% 11 54.5% - - - NULL ST3GAL4 6484 genome.wustl.edu 37 11 126277179 126277179 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006278.1 +1 provisional p.L68R 1.000 52 0% 41 51.2% 20 40% benign(0.048) deleterious(0.05) neutral(0.348) HMMPfam_Glyco_transf_29 KIRREL3 84623 genome.wustl.edu 37 11 126295572 126295572 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032531.3 -1 reviewed p.E618D 1.000 101 0% 56 50% 0 - benign(0.046) tolerated(0.84) neutral(0.003) NULL ETS1 2113 genome.wustl.edu 37 11 128354788 128354788 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143820.1 -1 validated p.Q264H 1.000 135 0% 62 32.3% 22 31.8% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL KCNJ5 3762 genome.wustl.edu 37 11 128781576 128781576 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000890.3 +1 reviewed p.F136 0.975 92 0% 55 34.5% 2 0% - - - HMMPfam_IRK,superfamily_SSF81324 ARHGAP32 9743 genome.wustl.edu 37 11 128840859 128840859 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142685.1 -1 validated p.P1403S 1.000 29 0% 22 27.3% 21 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP32 9743 genome.wustl.edu 37 11 128844629 128844629 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142685.1 -1 validated p.A807 0.091 116 0% 72 12.5% 11 36.3% - - - NULL PRDM10 56980 genome.wustl.edu 37 11 129784674 129784674 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020228.2 -1 reviewed p.Y926 0.961 91 0% 86 46.5% 6 83.3% - - - NULL APLP2 334 genome.wustl.edu 37 11 129999052 129999052 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001642.2 +1 validated p.R469Q 1.000 28 0% 28 42.9% 313 48.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein ST14 6768 genome.wustl.edu 37 11 130078492 130078492 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021978.3 +1 reviewed p.R728W 1.000 11 0% 17 41.2% 280 47.8% benign(0.185) tolerated(0.17) neutral(0.076) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ZBTB44 29068 genome.wustl.edu 37 11 130131416 130131416 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014155.4 -1 validated p.S118I 1.000 115 0% 45 46.7% 24 58.3% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB ADAMTS8 11095 genome.wustl.edu 37 11 130278754 130278754 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007037.4 -1 reviewed p.V611A 1.000 43 0% 41 43.9% 16 68.7% possibly_damaging(0.522) deleterious(0) deleterious(0.621) NULL SNX19 399979 genome.wustl.edu 37 11 130784839 130784839 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014758.2 -1 validated p.G332 0.982 162 0% 107 39.3% 7 14.2% - - - NULL SNX19 399979 genome.wustl.edu 37 11 130785132 130785132 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014758.2 -1 validated p.R235C 0.766 22 0% 28 28.6% 11 63.6% possibly_damaging(0.501) tolerated(0.14) neutral(0.417) HMMPfam_PXA,HMMSmart_SM00313 SPATA19 219938 genome.wustl.edu 37 11 133711952 133711952 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174927.1 -1 provisional p.P162 0.000 67 0% 53 41.5% 0 - - - - NULL NCAPD3 23310 genome.wustl.edu 37 11 134055263 134055263 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015261.2 -1 validated p.S735N 1.000 241 0% 112 36.6% 15 26.6% benign(0.103) tolerated(0.55) neutral(0.015) superfamily_ARM-type_fold NCAPD3 23310 genome.wustl.edu 37 11 134080271 134080271 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015261.2 -1 validated p.E154K 0.993 315 0% 176 51.1% 6 33.3% possibly_damaging(0.926) tolerated(0.23) neutral(0.416) NULL THYN1 29087 genome.wustl.edu 37 11 134119736 134119736 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037305.1 -1 reviewed p.A124T 0.809 139 0% 75 14.7% 99 16.1% possibly_damaging(0.631) tolerated(0.06) deleterious(0.543) HMMPfam_DUF55 THYN1 29087 genome.wustl.edu 37 11 134121049 134121049 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037305.1 -1 reviewed p.R66H 0.997 148 1.4% 113 46% 101 45.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF55 ACAD8 27034 genome.wustl.edu 37 11 134131249 134131249 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014384.2 +1 reviewed p.P308S 1.000 39 0% 44 36.4% 21 38% unknown(0) - - HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like GLB1L2 89944 genome.wustl.edu 37 11 134244612 134244612 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138342.3 +1 validated p.Q608H 1.000 44 0% 35 54.3% 9 0% benign(0.394) deleterious(0.01) deleterious(0.532) NULL IQSEC3 440073 genome.wustl.edu 37 12 272777 272777 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015232.1 +1 validated p.L598M 1.000 30 0% 24 37.5% 0 - unknown(0) tolerated(0.07) - HMMSmart_PH,superfamily_SSF50729 IQSEC3 440073 genome.wustl.edu 37 12 274962 274962 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015232.1 +1 validated p.F656 1.000 37 0% 29 48.3% 2 0% - - - HMMSmart_PH,superfamily_SSF50729 SLC6A12 6539 genome.wustl.edu 37 12 309870 309870 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122847.1 -1 validated p.A220T 0.999 29 0% 21 57.1% 0 - possibly_damaging(0.728) tolerated(0.09) deleterious(0.561) HMMPfam_SNF SLC6A12 6539 genome.wustl.edu 37 12 311014 311014 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122847.1 -1 validated p.E164D 0.023 104 0% 90 36.7% 0 - benign(0.009) tolerated(0.6) neutral(0.005) HMMPfam_SNF SLC6A13 6540 genome.wustl.edu 37 12 369115 369115 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016615.2 -1 provisional p.W35* 1.000 117 0% 46 52.2% 0 - - - - HMMPfam_SNF KDM5A 5927 genome.wustl.edu 37 12 430248 430248 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042603.1 -1 reviewed p.R818 1.000 167 0% 97 44.3% 16 50% - - - HMMPfam_PLU-1 NINJ2 4815 genome.wustl.edu 37 12 772662 772662 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016533.4 -1 validated p.M1I 1.000 20 0% 21 33.3% 1 0% unknown(0) - - NULL WNK1 65125 genome.wustl.edu 37 12 970506 970506 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018979.3 +1 reviewed p.L650 0.995 100 0% 44 43.2% 25 44% - - - superfamily_Kinase_like WNK1 65125 genome.wustl.edu 37 12 1009727 1009727 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018979.3 +1 reviewed p.Q2178 0.999 69 0% 37 37.8% 58 37.9% - - - NULL CACNA1C 775 genome.wustl.edu 37 12 2774033 2774033 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199460.2 +1 reviewed p.C1473 1.000 27 0% 18 66.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels LOC100288472 100288472 genome.wustl.edu 37 12 2896149 2896149 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343142.1 -1 model p.A125D 0.999 82 0% 25 36% 0 - - - - HMMPfam_Chromo_shadow,superfamily_Chromo domain-like,HMMSmart_SM00300 NRIP2 83714 genome.wustl.edu 37 12 2939982 2939982 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031474.2 -1 validated p.P129 0.075 52 0% 49 42.9% 1 0% - - - NULL TULP3 7289 genome.wustl.edu 37 12 3046831 3046831 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003324.4 +1 reviewed p.K320R 1.000 150 0% 84 29.8% 11 27.2% benign(0.115) tolerated(0.43) neutral(0.022) HMMPfam_Tub,superfamily_Transcriptional factor tubby C-terminal domain TEAD4 7004 genome.wustl.edu 37 12 3104002 3104002 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003213.2 +1 reviewed p.A24T 1.000 13 0.000 9 0.444 10 40% benign(0) tolerated(0.56) neutral(0.006) HMMPfam_TEA TEAD4 7004 genome.wustl.edu 37 12 3131038 3131038 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003213.2 +1 reviewed p.G251D 1.000 39 0% 48 47.9% 27 66.6% benign(0.196) deleterious(0.03) neutral(0.383) HMMPfam_TEA TSPAN9 10867 genome.wustl.edu 37 12 3389564 3389564 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006675.4 +1 reviewed p.K116T 1.000 15 0% 23 34.8% 30 43.3% benign(0.268) tolerated(0.13) neutral(0.281) superfamily_Tetraspanin,HMMPfam_Tetraspannin EFCAB4B 84766 genome.wustl.edu 37 12 3763420 3763420 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144958.1 -1 validated p.S335I 0.769 32 0% 30 40% 1 100% benign(0.002) tolerated(0.22) neutral(0.042) NULL ENSG00000118976 0 genome.wustl.edu 37 12 3949768 3949768 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000237841 +1 known p.R434Q 0.165 304 0% 177 42.4% 0 - - - - NULL C12orf5 57103 genome.wustl.edu 37 12 4459055 4459055 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020375.2 +1 reviewed p.R88Q 1.000 276 0% 110 39.1% 8 25% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_PGAM,superfamily_SSF53254 FGF23 8074 genome.wustl.edu 37 12 4488621 4488621 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020638.2 -1 reviewed p.Y43C 1.000 24 0% 12 66.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_FGF,superfamily_Cytok_IL1_like RAD51AP1 10635 genome.wustl.edu 37 12 4652994 4652994 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130862.1 +1 validated p.Q45* 0.816 254 0% 90 36.7% 6 33.3% - - - NULL AKAP3 10566 genome.wustl.edu 37 12 4735665 4735665 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006422.2 -1 reviewed p.E801 1.000 269 0% 106 47.2% 0 - - - - HMMPfam_AKAP_110,HMMSmart_SM00807 AKAP3 10566 genome.wustl.edu 37 12 4736928 4736928 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006422.2 -1 reviewed p.K380 0.029 166 0% 73 46.6% 0 - - - - HMMPfam_AKAP_110,HMMSmart_SM00807 GALNT8 26290 genome.wustl.edu 37 12 4835715 4835715 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017417.1 +1 reviewed p.A77T 0.032 54 0% 24 41.7% 0 - benign(0.004) deleterious(0.03) neutral(0.364) NULL KCNA1 3736 genome.wustl.edu 37 12 5021063 5021063 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000217.2 +1 reviewed p.S173 0.000 19 0% 21 57.1% 0 - - - - superfamily_SSF81324 KCNA1 3736 genome.wustl.edu 37 12 5021624 5021624 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000217.2 +1 reviewed p.P360 0.998 46 0% 48 37.5% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 ANO2 57101 genome.wustl.edu 37 12 5687538 5687538 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020373.2 -1 validated p.D794Y 1.000 60 0% 33 48.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF590 VWF 7450 genome.wustl.edu 37 12 6219705 6219705 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000552.3 -1 reviewed p.E123K 0.996 67 0% 46 45.7% 17 0% benign(0.017) deleterious(0.01) neutral(0.406) HMMPfam_VWD,HMMSmart_SM00216 CD9 928 genome.wustl.edu 37 12 6345408 6345408 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001769.2 +1 reviewed p.I196 0.640 35 0% 27 33.3% 395 38.2% - - - HMMPfam_Tetraspannin LOC678655 678655 genome.wustl.edu 37 12 6559559 6559559 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_015382.1 -1 predicted NULL 0.008 41 0% 24 45.8% 3 33.3% - - - - TAPBPL 55080 genome.wustl.edu 37 12 6562456 6562456 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018009.4 +1 validated p.E96D 1.000 6 0.000 9 0.667 6 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NCAPD2 9918 genome.wustl.edu 37 12 6630996 6630996 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014865.3 +1 validated p.R583W 0.029 109 0% 73 37% 28 50% benign(0.081) deleterious(0.04) neutral(0.355) superfamily_ARM repeat IFFO1 25900 genome.wustl.edu 37 12 6659895 6659895 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039670.1 -1 validated p.A299D 0.999 31 0% 37 51.4% 2 0% probably_damaging(0.997) tolerated(0.57) deleterious(0.472) NULL CHD4 1108 genome.wustl.edu 37 12 6682375 6682375 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001273.2 -1 reviewed p.S1808P 1.000 95 0% 63 11.1% 117 0.8% benign(0.152) tolerated(0.06) neutral(0.336) HMMPfam_CHDCT2 CHD4 1108 genome.wustl.edu 37 12 6710106 6710106 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001273.2 -1 reviewed p.R305C 1.000 235 0% 141 36.9% 25 32% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CHD4 1108 genome.wustl.edu 37 12 6711239 6711239 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001273.2 -1 reviewed p.D109N 1.000 19 0% 15 46.7% 30 40% possibly_damaging(0.507) deleterious(0) deleterious(0.614) NULL ING4 51147 genome.wustl.edu 37 12 6761831 6761831 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127582.1 -1 reviewed p.R166H 1.000 81 0% 62 48.4% 29 44.8% benign(0.001) tolerated(0.15) neutral(0.241) NULL ZNF384 171017 genome.wustl.edu 37 12 6788170 6788170 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135734.1 -1 reviewed p.A82 0.005 35 0% 24 50% 34 50% - - - NULL GPR162 27239 genome.wustl.edu 37 12 6933506 6933506 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019858.1 +1 reviewed p.L148F 1.000 22 0% 21 71.4% 3 33.3% probably_damaging(0.991) tolerated(0.09) deleterious(0.740) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LEPREL2 10536 genome.wustl.edu 37 12 6939084 6939084 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000290510 +1 known p.H186R 1.000 24 0% 25 32% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC23 10233 genome.wustl.edu 37 12 7021988 7021988 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135217.1 +1 validated p.E285K 0.789 44 0% 25 44% 8 25% possibly_damaging(0.611) tolerated(0.24) neutral(0.249) superfamily_L domain-like ENO2 2026 genome.wustl.edu 37 12 7028895 7028895 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001975.2 +1 reviewed p.A278V 0.927 74 0% 61 49.2% 65 29.2% benign(0.001) deleterious(0) neutral(0.445) HMMPfam_Enolase_C,superfamily_Enolase C-terminal domain-like ATN1 1822 genome.wustl.edu 37 12 7046238 7046238 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007026.1 +1 reviewed p.P603L 0.997 26 0% 38 47.4% 148 42.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Atrophin-1 EMG1 10436 genome.wustl.edu 37 12 7084291 7084291 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000261406 +1 known p.G150D 1.000 447 0% 289 41.2% 30 56.6% - - - HMMPfam_EMG1 LPCAT3 10162 genome.wustl.edu 37 12 7087516 7087516 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005768.5 -1 validated p.A343T 1.000 30 0% 31 38.7% 27 33.3% benign(0.273) tolerated(0.57) neutral(0.035) HMMPfam_MBOAT C1S 716 genome.wustl.edu 37 12 7177895 7177895 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001734.3 +1 reviewed p.K669N 0.884 41 0% 18 33.3% 21 4.7% benign(0.119) tolerated(0.35) neutral(0.030) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys C1R 715 genome.wustl.edu 37 12 7187965 7187965 + Silent SNP C C T rs147540938 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000290575 -1 known p.P677 0.000 38 0% 34 50% 52 25% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases C1R 715 genome.wustl.edu 37 12 7188604 7188604 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000290575 -1 known p.V464 1.000 7 0.000 7 0.571 63 28.5% benign(0) tolerated(0.06) neutral(0.323) superfamily_Complement control module/SCR domain C1R 715 genome.wustl.edu 37 12 7242272 7242272 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000290575 -1 known p.C175Y 1.000 34 0% 36 41.7% 51 27.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin CLSTN3 9746 genome.wustl.edu 37 12 7288893 7288893 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014718.3 +1 validated p.W278* 1.000 33 0% 33 45.5% 23 13% - - - NULL CLSTN3 9746 genome.wustl.edu 37 12 7288971 7288971 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014718.3 +1 validated p.A304 0.005 19 0% 25 48% 27 18.5% - - - superfamily_ConA_like_lec_gl CLSTN3 9746 genome.wustl.edu 37 12 7302191 7302191 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014718.3 +1 validated p.D716G 1.000 26 0% 32 50% 32 62.5% probably_damaging(0.956) tolerated(0.15) deleterious(0.641) NULL CD163L1 283316 genome.wustl.edu 37 12 7548888 7548888 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174941.4 -1 reviewed p.A618D 0.561 58 0% 36 44.4% 0 - benign(0.254) tolerated(0.62) neutral(0.030) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like GDF3 9573 genome.wustl.edu 37 12 7842554 7842554 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020634.1 -1 reviewed p.M339V 1.000 113 0% 55 41.8% 0 - benign(0.347) tolerated(0.32) neutral(0.134) HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 FOXJ2 55810 genome.wustl.edu 37 12 8197429 8197429 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018416.2 +1 validated p.P231H 1.000 237 0% 121 9.9% 9 22.2% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL FOXJ2 55810 genome.wustl.edu 37 12 8201361 8201361 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018416.2 +1 validated p.N432D 1.000 258 0.4% 145 11.7% 11 36.3% possibly_damaging(0.791) tolerated(0.25) neutral(0.333) NULL NECAP1 25977 genome.wustl.edu 37 12 8242583 8242583 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015509.3 +1 validated p.I49 1.000 149 0% 104 45.2% 13 61.5% - - - HMMPfam_DUF1681 CLEC4A 50856 genome.wustl.edu 37 12 8290794 8290794 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016184.3 +1 reviewed p.R209C 0.000 195 0% 110 84.5% 2 100% probably_damaging(0.995) tolerated(0.19) deleterious(0.507) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 ENSG00000246407 0 genome.wustl.edu 37 12 8384860 8384860 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000499592 -1 known NULL 0.047 25 0% 21 23.8% 3 33.3% - - - - ENSG00000246407 0 genome.wustl.edu 37 12 8385091 8385091 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000499592 -1 known NULL 0.000 162 0% 151 28.5% 6 16.6% - - - - AICDA 57379 genome.wustl.edu 37 12 8757814 8757814 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020661.2 -1 reviewed p.K142E 1.000 7 0.000 9 0.444 0 - probably_damaging(0.996) tolerated(0.66) neutral(0.464) HMMPfam_APOBEC_C,superfamily_Cytidine deaminase-like A2ML1 144568 genome.wustl.edu 37 12 8988877 8988877 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144670.3 +1 validated p.V224M 1.000 492 0% 255 45.1% 4 75% probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_A2M_N PZP 5858 genome.wustl.edu 37 12 9311058 9311058 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002864.2 -1 validated p.G1084 1.000 184 0% 139 48.2% 1 0% - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp PZP 5858 genome.wustl.edu 37 12 9348974 9348974 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002864.2 -1 validated p.F348 0.212 273 0% 140 47.1% 0 - - - - NULL DDX11L8 100302090 genome.wustl.edu 37 12 9446422 9446422 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000341155 +1 known p.G103 0.000 271 0% 192 25% 4 25% - - - HMMSmart_SM00488,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX12P 440081 genome.wustl.edu 37 12 9572578 9572578 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000432996 -1 known p.R792W 1.000 58 0% 54 50% 11 9% - - - HMMSmart_SM00491 KLRB1 3820 genome.wustl.edu 37 12 9747911 9747911 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002258.2 -1 reviewed p.E213* 0.629 439 0% 92 40.2% 1 0% - - - NULL CLEC1A 51267 genome.wustl.edu 37 12 10233977 10233977 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016511.2 -1 reviewed p.D84N 0.394 392 0% 171 34.5% 0 - benign(0.085) tolerated(0.24) neutral(0.043) NULL OLR1 4973 genome.wustl.edu 37 12 10319552 10319552 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002543.3 -1 reviewed p.S61 0.962 318 0% 134 37.3% 1 0% - - - NULL C12orf59 120939 genome.wustl.edu 37 12 10337942 10337942 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153022.2 +1 validated p.D18Y 1.000 210 0% 112 36.6% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL KLRC2 3822 genome.wustl.edu 37 12 10588443 10588443 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002260.3 -1 reviewed p.P48H 0.028 854 0% 298 16.1% 0 - benign(0.215) deleterious(0) neutral(0.466) NULL MAGOHB 55110 genome.wustl.edu 37 12 10760465 10760465 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018048.2 -1 provisional p.V112A 1.000 475 0% 138 39.1% 29 37.9% benign(0.09) deleterious(0.05) neutral(0.352) HMMPfam_Mago_nashi,superfamily_Mago_nashi STYK1 55359 genome.wustl.edu 37 12 10772916 10772916 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018423.2 -1 validated p.R366C 1.000 32 3.1% 25 56% 2 50% benign(0.298) deleterious(0.05) neutral(0.438) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TAS2R8 50836 genome.wustl.edu 37 12 10959361 10959361 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023918.1 -1 reviewed p.P73 0.000 293 0% 55 47.3% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R10 50839 genome.wustl.edu 37 12 10978450 10978450 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023921.1 -1 reviewed p.S140L 0.000 110 0% 27 40.7% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like PRR4 11272 genome.wustl.edu 37 12 10999733 10999733 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098538.1 -1 validated p.L125 0.000 133 0% 93 43% 7 14.2% unknown(0) - - NULL TAS2R31 259290 genome.wustl.edu 37 12 11183404 11183404 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176885.2 -1 provisional p.A177 0.000 356 0% 165 45.5% 1 100% - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like PRB1 5542 genome.wustl.edu 37 12 11506838 11506838 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199353.2 -1 reviewed p.K67Q 0.000 90 0% 68 32.4% 0 - unknown(0) tolerated(0.59) - NULL PRB2 653247 genome.wustl.edu 37 12 11546218 11546218 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006248.3 -1 validated p.G265V 0.975 122 0% 84 19% 0 - unknown(0) deleterious(0.02) - NULL LRP6 4040 genome.wustl.edu 37 12 12397410 12397410 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002336.2 -1 reviewed p.E79* 1.000 176 0% 100 12% 5 20% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain MANSC1 54682 genome.wustl.edu 37 12 12483020 12483020 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018050.2 -1 validated p.R413C 0.995 85 0% 48 41.7% 45 51.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CREBL2 1389 genome.wustl.edu 37 12 12788725 12788725 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001310.2 +1 reviewed p.K10N 1.000 87 0% 47 57.4% 9 66.6% possibly_damaging(0.919) deleterious(0.01) deleterious(0.775) NULL GPR19 2842 genome.wustl.edu 37 12 12815306 12815306 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006143.2 -1 validated p.R26H 0.878 99 0% 62 46.8% 0 - benign(0) tolerated(0.39) neutral(0.016) superfamily_Family A G protein-coupled receptor-like GPRC5A 9052 genome.wustl.edu 37 12 13061706 13061706 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003979.3 +1 reviewed p.E175* 0.451 145 0% 111 50.5% 62 12.9% - - - HMMPfam_7tm_3 KIAA1467 57613 genome.wustl.edu 37 12 13214606 13214606 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020853.1 +1 validated p.T210 0.562 110 0% 52 44.2% 6 83.3% - - - NULL GSG1 83445 genome.wustl.edu 37 12 13237901 13237901 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080555.1 -1 validated p.F341L 0.000 116 0% 71 33.8% 0 - benign(0.042) tolerated(0.23) neutral(0.044) NULL GSG1 83445 genome.wustl.edu 37 12 13238061 13238061 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080555.1 -1 validated p.P288L 0.004 35 0% 21 52.4% 0 - benign(0.002) tolerated(1) - NULL EMP1 2012 genome.wustl.edu 37 12 13367615 13367615 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001423.2 +1 validated p.R155I 1.000 82 0% 42 54.8% 6 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GRIN2B 2904 genome.wustl.edu 37 12 13722946 13722946 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000834.3 -1 reviewed p.L726R 1.000 43 0% 31 48.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 GRIN2B 2904 genome.wustl.edu 37 12 13764727 13764727 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000834.3 -1 reviewed p.A571V 1.000 58 0% 38 47.4% 0 - benign(0.006) deleterious(0) neutral(0.445) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 ATF7IP 55729 genome.wustl.edu 37 12 14577090 14577090 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018179.3 +1 validated p.P81S 0.000 177 0% 69 21.7% 10 0% unknown(0) tolerated(0.9) - NULL ATF7IP 55729 genome.wustl.edu 37 12 14577525 14577525 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018179.3 +1 validated p.A226T 0.001 71 0% 58 53.4% 26 38.4% unknown(0) tolerated(0.42) - NULL ATF7IP 55729 genome.wustl.edu 37 12 14591174 14591174 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018179.3 +1 validated p.R634 0.998 249 0% 129 45.7% 22 40.9% - - - NULL PLBD1 79887 genome.wustl.edu 37 12 14664633 14664633 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024829.5 -1 validated p.S286F 1.000 48 0% 25 48% 13 23% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Phospholip_B GUCY2C 2984 genome.wustl.edu 37 12 14822666 14822666 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004963.3 -1 validated p.I424 0.004 301 0% 131 48.1% 0 - - - - superfamily_Periplasmic binding protein-like I GUCY2C 2984 genome.wustl.edu 37 12 14836124 14836124 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004963.3 -1 validated p.E155* 0.999 156 0% 57 47.4% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ERP27 121506 genome.wustl.edu 37 12 15087906 15087906 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152321.2 -1 validated p.P73S 0.006 91 0% 46 37% 0 - benign(0) tolerated(0.64) neutral(0.003) superfamily_Thiordxn-like_fd STRAP 11171 genome.wustl.edu 37 12 16050927 16050927 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007178.3 +1 validated p.Y250 1.000 234 0% 75 41.3% 71 64.7% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like SLC15A5 729025 genome.wustl.edu 37 12 16392771 16392771 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000344941 -1 known p.N336H 0.999 126 0% 74 45.9% 0 - benign(0.198) tolerated(0.74) neutral(0.021) HMMPfam_PTR2 PIK3C2G 5288 genome.wustl.edu 37 12 18552703 18552703 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004570.4 +1 reviewed p.T705I 0.415 237 0% 126 42.1% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_ARM repeat PIK3C2G 5288 genome.wustl.edu 37 12 18576958 18576958 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004570.4 +1 reviewed p.A789V 1.000 102 0% 53 50.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_ARM repeat PLEKHA5 54477 genome.wustl.edu 37 12 19427829 19427829 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019012.3 +1 validated p.R403* 1.000 60 0% 30 46.7% 20 30% - - - NULL PLEKHA5 54477 genome.wustl.edu 37 12 19511298 19511298 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019012.3 +1 validated p.V926G 0.006 128 0% 60 48.3% 14 14.2% possibly_damaging(0.811) deleterious(0) deleterious(0.750) NULL PDE3A 5139 genome.wustl.edu 37 12 20766517 20766517 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000921.3 +1 validated p.Q384 1.000 64 0% 24 54.2% 18 33.3% - - - NULL PDE3A 5139 genome.wustl.edu 37 12 20803475 20803475 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000921.3 +1 validated p.K956E 1.000 355 0% 130 18.5% 17 5.8% possibly_damaging(0.917) deleterious(0.02) deleterious(0.751) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 SLCO1B3 28234 genome.wustl.edu 37 12 21011428 21011428 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019844.2 +1 validated p.P94 0.870 860 0% 406 85.7% 0 - - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1A2 6579 genome.wustl.edu 37 12 21453289 21453289 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021094.3 -1 reviewed p.I301 1.000 633 0% 161 20.5% 0 - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter IAPP 3375 genome.wustl.edu 37 12 21531220 21531220 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000415.2 +1 reviewed p.R44C 0.592 154 0% 73 45.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Calc_CGRP_IAPP,HMMSmart_CALCITONIN,PatternScan_CALCITONIN PYROXD1 79912 genome.wustl.edu 37 12 21608085 21608085 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024854.3 +1 validated p.E170* 1.000 334 0% 100 48% 2 0% - - - HMMPfam_Pyr_redox_2,superfamily_SSF51905 GYS2 2998 genome.wustl.edu 37 12 21716178 21716178 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021957.3 -1 reviewed p.R309* 1.000 206 0% 80 45% 0 - - - - HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase ABCC9 10060 genome.wustl.edu 37 12 22063212 22063212 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005691.2 -1 reviewed p.T400M 1.000 103 0% 50 38% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC9 10060 genome.wustl.edu 37 12 22063780 22063780 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005691.2 -1 reviewed p.N382D 1.000 144 0% 34 47.1% 2 100% possibly_damaging(0.895) deleterious(0) deleterious(0.797) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC9 10060 genome.wustl.edu 37 12 22078907 22078907 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005691.2 -1 reviewed p.I125 0.993 157 0% 63 33.3% 2 100% - - - NULL KIAA0528 9847 genome.wustl.edu 37 12 22671016 22671016 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014802.1 -1 predicted p.P286T 1.000 445 0% 172 13.4% 9 44.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL KIAA0528 9847 genome.wustl.edu 37 12 22676470 22676470 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014802.1 -1 predicted p.G230 1.000 119 0% 52 36.5% 10 20% - - - NULL ETNK1 55500 genome.wustl.edu 37 12 22837848 22837848 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018638.4 +1 reviewed p.K440T 1.000 635 0% 195 46.7% 23 73.9% benign(0.205) tolerated(0.28) neutral(0.052) superfamily_Kinase_like SOX5 6660 genome.wustl.edu 37 12 23893906 23893906 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006940.4 -1 reviewed p.L212 0.967 66 0% 23 43.5% 0 - - - - NULL CASC1 55259 genome.wustl.edu 37 12 25263127 25263127 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018272.3 -1 validated p.S609 0.989 269 0% 104 51% 0 - - - - NULL CASC1 55259 genome.wustl.edu 37 12 25272135 25272135 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018272.3 -1 validated p.V447A 0.042 302 0% 143 42% 0 - possibly_damaging(0.706) deleterious(0.02) deleterious(0.637) NULL KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033360.2 -1 reviewed p.G12D 1.000 174 0% 118 44.9% 8 25% 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 IFLTD1 160492 genome.wustl.edu 37 12 25702394 25702394 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145728.1 -1 validated p.S59Y 0.000 173 0% 50 44% 0 - possibly_damaging(0.68) deleterious(0.03) deleterious(0.607) NULL ITPR2 3709 genome.wustl.edu 37 12 26596537 26596537 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002223.2 -1 validated p.S2130L 0.350 338 0% 151 49% 5 60% benign(0) tolerated(0.13) neutral(0.253) NULL ITPR2 3709 genome.wustl.edu 37 12 26634109 26634109 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002223.2 -1 validated p.I2026 0.947 182 0% 108 36.1% 5 60% - - - HMMPfam_RIH_assoc ITPR2 3709 genome.wustl.edu 37 12 26784846 26784846 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002223.2 -1 validated p.D963Y 1.000 54 0% 36 47.2% 6 50% benign(0.265) tolerated(0.25) neutral(0.065) NULL ITPR2 3709 genome.wustl.edu 37 12 26875423 26875423 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002223.2 -1 validated p.K144 1.000 374 0% 105 42.9% 2 100% - - - superfamily_MIR domain (Pfam 02815),HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 ASUN 55726 genome.wustl.edu 37 12 27069074 27069074 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018164.2 -1 validated p.S370F 1.000 156 0% 82 31.7% 34 44.1% possibly_damaging(0.563) deleterious(0.02) deleterious(0.576) HMMPfam_DUF2151 FGFR1OP2 26127 genome.wustl.edu 37 12 27109485 27109485 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015633.2 +1 validated p.E49* 1.000 74 0% 24 29.2% 22 40.9% - - - HMMPfam_DUF837 TM7SF3 51768 genome.wustl.edu 37 12 27128495 27128495 + Missense_Mutation SNP C C T rs182596234 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016551.2 -1 validated p.V462I 0.364 228 0% 73 50.7% 105 49.5% benign(0.005) tolerated(0.41) neutral(0.015) NULL STK38L 23012 genome.wustl.edu 37 12 27450772 27450772 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015000.3 +1 validated p.E40G 1.000 272 0% 112 42% 26 50% benign(0.002) tolerated(0.35) neutral(0.021) NULL STK38L 23012 genome.wustl.edu 37 12 27470900 27470900 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015000.3 +1 validated p.V343I 1.000 247 0% 93 26.9% 21 47.6% benign(0) tolerated(0.41) neutral(0.015) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ARNTL2 56938 genome.wustl.edu 37 12 27553572 27553572 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020183.3 +1 provisional p.N342S 0.066 195 0% 88 43.2% 4 75% benign(0.003) deleterious(0.02) neutral(0.383) NULL ARNTL2 56938 genome.wustl.edu 37 12 27568831 27568831 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020183.3 +1 provisional p.S539L 0.989 303 0% 81 49.4% 6 0% benign(0.001) tolerated(0.81) neutral(0.001) NULL C12orf70 341346 genome.wustl.edu 37 12 27623569 27623569 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145010.1 +1 validated p.A2D 0.009 105 0% 44 13.6% 0 - possibly_damaging(0.768) deleterious(0) deleterious(0.730) NULL MRPS35 60488 genome.wustl.edu 37 12 27877088 27877088 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021821.2 +1 reviewed p.R164Q 1.000 172 0% 61 41% 62 48.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_MRP-S28 MRPS35 60488 genome.wustl.edu 37 12 27908320 27908320 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021821.2 +1 reviewed p.E303D 0.970 116 0% 66 34.8% 23 39.1% benign(0.032) tolerated(0.08) neutral(0.301) NULL FAR2 55711 genome.wustl.edu 37 12 29464035 29464035 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018099.3 +1 provisional p.V281 0.778 270 0% 113 38.9% 12 50% - - - HMMPfam_NAD_binding_4,superfamily_NAD(P)-bd ERGIC2 51290 genome.wustl.edu 37 12 29494750 29494750 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016570.2 -1 validated e12-1 1.000 223 0% 60 38.3% 0 - - - - - ERGIC2 51290 genome.wustl.edu 37 12 29524560 29524560 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016570.2 -1 validated p.R3* 1.000 231 0% 54 40.7% 17 17.6% - - - NULL OVCH1 341350 genome.wustl.edu 37 12 29596324 29596324 + Missense_Mutation SNP C C T rs190712690 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183378.2 -1 validated p.E1043K 0.341 385 0% 108 43.5% 0 - possibly_damaging(0.806) tolerated(0.54) neutral(0.311) superfamily_Spermadhesin CUB domain OVCH1 341350 genome.wustl.edu 37 12 29639220 29639220 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183378.2 -1 validated p.S318R 0.004 280 0% 110 44.5% 0 - benign(0.337) tolerated(0.36) neutral(0.126) NULL TMTC1 83857 genome.wustl.edu 37 12 29709864 29709864 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175861.2 -1 provisional p.K426N 1.000 216 0% 102 39.2% 14 42.8% benign(0.286) tolerated(0.06) neutral(0.410) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_Protein prenylyltransferase TMTC1 83857 genome.wustl.edu 37 12 29786226 29786226 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175861.2 -1 provisional p.L220M 1.000 39 0% 30 26.7% 14 35.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF1736 TMTC1 83857 genome.wustl.edu 37 12 29920880 29920880 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175861.2 -1 provisional p.A36D 0.996 163 0.6% 49 32.7% 20 35% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL IPO8 10526 genome.wustl.edu 37 12 30783829 30783829 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006390.2 -1 reviewed p.A1027T 0.058 326 0% 137 33.6% 7 71.4% benign(0) tolerated(0.2) neutral(0.049) NULL IPO8 10526 genome.wustl.edu 37 12 30784869 30784869 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006390.2 -1 reviewed p.Q992H 1.000 26 0% 12 33.3% 24 12.5% benign(0.354) tolerated(0.06) neutral(0.434) NULL IPO8 10526 genome.wustl.edu 37 12 30819109 30819109 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006390.2 -1 reviewed p.E407D 1.000 136 0% 64 34.4% 5 0% benign(0.01) tolerated(0.68) neutral(0.003) superfamily_ARM-type_fold IPO8 10526 genome.wustl.edu 37 12 30829487 30829487 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006390.2 -1 reviewed p.T225I 0.677 228 0% 118 44.1% 11 81.8% benign(0.008) tolerated(0.47) neutral(0.011) superfamily_ARM-type_fold CAPRIN2 65981 genome.wustl.edu 37 12 30888067 30888067 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002259.1 -1 validated p.R215Q 0.887 313 0.3% 197 87.3% 4 100% possibly_damaging(0.781) deleterious(0.04) deleterious(0.641) NULL DDX11 1663 genome.wustl.edu 37 12 31247541 31247541 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152438.1 +1 reviewed p.P463S 0.989 523 0% 372 27.4% 12 50% benign(0.015) tolerated(0.19) neutral(0.050) NULL OVOS2 144203 genome.wustl.edu 37 12 31279365 31279365 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343151.1 -1 model p.L1130I 0.764 353 0% 177 49.2% 0 - - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp OVOS2 144203 genome.wustl.edu 37 12 31302358 31302358 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343151.1 -1 model p.C312Y 1.000 258 0.4% 94 35.1% 0 - - - - NULL DENND5B 160518 genome.wustl.edu 37 12 31632774 31632774 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144973.3 -1 validated p.Q218R 0.997 325 0% 155 45.8% 7 14.2% benign(0.007) tolerated(0.64) neutral(0.003) HMMPfam_DENN,HMMSmart_SM00799 METTL20 254013 genome.wustl.edu 37 12 31819145 31819145 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135863.1 +1 validated p.D147Y 1.000 273 0% 152 40.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Methyltransf_16,superfamily_SSF53335 H3F3C 440093 genome.wustl.edu 37 12 31944799 31944799 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013699.2 -1 validated p.V101A 1.000 93 1.1% 73 19.2% 1 0% probably_damaging(0.994) - - HMMSmart_H3,HMMPfam_Histone,superfamily_Histone-fold C12orf35 55196 genome.wustl.edu 37 12 32135426 32135426 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018169.3 +1 validated p.R513W 0.000 77 0% 52 51.9% 17 52.9% possibly_damaging(0.864) deleterious(0.02) deleterious(0.718) NULL C12orf35 55196 genome.wustl.edu 37 12 32138431 32138431 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018169.3 +1 validated p.S1514 0.016 90 0% 53 54.7% 33 33.3% - - - NULL ENSG00000253063 0 genome.wustl.edu 37 12 32630374 32630374 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000517254 -1 novel NULL 0.003 641 0% 213 43.2% 0 - - - - - DNM1L 10059 genome.wustl.edu 37 12 32861112 32861112 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012062.3 +1 reviewed p.R108Q 1.000 215 0% 73 16.4% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Dynamin_N,HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases PKP2 5318 genome.wustl.edu 37 12 32949048 32949048 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004572.3 -1 reviewed p.G828 0.008 101 0% 76 47.4% 10 20% - - - HMMSmart_SM00185,superfamily_ARM repeat ENSG00000245482 0 genome.wustl.edu 37 12 34176848 34176848 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000501954 -1 known NULL 0.036 239 0% 106 45.3% 0 - - - - - KIF21A 55605 genome.wustl.edu 37 12 39735910 39735910 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017641.3 -1 validated p.D564N 1.000 829 0% 237 46.8% 1 0% benign(0) tolerated(1) - NULL KIF21A 55605 genome.wustl.edu 37 12 39751149 39751149 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017641.3 -1 validated p.R436C 1.000 226 0% 93 43% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCD2 225 genome.wustl.edu 37 12 39979985 39979985 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005164.3 -1 reviewed p.V587 0.991 282 0% 111 45% 2 0% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases C12orf40 283461 genome.wustl.edu 37 12 40114899 40114899 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031748.2 +1 validated p.S602Y 0.000 220 0% 49 40.8% 0 - possibly_damaging(0.745) - - NULL LRRK2 120892 genome.wustl.edu 37 12 40704285 40704285 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198578.3 +1 reviewed p.S1457Y 1.000 84 0% 37 35.1% 0 - probably_damaging(0.963) tolerated(0.19) neutral(0.455) superfamily_SSF52540 LRRK2 120892 genome.wustl.edu 37 12 40758823 40758823 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198578.3 +1 reviewed p.S2454L 1.000 150 0% 44 47.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_WD40_like CNTN1 1272 genome.wustl.edu 37 12 41316163 41316163 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001843.2 +1 reviewed p.I111M 0.339 218 0% 76 17.1% 7 14.2% benign(0.133) tolerated(0.2) neutral(0.060) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PDZRN4 29951 genome.wustl.edu 37 12 41585299 41585299 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000402685 +1 known p.E230* 1.000 379 0% 162 42.6% 0 - - - - HMMPfam_PDZ,superfamily_PDZ domain-like PDZRN4 29951 genome.wustl.edu 37 12 41831759 41831759 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013377.3 +1 validated p.L5 1.000 324 0% 76 38.2% 0 - - - - NULL PDZRN4 29951 genome.wustl.edu 37 12 41900312 41900312 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013377.3 +1 validated p.R42C 1.000 115 0% 38 60.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PDZ PDZRN4 29951 genome.wustl.edu 37 12 41900435 41900435 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013377.3 +1 validated p.E83K 1.000 90 0% 36 41.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PDZRN4 29951 genome.wustl.edu 37 12 41966269 41966269 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013377.3 +1 validated p.R305Q 0.999 84 0% 24 37.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GXYLT1 283464 genome.wustl.edu 37 12 42499642 42499642 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173601.1 -1 validated p.R281Q 1.000 286 0% 103 44.7% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases GXYLT1 283464 genome.wustl.edu 37 12 42523611 42523611 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173601.1 -1 validated p.M88I 1.000 215 0% 85 42.4% 0 - benign(0.022) deleterious(0) neutral(0.446) NULL LOC100288182 100288182 genome.wustl.edu 37 12 42853866 42853866 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343186.1 +1 model p.S93A 0.000 108 0% 65 23.1% 4 0% - - - NULL PRICKLE1 144165 genome.wustl.edu 37 12 42858859 42858859 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144881.1 -1 reviewed p.R326Q 0.814 81 0% 50 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAMTS20 80070 genome.wustl.edu 37 12 43770410 43770410 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025003.3 -1 validated p.C1681Y 0.992 262 0% 114 42.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS20 80070 genome.wustl.edu 37 12 43833724 43833724 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025003.3 -1 validated p.R813 0.138 463 0% 189 51.3% 0 - - - - HMMPfam_ADAM_spacer1 ADAMTS20 80070 genome.wustl.edu 37 12 43886329 43886329 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025003.3 -1 validated p.D352A 1.000 190 0% 118 14.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ANO6 196527 genome.wustl.edu 37 12 45796888 45796888 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142679.1 +1 validated p.S549N 1.000 379 0% 145 39.3% 10 20% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ANO6 196527 genome.wustl.edu 37 12 45814882 45814882 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142679.1 +1 validated p.M749T 1.000 238 0% 95 38.9% 16 56.2% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_DUF590 ARID2 196528 genome.wustl.edu 37 12 46230572 46230572 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152641.2 +1 validated p.R274Q 1.000 439 0.2% 218 46.3% 5 40% probably_damaging(0.993) tolerated(0.06) deleterious(0.772) NULL ARID2 196528 genome.wustl.edu 37 12 46233125 46233125 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000422737 +1 known p.V422A 1.000 97 0% 60 41.7% 8 25% - - - NULL ARID2 196528 genome.wustl.edu 37 12 46298840 46298840 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152641.2 +1 validated p.K1829N 1.000 216 0% 89 37.1% 8 25% benign(0.053) deleterious(0.02) neutral(0.387) NULL SCAF11 9169 genome.wustl.edu 37 12 46320729 46320729 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004719.2 -1 validated p.D919Y 1.000 180 0% 87 44.8% 16 43.7% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL SCAF11 9169 genome.wustl.edu 37 12 46321461 46321461 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004719.2 -1 validated p.T675A 0.000 162 0% 63 15.9% 12 8.3% benign(0.001) tolerated(0.05) neutral(0.345) NULL SLC38A1 81539 genome.wustl.edu 37 12 46582765 46582765 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000354341 -1 known p.T483M 0.000 100 0% 36 44.4% 25 40% - - - NULL SLC38A2 54407 genome.wustl.edu 37 12 46765006 46765006 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018976.4 -1 validated p.S24N 1.000 199 0% 130 32.3% 76 51.3% benign(0.429) tolerated(0.14) neutral(0.389) NULL AMIGO2 347902 genome.wustl.edu 37 12 47472052 47472052 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143668.1 -1 validated p.R245H 0.918 36 0% 33 15.2% 15 0% benign(0.034) tolerated(0.54) neutral(0.009) HMMSmart_LRRCT,superfamily_SSF52058 ENDOU 8909 genome.wustl.edu 37 12 48110685 48110685 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006025.3 -1 reviewed p.R139H 0.761 165 0% 127 52% 0 - benign(0.001) tolerated(0.54) neutral(0.007) HMMPfam_XendoU RAPGEF3 10411 genome.wustl.edu 37 12 48137357 48137357 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098531.2 -1 validated p.G594D 0.899 21 0% 28 46.4% 1 100% probably_damaging(0.961) tolerated(0.07) deleterious(0.723) superfamily_Ras GEF HDAC7 51564 genome.wustl.edu 37 12 48177971 48177971 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380610 -1 known p.W993* 1.000 21 0% 18 33.3% 43 39.5% - - - NULL VDR 7421 genome.wustl.edu 37 12 48258886 48258886 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000376.2 -1 reviewed p.R74H 1.000 27 0% 21 38.1% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) COL2A1 1280 genome.wustl.edu 37 12 48369786 48369786 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001844.4 -1 reviewed p.P1186H 1.000 23 0% 25 40% 4 75% unknown(0) deleterious(0) - HMMPfam_Collagen COL2A1 1280 genome.wustl.edu 37 12 48378778 48378778 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001844.4 -1 reviewed p.N611 1.000 33 0% 19 47.4% 9 33.3% - - - HMMPfam_Collagen ASB8 140461 genome.wustl.edu 37 12 48547192 48547192 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024095.3 -1 validated p.R30C 1.000 130 0% 89 44.9% 17 70.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNORA34 677815 genome.wustl.edu 37 12 49048248 49048248 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_002968.1 -1 provisional NULL 0.998 48 0% 27 44.4% 4 0% - - - - CACNB3 784 genome.wustl.edu 37 12 49217528 49217528 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000725.2 +1 validated p.C78Y 1.000 51 0% 57 42.1% 35 45.7% possibly_damaging(0.849) deleterious(0.02) deleterious(0.709) superfamily_SH3-domain RND1 27289 genome.wustl.edu 37 12 49252018 49252018 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014470.3 -1 validated p.A154T 0.974 56 0% 51 45.1% 1 0% benign(0.004) tolerated(0.49) neutral(0.011) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RND1 27289 genome.wustl.edu 37 12 49254844 49254844 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014470.3 -1 validated p.R130Q 1.000 27 0% 31 38.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PRKAG1 5571 genome.wustl.edu 37 12 49396974 49396974 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002733.3 -1 reviewed p.L281M 1.000 192 0% 161 54% 60 46.6% possibly_damaging(0.795) tolerated(0.1) deleterious(0.585) HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631 PRKAG1 5571 genome.wustl.edu 37 12 49399304 49399304 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002733.3 -1 reviewed p.L64S 1.000 109 0.9% 59 35.6% 37 48.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CBS,HMMSmart_CBS MLL2 8085 genome.wustl.edu 37 12 49416077 49416077 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003482.3 -1 validated p.T5466 0.045 83 0% 53 39.6% 42 28.5% - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain MLL2 8085 genome.wustl.edu 37 12 49425145 49425145 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003482.3 -1 validated p.H4448R 1.000 30 0% 29 31% 19 78.9% unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49427312 49427312 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003482.3 -1 validated p.Q3726* 1.000 5 0.000 12 0.333 13 53.8% - - - NULL MLL2 8085 genome.wustl.edu 37 12 49438624 49438624 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003482.3 -1 validated p.G1622 0.983 34 0% 41 36.6% 9 66.6% - - - NULL LMBR1L 55716 genome.wustl.edu 37 12 49491511 49491511 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018113.2 -1 validated p.L472 0.998 28 0% 28 39.3% 29 55.1% - - - NULL TUBA1A 7846 genome.wustl.edu 37 12 49578950 49578950 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006009.2 -1 reviewed p.A400V 1.000 154 0% 132 14.4% 218 7.3% benign(0.418) deleterious(0) deleterious(0.580) superfamily_Tubulin C-terminal domain-like TROAP 10024 genome.wustl.edu 37 12 49724137 49724137 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005480.3 +1 validated p.P503 0.229 32 0% 47 53.2% 27 33.3% - - - NULL DNAJC22 79962 genome.wustl.edu 37 12 49743154 49743154 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024902.2 +1 provisional p.R167C 1.000 25 0% 30 43.3% 14 35.7% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SPATS2 65244 genome.wustl.edu 37 12 49883261 49883261 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023071.3 +1 validated p.R40H 1.000 278 0% 128 33.6% 19 36.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KCNH3 23416 genome.wustl.edu 37 12 49937103 49937103 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012284.1 +1 validated p.A209T 0.997 16 0% 12 41.7% 3 66.6% benign(0.183) tolerated(0.26) neutral(0.051) NULL KCNH3 23416 genome.wustl.edu 37 12 49938098 49938098 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012284.1 +1 validated p.V374 1.000 17 0% 15 40% 2 0% - - - HMMPfam_Ion_trans,superfamily_SSF81324 KCNH3 23416 genome.wustl.edu 37 12 49948128 49948128 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012284.1 +1 validated p.D643N 0.999 10 0.000 8 0.625 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding MCRS1 10445 genome.wustl.edu 37 12 49952465 49952465 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012300.1 -1 validated p.A463 1.000 13 0% 22 31.8% 86 44.1% - - - NULL MCRS1 10445 genome.wustl.edu 37 12 49953520 49953520 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012300.1 -1 validated p.S345I 1.000 20 0% 32 65.6% 73 39.7% benign(0.029) deleterious(0.04) neutral(0.350) NULL FAM186B 84070 genome.wustl.edu 37 12 49993257 49993257 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032130.2 -1 validated p.S722 0.985 48 0% 41 12.2% 1 0% - - - NULL FAM186B 84070 genome.wustl.edu 37 12 49993563 49993563 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032130.2 -1 validated p.P620 0.001 40 0% 49 42.9% 2 0% - - - NULL FMNL3 91010 genome.wustl.edu 37 12 50043318 50043318 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175736.4 -1 validated p.L747F 1.000 107 0% 68 41.2% 8 37.5% benign(0.132) deleterious(0.01) neutral(0.417) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd TMBIM6 7009 genome.wustl.edu 37 12 50152177 50152177 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098576.1 +1 validated p.T174I 1.000 289 0% 240 16.3% 532 10.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) PatternScan_BI1,HMMPfam_UPF0005 AQP6 363 genome.wustl.edu 37 12 50367181 50367181 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001652.3 +1 reviewed p.K75N 1.000 10 0% 11 36.4% 2 50% possibly_damaging(0.907) deleterious(0) deleterious(0.805) HMMPfam_MIP,superfamily_MIP AQP6 363 genome.wustl.edu 37 12 50369415 50369415 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001652.3 +1 reviewed p.S270 0.001 16 0% 16 50% 2 50% - - - NULL RACGAP1 29127 genome.wustl.edu 37 12 50386109 50386109 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001126103.1 -1 validated p.V499 1.000 91 0% 48 43.8% 36 44.4% - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ASIC1 41 genome.wustl.edu 37 12 50452634 50452634 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020039.2 +1 reviewed p.G29S 1.000 11 0% 12 33.3% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ASC LIMA1 51474 genome.wustl.edu 37 12 50571459 50571459 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113546.1 -1 validated p.W557* 1.000 95 0% 81 49.4% 10 20% - - - NULL FAM186A 121006 genome.wustl.edu 37 12 50744330 50744330 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145475.1 -1 provisional p.S2095 0.004 296 0% 223 11.7% 0 - - - - NULL FAM186A 121006 genome.wustl.edu 37 12 50747151 50747151 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145475.1 -1 provisional p.P1155Q 0.000 75 0% 62 17.7% 0 - possibly_damaging(0.722) tolerated(0.47) neutral(0.273) NULL FAM186A 121006 genome.wustl.edu 37 12 50748691 50748691 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145475.1 -1 provisional p.S642T 0.000 101 0% 36 36.1% 0 - benign(0.256) deleterious(0.04) neutral(0.376) NULL ATF1 466 genome.wustl.edu 37 12 51189733 51189733 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005171.3 +1 validated p.S45 0.744 181 0% 86 40.7% 10 20% - - - HMMPfam_pKID TMPRSS12 283471 genome.wustl.edu 37 12 51252610 51252610 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182559.2 +1 validated p.I142M 0.001 154 0% 73 47.9% 0 - possibly_damaging(0.915) tolerated(0.19) neutral(0.416) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SLC11A2 4891 genome.wustl.edu 37 12 51390716 51390716 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000617.2 -1 reviewed p.G239S 1.000 41 0% 22 36.4% 43 53.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nramp LETMD1 25875 genome.wustl.edu 37 12 51450194 51450194 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015416.3 +1 validated p.R275H 1.000 108 0% 58 29.3% 44 34% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LETM1 POU6F1 5463 genome.wustl.edu 37 12 51590653 51590653 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_026893.1 -1 validated NULL 1.000 57 0% 54 50% 2 50% - - - - CELA1 1990 genome.wustl.edu 37 12 51735145 51735145 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001971.5 -1 reviewed p.R116C 1.000 58 0% 39 51.3% 0 - probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys NR4A1 3164 genome.wustl.edu 37 12 52450347 52450347 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002135.3 +1 reviewed p.A359D 1.000 18 0% 29 31% 67 41.7% benign(0.168) deleterious(0.03) neutral(0.380) superfamily_Nuclear receptor ligand-binding domain NR4A1 3164 genome.wustl.edu 37 12 52450425 52450425 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002135.3 +1 reviewed p.S385F 1.000 15 0% 28 57.1% 57 33.3% possibly_damaging(0.679) deleterious(0) deleterious(0.686) superfamily_Nuclear receptor ligand-binding domain KRT83 3889 genome.wustl.edu 37 12 52713006 52713006 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002282.3 -1 reviewed p.A176D 1.000 64 0% 67 32.8% 0 - probably_damaging(0.997) tolerated(0.38) deleterious(0.484) HMMPfam_Filament KRT77 374454 genome.wustl.edu 37 12 53090208 53090208 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175078.2 -1 reviewed p.E255D 1.000 106 0% 63 14.3% 0 - probably_damaging(0.992) tolerated(0.06) deleterious(0.770) HMMPfam_Filament KRT76 51350 genome.wustl.edu 37 12 53171005 53171005 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015848.4 -1 reviewed p.V24A 0.779 47 0% 38 28.9% 0 - unknown(0) tolerated(0.23) - NULL KRT4 3851 genome.wustl.edu 37 12 53205601 53205601 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002272.2 -1 reviewed p.R282H 0.766 124 0% 107 10.3% 0 - benign(0.031) deleterious(0.04) neutral(0.350) HMMPfam_Filament ENSG00000247550 0 genome.wustl.edu 37 12 53433281 53433281 + RNA SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000499537 -1 novel NULL 0.000 92 0% 51 43.1% 4 0% - - - - TENC1 23371 genome.wustl.edu 37 12 53452596 53452596 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015319.2 +1 reviewed p.E474K 1.000 13 0% 13 38.5% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SPRYD3 84926 genome.wustl.edu 37 12 53470997 53470997 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032840.2 -1 validated p.F24L 1.000 125 0% 103 51.5% 18 50% benign(0.002) tolerated(0.16) neutral(0.059) NULL CSAD 51380 genome.wustl.edu 37 12 53567175 53567175 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015989.4 -1 validated p.V54A 0.947 41 0% 34 50% 5 20% benign(0.017) tolerated(0.23) neutral(0.042) NULL CSAD 51380 genome.wustl.edu 37 12 53567187 53567187 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015989.4 -1 validated p.A50V 0.005 40 0% 33 39.4% 3 33.3% benign(0.024) tolerated(0.4) neutral(0.017) NULL ITGB7 3695 genome.wustl.edu 37 12 53594184 53594184 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000889.1 -1 provisional p.S15N 1.000 45 0% 32 28.1% 0 - benign(0.007) tolerated(0.28) neutral(0.032) NULL RARG 5916 genome.wustl.edu 37 12 53607927 53607927 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000425354 -1 known p.S182N 1.000 34 0% 31 25.8% 32 3.1% - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain ESPL1 9700 genome.wustl.edu 37 12 53673580 53673580 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012291.4 +1 validated p.S810L 0.000 18 0% 20 35% 5 40% benign(0) tolerated(0.08) neutral(0.300) NULL ESPL1 9700 genome.wustl.edu 37 12 53681861 53681861 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012291.4 +1 validated p.A1428T 0.153 15 0.000 7 0.571 8 75% benign(0) tolerated(0.86) neutral(0.001) NULL ESPL1 9700 genome.wustl.edu 37 12 53684634 53684634 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012291.4 +1 validated p.A1792T 0.820 40 0% 34 23.5% 10 40% benign(0) tolerated(0.96) - HMMPfam_Peptidase_C50 ESPL1 9700 genome.wustl.edu 37 12 53686741 53686741 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012291.4 +1 validated p.I2050V 1.000 56 0% 41 46.3% 17 47% benign(0.232) deleterious(0.02) neutral(0.406) HMMPfam_Peptidase_C50 AAAS 8086 genome.wustl.edu 37 12 53708190 53708190 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015665.5 -1 reviewed p.R194Q 1.000 44 0% 46 37% 87 63.2% probably_damaging(0.983) deleterious(0.04) deleterious(0.778) HMMSmart_WD40,superfamily_WD40_like AMHR2 269 genome.wustl.edu 37 12 53818568 53818568 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020547.2 +1 reviewed p.G103D 0.975 7 0.000 15 0.467 0 - benign(0.236) tolerated(0.41) neutral(0.038) superfamily_Snake toxin-like HOXC6 3223 genome.wustl.edu 37 12 54422555 54422555 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004503.3 +1 reviewed p.L84I 1.000 60 0% 53 13.2% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL HOXC6 3223 genome.wustl.edu 37 12 54422673 54422673 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004503.3 +1 reviewed p.Y123C 1.000 72 0% 42 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ANTENNAPEDIA COPZ1 22818 genome.wustl.edu 37 12 54741614 54741614 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016057.1 +1 provisional p.E127D 1.000 461 0% 309 40.5% 161 52.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Clat_adaptor_s,superfamily_SNARE-like GTSF1 121355 genome.wustl.edu 37 12 54854250 54854250 + Missense_Mutation SNP G G A rs186804345 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144594.2 -1 validated p.A133V 1.000 113 0% 90 42.2% 0 - benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_UPF0224 LACRT 90070 genome.wustl.edu 37 12 55026130 55026130 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033277.1 -1 reviewed p.P50S 0.000 170 0% 107 37.4% 0 - benign(0.001) tolerated(1) - NULL NEUROD4 58158 genome.wustl.edu 37 12 55420723 55420723 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021191.2 +1 validated p.S167N 1.000 52 0% 28 39.3% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_HLH_basic OR9K2 441639 genome.wustl.edu 37 12 55524252 55524252 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005243.1 +1 provisional p.P234S 0.001 180 0% 71 49.3% 0 - probably_damaging(1) tolerated(0.48) deleterious(0.510) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6C6 283365 genome.wustl.edu 37 12 55688102 55688102 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005493.1 -1 provisional p.K305N 0.349 142 0% 45 55.6% 0 - benign(0.043) deleterious(0.01) neutral(0.408) superfamily_SSF81321 OR6C6 283365 genome.wustl.edu 37 12 55688625 55688625 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005493.1 -1 provisional p.P131Q 0.003 46 0% 22 22.7% 0 - possibly_damaging(0.455) tolerated(0.39) neutral(0.165) HMMPfam_7tm_1,superfamily_SSF81321 OR6C1 390321 genome.wustl.edu 37 12 55714592 55714592 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005182.1 +1 provisional p.S70L 0.007 301 0% 96 50% 0 - possibly_damaging(0.681) tolerated(1) neutral(0.243) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PHC1P1 653441 genome.wustl.edu 37 12 55805812 55805812 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000326184 -1 known p.S903 0.928 207 0% 125 42.4% 21 0% - - - NULL ITGA7 3679 genome.wustl.edu 37 12 56081844 56081844 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144996.1 -1 reviewed p.V1036M 1.000 32 0% 43 44.2% 2 0% benign(0.257) tolerated(0.24) neutral(0.064) superfamily_Integrin domains SARNP 84324 genome.wustl.edu 37 12 56188601 56188601 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033082.3 -1 reviewed p.R123W 0.994 88 0% 37 67.6% 54 1.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SARNP 84324 genome.wustl.edu 37 12 56189808 56189808 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033082.3 -1 reviewed e5+1 1.000 386 0% 136 46.3% 0 - - - - - MMP19 4327 genome.wustl.edu 37 12 56230955 56230955 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002429.4 -1 reviewed p.N464 0.004 156 0% 77 42.9% 3 0% - - - superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 WIBG 84305 genome.wustl.edu 37 12 56295804 56295804 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032345.2 -1 validated p.N156S 1.000 70 0% 65 58.5% 32 40.6% possibly_damaging(0.527) deleterious(0.05) deleterious(0.523) NULL CDK2 1017 genome.wustl.edu 37 12 56360830 56360830 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001798.3 +1 reviewed p.G13D 1.000 123 0% 117 39.3% 26 30.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase ESYT1 23344 genome.wustl.edu 37 12 56537074 56537074 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015292.2 +1 validated p.S1061F 1.000 64 0% 56 46.4% 66 48.4% probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SMARCC2 6601 genome.wustl.edu 37 12 56558433 56558433 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003075.3 -1 reviewed p.A1074 1.000 88 0% 73 39.7% 60 41.6% - - - NULL SMARCC2 6601 genome.wustl.edu 37 12 56568539 56568539 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003075.3 -1 reviewed p.A464 0.989 95 0% 69 29% 56 39.2% - - - HMMPfam_SWIRM SMARCC2 6601 genome.wustl.edu 37 12 56578891 56578891 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003075.3 -1 reviewed p.R108C 1.000 149 1.3% 116 32.8% 28 32.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL RNF41 10193 genome.wustl.edu 37 12 56604188 56604188 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005785.2 -1 reviewed p.N85 1.000 23 0% 37 18.9% 62 8% - - - superfamily_TRAF domain-like,superfamily_RING/U-box ANKRD52 283373 genome.wustl.edu 37 12 56646830 56646830 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173595.3 -1 validated p.L381I 1.000 63 0% 61 49.2% 34 41.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK COQ10A 93058 genome.wustl.edu 37 12 56661712 56661712 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144576.3 +1 validated p.R90H 1.000 76 0% 69 52.2% 8 62.5% possibly_damaging(0.885) deleterious(0.01) deleterious(0.752) NULL PAN2 9924 genome.wustl.edu 37 12 56713126 56713126 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127460.2 -1 reviewed p.G1083D 1.000 182 0% 99 38.4% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00479,superfamily_Ribonuclease H-like,HMMPfam_Exonuc_X-T STAT2 6773 genome.wustl.edu 37 12 56742814 56742814 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005419.3 -1 reviewed p.K490N 0.001 30 0% 29 55.2% 25 36% unknown(0) tolerated(0.48) - superfamily_p53-like transcription factors,HMMPfam_STAT_bind STAT2 6773 genome.wustl.edu 37 12 56748600 56748600 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005419.3 -1 reviewed p.L199M 0.815 298 0% 190 40% 16 25% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) HMMPfam_STAT_alpha,superfamily_STAT TIMELESS 8914 genome.wustl.edu 37 12 56814388 56814388 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003920.3 -1 validated p.R1065C 0.990 37 0% 28 42.9% 35 51.4% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_TIMELESS_C ATP5B 506 genome.wustl.edu 37 12 57037270 57037270 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001686.3 -1 reviewed p.G237S 1.000 164 0% 92 37% 567 44% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ATP-synt_ab,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases GPR182 11318 genome.wustl.edu 37 12 57389825 57389825 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007264.3 +1 reviewed p.L278M 0.057 47 0% 34 26.5% 0 - benign(0.052) tolerated(0.29) neutral(0.032) HMMPfam_7tm_1,superfamily_SSF81321 TAC3 6866 genome.wustl.edu 37 12 57406442 57406442 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000357616 -1 known p.K124 0.000 91 0% 52 55.8% 0 - - - - NULL MYO1A 4640 genome.wustl.edu 37 12 57430558 57430558 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005379.2 -1 reviewed p.K758Q 1.000 316 0% 191 17.3% 0 - benign(0.349) tolerated(0.33) neutral(0.135) HMMPfam_IQ,HMMSmart_IQ MYO1A 4640 genome.wustl.edu 37 12 57437031 57437031 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005379.2 -1 reviewed p.V335G 0.996 161 0% 91 41.8% 0 - benign(0.046) tolerated(0.07) neutral(0.322) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 STAT6 6778 genome.wustl.edu 37 12 57500334 57500334 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003153.4 -1 reviewed p.A170T 0.735 171 0% 110 37.3% 26 53.8% benign(0) tolerated(0.12) neutral(0.261) HMMPfam_STAT_alpha,superfamily_STAT LRP1 4035 genome.wustl.edu 37 12 57567663 57567663 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002332.2 +1 reviewed p.S1149 0.240 39 0% 32 53.1% 41 53.6% - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module LRP1 4035 genome.wustl.edu 37 12 57591140 57591140 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002332.2 +1 reviewed p.D3045 0.518 57 0% 61 39.3% 42 57.1% - - - superfamily_YWTD domain LRP1 4035 genome.wustl.edu 37 12 57598275 57598275 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002332.2 +1 reviewed p.D3678E 1.000 42 0% 33 36.4% 66 40.9% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module LRP1 4035 genome.wustl.edu 37 12 57599192 57599192 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002332.2 +1 reviewed p.C3798 0.904 8 0.000 6 0.667 56 32.1% - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin LRP1 4035 genome.wustl.edu 37 12 57600463 57600463 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002332.2 +1 reviewed p.A3933V 0.847 34 0% 27 40.7% 90 42.2% benign(0.018) tolerated(0.54) neutral(0.008) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain SHMT2 6472 genome.wustl.edu 37 12 57625551 57625551 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005412.5 +1 reviewed p.A123T 1.000 47 0% 43 53.5% 148 49.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_SHMT,superfamily_PyrdxlP-dep_Trfase_major GLI1 2735 genome.wustl.edu 37 12 57858456 57858456 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005269.2 +1 reviewed p.G65D 0.047 37 0% 31 35.5% 1 0% possibly_damaging(0.55) deleterious(0.01) deleterious(0.593) NULL MBD6 114785 genome.wustl.edu 37 12 57919952 57919952 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052897.3 +1 validated p.L401I 0.891 33 0% 40 37.5% 82 50% unknown(0) - - NULL MBD6 114785 genome.wustl.edu 37 12 57920417 57920417 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052897.3 +1 validated p.E497K 0.865 15 0% 17 29.4% 44 36.3% unknown(0) - - NULL ARHGEF25 115557 genome.wustl.edu 37 12 58009470 58009470 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111270.1 +1 validated p.G444E 1.000 102 0% 92 34.8% 53 49% probably_damaging(1) tolerated(0.13) deleterious(0.752) superfamily_PH domain-like AGAP2 116986 genome.wustl.edu 37 12 58128374 58128374 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122772.1 -1 validated e3+1 1.000 83 0% 68 39.7% 0 - - - - - MARCH9 92979 genome.wustl.edu 37 12 58150751 58150751 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138396.4 +1 validated p.R133C 1.000 11 0% 13 46.2% 18 72.2% benign(0.309) deleterious(0) deleterious(0.541) HMMSmart_SM00744,HMMPfam_zf-C3HC4 CYP27B1 1594 genome.wustl.edu 37 12 58157400 58157400 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000785.3 -1 reviewed p.L469 1.000 44 0% 29 13.8% 1 100% - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP27B1 1594 genome.wustl.edu 37 12 58157883 58157883 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000785.3 -1 reviewed p.N405H 1.000 56 0% 66 48.5% 5 40% possibly_damaging(0.639) tolerated(0.07) deleterious(0.542) HMMPfam_p450,superfamily_Cytochrome P450 TSFM 10102 genome.wustl.edu 37 12 58180024 58180024 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005726.5 +1 reviewed p.E104K 1.000 166 0% 84 33.3% 29 51.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_EF_TS,superfamily_Elongation factor Ts (EF-Ts) dimerisation domain SLC16A7 9194 genome.wustl.edu 37 12 60169010 60169010 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004731.3 +1 provisional p.R312* 0.997 314 0% 86 47.7% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC16A7 9194 genome.wustl.edu 37 12 60173310 60173310 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004731.3 +1 provisional p.Y429 1.000 120 0.8% 45 42.2% 0 - - - - superfamily_MFS_gen_substrate_transporter PPM1H 57460 genome.wustl.edu 37 12 63042319 63042319 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020700.1 -1 validated p.D499N 1.000 121 0% 64 18.8% 15 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain PPM1H 57460 genome.wustl.edu 37 12 63114004 63114004 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020700.1 -1 validated p.Q340 1.000 323 0% 134 35.1% 7 28.5% - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain SRGAP1 57522 genome.wustl.edu 37 12 64377783 64377783 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020762.2 +1 validated p.R42* 1.000 143 0% 59 13.6% 2 0% - - - HMMPfam_FCH,HMMSmart_SM00055 C12orf66 144577 genome.wustl.edu 37 12 64587856 64587856 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152440.4 -1 validated p.M368I 1.000 94 0% 79 45.6% 1 100% benign(0.077) tolerated(0.68) neutral(0.007) HMMPfam_DUF2003 TBK1 29110 genome.wustl.edu 37 12 64868037 64868037 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013254.2 +1 reviewed p.L190 1.000 172 0% 60 43.3% 9 33.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LEMD3 23592 genome.wustl.edu 37 12 65612348 65612348 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014319.4 +1 reviewed p.G548 1.000 208 0% 71 38% 8 37.5% - - - NULL LEMD3 23592 genome.wustl.edu 37 12 65634753 65634753 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014319.4 +1 reviewed p.R731C 1.000 195 0% 85 43.5% 19 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAN1_C LLPH 84298 genome.wustl.edu 37 12 66517676 66517676 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032338.3 -1 validated p.R112 0.000 828 0.1% 430 48.1% 57 33.3% - - - HMMPfam_Laps GRIP1 23426 genome.wustl.edu 37 12 66742964 66742964 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021150.3 -1 reviewed p.S1022 0.690 196 0% 123 49.6% 9 33.3% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like CAND1 55832 genome.wustl.edu 37 12 67696164 67696164 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018448.3 +1 validated p.A354 0.953 112 0% 55 45.5% 61 57.3% - - - superfamily_ARM repeat CAND1 55832 genome.wustl.edu 37 12 67698404 67698404 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018448.3 +1 validated p.A438V 1.000 218 0% 63 41.3% 32 50% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) superfamily_ARM repeat MDM2 4193 genome.wustl.edu 37 12 69233596 69233596 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002392.3 +1 reviewed p.P487 0.951 209 0% 98 39.8% 24 83.3% - - - superfamily_RING/U-box CPM 1368 genome.wustl.edu 37 12 69250228 69250228 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005502.2 -1 reviewed p.F441L 0.925 174 0% 77 13% 33 3% benign(0) tolerated(0.35) neutral(0.021) NULL LRRC10 376132 genome.wustl.edu 37 12 70003993 70003993 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201550.2 -1 provisional p.A209V 0.959 32 0% 28 42.9% 0 - benign(0) tolerated(0.33) neutral(0.024) superfamily_SSF52058 CNOT2 4848 genome.wustl.edu 37 12 70724133 70724133 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014515.4 +1 provisional p.I151M 1.000 108 0% 25 40% 23 52.1% benign(0) tolerated(0.21) neutral(0.044) NULL KCNMB4 27345 genome.wustl.edu 37 12 70824272 70824272 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014505.4 +1 reviewed p.D158N 0.990 67 0% 42 19% 4 25% probably_damaging(0.996) tolerated(0.76) neutral(0.463) HMMPfam_CaKB TSPAN8 7103 genome.wustl.edu 37 12 71523148 71523148 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004616.2 -1 reviewed p.I208R 0.004 268 0% 81 42% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Tetraspannin LGR5 8549 genome.wustl.edu 37 12 71972593 71972593 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003667.2 +1 provisional p.S430 0.706 330 0% 143 46.9% 27 55.5% - - - HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like ZFC3H1 196441 genome.wustl.edu 37 12 72057223 72057223 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144982.4 -1 validated p.R56 1.000 5 0.000 9 0.444 1 100% - - - NULL TBC1D15 64786 genome.wustl.edu 37 12 72288135 72288135 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022771.4 +1 reviewed p.W230R 1.000 281 0% 100 41% 1 0% benign(0.337) tolerated(0.36) neutral(0.126) NULL TRHDE 29953 genome.wustl.edu 37 12 72863540 72863540 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013381.2 +1 reviewed p.L395F 1.000 313 0% 151 43% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Peptidase_M1,superfamily_SSF55486 TRHDE 29953 genome.wustl.edu 37 12 72863633 72863633 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013381.2 +1 reviewed p.S426P 1.000 491 0% 214 38.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Peptidase_M1,superfamily_SSF55486 KCNC2 3747 genome.wustl.edu 37 12 75601430 75601430 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139137.2 -1 reviewed p.A112T 1.000 7 0.000 8 0.500 1 0% benign(0.19) tolerated(0.17) neutral(0.077) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain CAPS2 84698 genome.wustl.edu 37 12 75683521 75683521 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032606.3 -1 validated p.V444 1.000 458 0% 171 35.7% 0 - - - - superfamily_EF-hand OSBPL8 114882 genome.wustl.edu 37 12 76750488 76750488 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020841.4 -1 reviewed p.T819A 1.000 885 0% 388 44.8% 19 47.3% benign(0) tolerated(0.81) neutral(0.001) NULL CSRP2 1466 genome.wustl.edu 37 12 77256957 77256957 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001321.1 -1 reviewed p.S94G 1.000 47 0% 41 14.6% 73 20.5% benign(0) tolerated(0.27) neutral(0.034) superfamily_Glucocorticoid receptor-like (DNA-binding domain) E2F7 144455 genome.wustl.edu 37 12 77417951 77417951 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000416496 -1 known p.D719N 0.996 98 0% 74 33.8% 15 46.6% unknown(0) - - NULL NAV3 89795 genome.wustl.edu 37 12 78452857 78452857 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014903.4 +1 validated p.I866 0.981 112 0% 43 46.5% 2 50% - - - NULL NAV3 89795 genome.wustl.edu 37 12 78594320 78594320 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014903.4 +1 validated p.W2239* 1.000 575 0% 116 42.2% 0 - - - - NULL OTOGL 283310 genome.wustl.edu 37 12 80626840 80626840 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343203.1 +1 model p.Y201 0.997 203 0% 74 48.6% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80647325 80647325 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000455751 +1 known p.V138A 0.971 373 0% 166 48.8% 0 - - - - superfamily_Serine proterase inhibitors OTOGL 283310 genome.wustl.edu 37 12 80707392 80707392 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000442704 +1 known p.G33* 1.000 329 0% 163 42.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C8 PTPRQ 374462 genome.wustl.edu 37 12 80900413 80900413 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000266688 +1 known p.R841W 1.000 236 0% 91 45.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_fn3,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 80904161 80904161 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000266688 +1 known p.L873 1.000 287 0% 114 47.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LIN7A 8825 genome.wustl.edu 37 12 81239622 81239622 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004664.2 -1 validated p.G124R 1.000 126 0% 64 43.8% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PPFIA2 8499 genome.wustl.edu 37 12 81688701 81688701 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003625.2 -1 reviewed p.S946 1.000 171 0% 62 38.7% 59 44% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain PPFIA2 8499 genome.wustl.edu 37 12 81693100 81693100 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003625.2 -1 reviewed p.T902A 1.000 161 0% 72 36.1% 45 53.3% benign(0.395) tolerated(0.07) neutral(0.446) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain PPFIA2 8499 genome.wustl.edu 37 12 81741496 81741496 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003625.2 -1 reviewed p.N683S 1.000 115 0% 55 30.9% 21 76.1% benign(0) tolerated(1) - NULL PPFIA2 8499 genome.wustl.edu 37 12 82147998 82147998 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003625.2 -1 reviewed p.M1I 1.000 93 0% 55 34.5% 0 - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL C12orf26 84190 genome.wustl.edu 37 12 82783637 82783637 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032230.2 +1 validated p.S156F 1.000 388 0% 81 42% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL TMTC2 160335 genome.wustl.edu 37 12 83251132 83251132 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152588.1 +1 provisional p.G143R 1.000 81 0% 39 43.6% 10 60% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL SLC6A15 55117 genome.wustl.edu 37 12 85279800 85279800 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182767.4 -1 validated p.P113S 1.000 227 0% 109 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF LRRIQ1 84125 genome.wustl.edu 37 12 85449750 85449750 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079910.1 +1 validated p.Q393H 0.000 104 0% 59 18.6% 1 100% probably_damaging(0.961) tolerated(0.12) deleterious(0.665) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85450835 85450835 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079910.1 +1 validated p.I755S 0.849 92 0% 49 51% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_RNI-like ALX1 8092 genome.wustl.edu 37 12 85695207 85695207 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006982.2 +1 reviewed p.R312Q 1.000 131 0% 58 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OAR NTS 4922 genome.wustl.edu 37 12 86272139 86272139 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006183.3 +1 reviewed p.V51A 0.991 209 0% 96 39.6% 15 53.3% benign(0.014) tolerated(0.47) neutral(0.011) HMMPfam_Pro-NT_NN C12orf50 160419 genome.wustl.edu 37 12 88376879 88376879 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152589.1 -1 predicted e11+1 1.000 436 0% 90 44.4% 0 - - - - - C12orf29 91298 genome.wustl.edu 37 12 88440599 88440599 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009894.2 +1 validated p.K212T 1.000 359 0% 93 41.9% 25 60% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CEP290 80184 genome.wustl.edu 37 12 88500534 88500534 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025114.3 -1 reviewed p.K912R 1.000 687 0% 252 40.1% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL GALNT4 8693 genome.wustl.edu 37 12 89916772 89916772 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003774.3 -1 reviewed p.P519S 1.000 172 0% 99 40.4% 42 52.3% benign(0.222) tolerated(0.73) neutral(0.024) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins C12orf12 196477 genome.wustl.edu 37 12 91348305 91348305 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152638.2 -1 predicted p.G72D 0.000 18 0% 17 35.3% 0 - unknown(0) tolerated(0.42) - NULL LUM 4060 genome.wustl.edu 37 12 91497970 91497970 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002345.3 -1 reviewed p.R330H 0.999 148 0% 47 21.3% 58 1.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like DCN 1634 genome.wustl.edu 37 12 91539849 91539849 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001920.3 -1 reviewed p.G356R 1.000 94 0% 56 17.9% 29 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C12orf74 338809 genome.wustl.edu 37 12 93100822 93100822 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037671.2 +1 validated p.P139S 0.000 36 0% 19 52.6% 0 - possibly_damaging(0.863) - - NULL EEA1 8411 genome.wustl.edu 37 12 93221691 93221691 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003566.3 -1 validated p.E467 0.993 282 0% 141 39.7% 2 0% - - - NULL MRPL42 28977 genome.wustl.edu 37 12 93863065 93863065 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014050.2 +1 reviewed p.A2T 0.998 368 0.3% 145 16.6% 55 21.8% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL PLXNC1 10154 genome.wustl.edu 37 12 94676100 94676100 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005761.1 +1 provisional p.E1268* 1.000 90 0% 37 48.6% 1 0% - - - superfamily_Rho_GAP,HMMPfam_Plexin_cytopl USP44 84101 genome.wustl.edu 37 12 95911962 95911962 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042403.1 -1 validated p.A703T 0.132 125 0% 73 45.2% 0 - possibly_damaging(0.532) deleterious(0) deleterious(0.625) NULL CCDC38 120935 genome.wustl.edu 37 12 96272105 96272105 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182496.2 -1 validated p.L388I 0.108 344 0% 103 45.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL AMDHD1 144193 genome.wustl.edu 37 12 96350665 96350665 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152435.2 +1 validated p.R171H 0.994 13 0% 13 30.8% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases CDK17 5128 genome.wustl.edu 37 12 96674610 96674610 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002595.3 -1 reviewed p.R504* 1.000 215 0.5% 80 57.5% 7 28.5% - - - superfamily_Protein kinase-like (PK-like) CDK17 5128 genome.wustl.edu 37 12 96704843 96704843 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002595.3 -1 reviewed p.R177H 1.000 205 0% 121 43% 3 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL C12orf63 374467 genome.wustl.edu 37 12 97073532 97073532 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198520.2 +1 validated e6+2 1.000 151 0.7% 52 48.1% 0 - - - - - LOC121456 121456 genome.wustl.edu 37 12 98848660 98848660 + RNA SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_016411.2 -1 model NULL 0.904 8 0.000 11 0.545 1 0% - - - - LOC121456 121456 genome.wustl.edu 37 12 98848834 98848834 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_016411.2 -1 model NULL 0.998 13 0% 17 47.1% 1 0% - - - - TMPO 7112 genome.wustl.edu 37 12 98926902 98926902 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003276.2 +1 reviewed p.E289D 1.000 94 0% 32 25% 6 66.6% benign(0.256) deleterious(0) deleterious(0.471) NULL TMPO 7112 genome.wustl.edu 37 12 98927571 98927571 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003276.2 +1 reviewed p.Q512 0.768 119 0% 51 9.8% 13 0% - - - NULL APAF1 317 genome.wustl.edu 37 12 99053025 99053025 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181861.1 +1 reviewed p.R205Q 0.997 204 0% 104 32.7% 5 40% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_NB-ARC,superfamily_WD40 repeat-like,superfamily_P-loop containing nucleoside triphosphate hydrolases APAF1 317 genome.wustl.edu 37 12 99126246 99126246 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181861.1 +1 reviewed p.G1217* 1.000 352 0% 146 35.6% 8 62.5% - - - superfamily_WD40 repeat-like ANKS1B 56899 genome.wustl.edu 37 12 99139622 99139622 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181670.2 -1 validated p.I476 1.000 69 0% 52 46.2% 1 100% - - - NULL ANKS1B 56899 genome.wustl.edu 37 12 99192773 99192773 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152788.3 -1 validated p.S1069Y 1.000 267 0% 89 43.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like ANKS1B 56899 genome.wustl.edu 37 12 100166797 100166797 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152788.3 -1 validated p.S344L 1.000 479 0% 202 45.5% 0 - probably_damaging(0.988) deleterious(0.05) deleterious(0.783) NULL SLC17A8 246213 genome.wustl.edu 37 12 100796206 100796206 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139319.2 +1 reviewed p.K284N 0.970 304 0% 151 47% 0 - unknown(0) tolerated(0.12) - HMMPfam_MFS_1,superfamily_MFS general substrate transporter NR1H4 9971 genome.wustl.edu 37 12 100887150 100887150 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005123.2 +1 provisional p.D17Y 0.979 339 0% 80 40% 0 - possibly_damaging(0.586) deleterious(0) deleterious(0.647) NULL GAS2L3 283431 genome.wustl.edu 37 12 101018313 101018313 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174942.1 +1 provisional p.K577R 0.000 96 0% 47 42.6% 2 50% benign(0.017) tolerated(0.06) neutral(0.323) NULL ANO4 121601 genome.wustl.edu 37 12 101491440 101491440 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178826.3 +1 validated p.H586R 1.000 277 0% 87 40.2% 0 - benign(0) tolerated(0.53) neutral(0.007) NULL ANO4 121601 genome.wustl.edu 37 12 101505475 101505475 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178826.3 +1 validated p.E778* 1.000 184 0% 64 43.8% 1 0% - - - HMMPfam_DUF590 ANO4 121601 genome.wustl.edu 37 12 101510498 101510498 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178826.3 +1 validated p.R796Q 0.989 198 0% 93 40.9% 2 0% benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_DUF590 SYCP3 50511 genome.wustl.edu 37 12 102125434 102125434 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153694.4 -1 reviewed p.R155Q 1.000 227 0% 71 50.7% 0 - possibly_damaging(0.925) tolerated(0.46) neutral(0.386) HMMPfam_Cor1 GNPTAB 79158 genome.wustl.edu 37 12 102147161 102147161 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024312.4 -1 reviewed p.E1197D 1.000 178 0% 85 52.9% 29 41.3% possibly_damaging(0.719) tolerated(0.45) neutral(0.273) NULL DRAM1 55332 genome.wustl.edu 37 12 102313971 102313971 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018370.2 +1 reviewed p.D222Y 0.998 706 0% 234 37.6% 8 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Frag1 CCDC53 51019 genome.wustl.edu 37 12 102455121 102455121 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016053.2 -1 validated p.P19S 1.000 222 0% 123 40.7% 23 56.5% probably_damaging(0.954) tolerated(0.16) neutral(0.457) NULL NUP37 79023 genome.wustl.edu 37 12 102468795 102468795 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024057.2 -1 provisional p.H284R 1.000 158 0% 49 42.9% 55 47.2% unknown(0) deleterious(0) - superfamily_WD40 repeat-like PARPBP 55010 genome.wustl.edu 37 12 102542129 102542129 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017915.2 +1 predicted p.R11K 0.291 288 0% 112 39.3% 11 36.3% benign(0.004) tolerated(0.76) neutral(0.001) NULL PAH 5053 genome.wustl.edu 37 12 103245488 103245488 + Missense_Mutation SNP G G A rs62642945 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000307000 -1 known p.R297C 1.000 135 0% 57 38.6% 0 - possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase STAB2 55576 genome.wustl.edu 37 12 104142892 104142892 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017564.9 +1 reviewed p.N2132 0.905 8 0.000 14 0.571 0 - - - - HMMSmart_EGF,superfamily_SSF57196 HCFC2 29915 genome.wustl.edu 37 12 104461792 104461792 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013320.2 +1 reviewed p.R127Q 1.000 340 0% 223 22.4% 7 42.8% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 EID3 493861 genome.wustl.edu 37 12 104698629 104698629 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008394.1 +1 provisional p.V306A 0.687 242 0% 129 41.9% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nse4 TXNRD1 7296 genome.wustl.edu 37 12 104721449 104721449 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000429002 +1 known p.K518N 1.000 94 0% 80 18.8% 31 29% possibly_damaging(0.718) tolerated(0.27) neutral(0.293) NULL SLC41A2 84102 genome.wustl.edu 37 12 105322299 105322299 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032148.3 -1 validated p.N3D 1.000 61 0% 24 33.3% 8 87.5% benign(0.308) tolerated(0.16) neutral(0.155) NULL ALDH1L2 160428 genome.wustl.edu 37 12 105428095 105428095 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001034173.3 -1 reviewed p.E743K 1.000 103 0% 36 36.1% 3 66.6% benign(0.008) tolerated(0.12) neutral(0.261) HMMPfam_Aldedh,superfamily_ALDH-like ALDH1L2 160428 genome.wustl.edu 37 12 105451902 105451902 + Silent SNP G G A rs139997614 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001034173.3 -1 reviewed p.V412 0.117 261 0% 106 44.3% 2 100% - - - NULL KIAA1033 23325 genome.wustl.edu 37 12 105534820 105534820 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015275.1 +1 validated p.Q568 0.992 253 0% 139 56.1% 2 50% - - - NULL KIAA1033 23325 genome.wustl.edu 37 12 105536271 105536271 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015275.1 +1 validated p.R610* 1.000 294 0% 149 34.9% 1 0% - - - NULL KIAA1033 23325 genome.wustl.edu 37 12 105540892 105540892 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015275.1 +1 validated p.R828* 1.000 290 0% 96 43.8% 2 0% - - - NULL APPL2 55198 genome.wustl.edu 37 12 105569833 105569833 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018171.3 -1 validated p.E614* 1.000 343 0% 106 42.5% 25 56% - - - superfamily_SSF50729 APPL2 55198 genome.wustl.edu 37 12 105591646 105591646 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018171.3 -1 validated p.V317M 1.000 70 1.4% 47 51.1% 23 52.1% probably_damaging(0.99) tolerated(0.05) deleterious(0.787) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 NUAK1 9891 genome.wustl.edu 37 12 106477662 106477662 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014840.2 -1 validated p.D187N 1.000 99 0% 63 39.7% 3 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NUAK1 9891 genome.wustl.edu 37 12 106480586 106480586 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014840.2 -1 validated p.R147W 1.000 53 0% 36 50% 5 20% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC100130905 100130905 genome.wustl.edu 37 12 106633423 106633423 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001715433.1 +1 model p.R161* 0.000 7 0.000 13 0.385 126 39.6% - - - NULL TCP11L2 255394 genome.wustl.edu 37 12 106717377 106717377 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152772.1 +1 provisional p.V242A 1.000 65 0% 31 12.9% 8 12.5% possibly_damaging(0.832) deleterious(0) deleterious(0.762) HMMPfam_Tcp11 RFX4 5992 genome.wustl.edu 37 12 107048039 107048039 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213594.1 +1 reviewed p.V75 0.979 89 0% 50 40% 0 - - - - HMMPfam_RFX_DNA_binding,superfamily_SSF46785 RFX4 5992 genome.wustl.edu 37 12 107080780 107080780 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213594.1 +1 reviewed p.V166M 1.000 108 0% 65 46.2% 0 - probably_damaging(0.997) tolerated(0.11) deleterious(0.738) NULL RIC8B 55188 genome.wustl.edu 37 12 107245259 107245259 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018157.2 +1 validated p.R398Q 1.000 145 0% 74 45.9% 15 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM-type_fold,HMMPfam_Ric8 MTERFD3 80298 genome.wustl.edu 37 12 107371512 107371512 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033050.1 -1 validated p.P327 1.000 395 0% 203 38.9% 15 40% - - - HMMPfam_mTERF MTERFD3 80298 genome.wustl.edu 37 12 107371730 107371730 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033050.1 -1 validated p.L255I 1.000 137 0% 68 42.6% 8 50% benign(0.003) tolerated(0.88) - HMMPfam_mTERF MTERFD3 80298 genome.wustl.edu 37 12 107372326 107372326 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033050.1 -1 validated p.S56* 0.988 462 0% 222 42.8% 6 16.6% - - - HMMPfam_mTERF CRY1 1407 genome.wustl.edu 37 12 107393731 107393731 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004075.3 -1 validated p.L272I 1.000 156 0% 76 43.4% 16 62.5% benign(0.269) tolerated(0.48) neutral(0.039) HMMPfam_FAD_binding_7,superfamily_Cryptochrome/photolyase FAD-binding domain BTBD11 121551 genome.wustl.edu 37 12 107914389 107914389 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001018072.1 +1 validated p.R421C 1.000 15 0% 26 61.5% 1 100% probably_damaging(0.997) tolerated(1) neutral(0.466) NULL BTBD11 121551 genome.wustl.edu 37 12 108013884 108013884 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001018072.1 +1 validated p.T858 0.523 101 0% 74 41.9% 0 - - - - NULL PWP1 11137 genome.wustl.edu 37 12 108105983 108105983 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007062.1 +1 provisional p.P498T 0.118 210 0% 61 34.4% 46 50% benign(0) deleterious(0) neutral(0.445) NULL PRDM4 11108 genome.wustl.edu 37 12 108128014 108128014 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012406.3 -1 reviewed p.A793 0.000 243 0% 112 40.2% 13 46.1% - - - NULL PRDM4 11108 genome.wustl.edu 37 12 108145395 108145395 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012406.3 -1 reviewed p.N308S 1.000 71 0% 50 40% 23 47.8% benign(0.001) tolerated(0.17) neutral(0.059) NULL PRDM4 11108 genome.wustl.edu 37 12 108150609 108150609 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012406.3 -1 reviewed p.G49C 1.000 20 0% 24 41.7% 25 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CMKLR1 1240 genome.wustl.edu 37 12 108686453 108686453 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142343.1 -1 validated p.I96T 0.991 78 0% 60 30% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FICD 11153 genome.wustl.edu 37 12 108912396 108912396 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007076.2 +1 validated p.E174A 1.000 27 0% 27 40.7% 10 50% benign(0) tolerated(0.13) neutral(0.253) superfamily_SSF48452 CORO1C 23603 genome.wustl.edu 37 12 109046051 109046051 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014325.2 -1 reviewed p.A333V 1.000 153 0% 109 43.1% 62 46.7% probably_damaging(1) tolerated(0.81) deleterious(0.500) HMMPfam_DUF1900 CORO1C 23603 genome.wustl.edu 37 12 109055882 109055882 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014325.2 -1 reviewed p.V124A 1.000 75 0% 56 44.6% 73 49.3% probably_damaging(0.987) tolerated(0.06) deleterious(0.759) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SSH1 54434 genome.wustl.edu 37 12 109182812 109182812 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018984.3 -1 validated p.P701L 0.000 33 0% 32 37.5% 9 33.3% benign(0) tolerated(0.86) neutral(0.001) NULL SSH1 54434 genome.wustl.edu 37 12 109198847 109198847 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000360239 -1 known p.S17L 0.999 233 0% 103 28.2% 4 75% benign(0.001) deleterious(0) neutral(0.445) HMMSmart_DSPc DAO 1610 genome.wustl.edu 37 12 109290788 109290788 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001917.4 +1 reviewed p.A207T 0.992 76 0% 47 40.4% 0 - possibly_damaging(0.817) deleterious(0) deleterious(0.754) HMMPfam_DAO,superfamily_Nucleotide-binding domain,superfamily_FAD-linked reductases C-terminal domain ACACB 32 genome.wustl.edu 37 12 109671823 109671823 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001093.3 +1 reviewed p.P1440 0.000 79 0% 60 46.7% 1 100% - - - HMMPfam_ACC_central MYO1H 283446 genome.wustl.edu 37 12 109879449 109879449 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101421.3 +1 provisional p.I850 0.768 215 0% 103 45.6% 0 - - - - HMMPfam_Myosin_TH1 MYO1H 283446 genome.wustl.edu 37 12 109881329 109881329 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101421.3 +1 provisional p.P894L 0.990 55 0% 32 37.5% 0 - possibly_damaging(0.892) tolerated(0.53) neutral(0.359) HMMPfam_Myosin_TH1 MYO1H 283446 genome.wustl.edu 37 12 109882290 109882290 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101421.3 +1 provisional p.V977 0.971 256 0% 138 42% 1 0% - - - HMMPfam_Myosin_TH1 KCTD10 83892 genome.wustl.edu 37 12 109895865 109895865 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031954.3 -1 provisional p.P136S 1.000 275 0.4% 147 40.8% 16 43.7% possibly_damaging(0.892) deleterious(0.04) deleterious(0.700) NULL UBE3B 89910 genome.wustl.edu 37 12 109958988 109958988 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130466.2 +1 reviewed p.H704 0.951 76 0% 55 54.5% 18 38.8% - - - HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain UBE3B 89910 genome.wustl.edu 37 12 109971273 109971273 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130466.2 +1 reviewed p.F975 1.000 19 0% 28 50% 8 50% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain MVK 4598 genome.wustl.edu 37 12 110024570 110024570 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000431.2 +1 reviewed p.R215* 0.966 70 0% 53 47.2% 10 10% - - - superfamily_Ribosomal protein S5 domain 2-like C12orf34 84915 genome.wustl.edu 37 12 110205823 110205823 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032829.2 +1 validated p.A30V 0.953 10 0.000 8 0.500 7 57.1% benign(0.001) deleterious(0.04) neutral(0.349) NULL TRPV4 59341 genome.wustl.edu 37 12 110232160 110232160 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021625.4 -1 reviewed p.A489T 1.000 14 0% 18 50% 18 33.3% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL TRPV4 59341 genome.wustl.edu 37 12 110240847 110240847 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021625.4 -1 reviewed p.G221S 0.999 17 0% 16 50% 23 56.5% probably_damaging(0.995) tolerated(0.08) deleterious(0.758) superfamily_Ankyrin repeat TCHP 84260 genome.wustl.edu 37 12 110340896 110340896 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143852.1 +1 validated p.R22Q 0.736 15 0% 16 50% 9 66.6% possibly_damaging(0.829) deleterious(0) deleterious(0.759) NULL ANKRD13A 88455 genome.wustl.edu 37 12 110456189 110456189 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033121.1 +1 validated p.R147H 1.000 186 0% 116 51.7% 5 40% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL ATP2A2 488 genome.wustl.edu 37 12 110777126 110777126 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170665.3 +1 reviewed p.F487C 1.000 266 0% 146 36.3% 126 54.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ANAPC7 51434 genome.wustl.edu 37 12 110819628 110819628 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000452721 -1 known p.E381* 1.000 110 0% 61 50.8% 35 42.8% possibly_damaging(0.702) deleterious(0.01) deleterious(0.658) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like ANAPC7 51434 genome.wustl.edu 37 12 110834074 110834074 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016238.2 -1 reviewed p.S129R 0.981 227 0.4% 111 42.3% 13 69.2% benign(0.264) tolerated(0.55) neutral(0.035) superfamily_TPR-like VPS29 51699 genome.wustl.edu 37 12 110930881 110930881 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_057180.1 -1 reviewed p.H121 1.000 271 0% 118 47.5% 101 34.6% - - - HMMPfam_Metallophos,superfamily_SSF56300 CCDC63 160762 genome.wustl.edu 37 12 111321848 111321848 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152591.1 +1 provisional p.K290Q 0.777 160 0% 84 33.3% 0 - possibly_damaging(0.767) tolerated(0.23) neutral(0.326) NULL ENSG00000238168 0 genome.wustl.edu 37 12 112019424 112019424 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000423386 +1 known p.S74 0.786 23 0% 16 37.5% 0 - - - - HMMPfam_CD225 MAPKAPK5 8550 genome.wustl.edu 37 12 112323839 112323839 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139078.1 +1 reviewed p.K323T 1.000 121 0% 69 42% 51 43.1% possibly_damaging(0.898) tolerated(0.05) deleterious(0.700) superfamily_Protein kinase-like (PK-like) NAA25 80018 genome.wustl.edu 37 12 112492313 112492313 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024953.3 -1 reviewed p.P503S 1.000 95 0% 52 26.9% 6 50% benign(0.231) tolerated(0.22) neutral(0.065) HMMPfam_NatB_MDM20,superfamily_TPR-like NAA25 80018 genome.wustl.edu 37 12 112528641 112528641 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024953.3 -1 reviewed p.T58A 1.000 86 1.2% 46 32.6% 2 100% benign(0.06) tolerated(0.24) neutral(0.041) superfamily_TPR-like TRAFD1 10906 genome.wustl.edu 37 12 112578747 112578747 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143906.1 +1 validated p.R121H 1.000 112 0% 67 40.3% 27 40.7% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL C12orf51 283450 genome.wustl.edu 37 12 112616818 112616818 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001109662.2 -1 validated p.E3338 1.000 19 0% 29 31% 10 40% - - - NULL C12orf51 283450 genome.wustl.edu 37 12 112622425 112622425 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001109662.2 -1 validated p.E3027K 0.996 40 0% 73 13.7% 12 8.3% benign(0.301) - - NULL C12orf51 283450 genome.wustl.edu 37 12 112645713 112645713 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001109662.2 -1 validated p.S2277L 1.000 110 0% 59 44.1% 5 60% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL C12orf51 283450 genome.wustl.edu 37 12 112669480 112669480 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001109662.2 -1 validated p.A1591T 1.000 44 0% 24 50% 1 0% probably_damaging(0.98) - - NULL C12orf51 283450 genome.wustl.edu 37 12 112674831 112674831 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001109662.2 -1 validated p.R1366* 1.000 15 0% 10 50% 8 25% - - - NULL PTPN11 5781 genome.wustl.edu 37 12 112892383 112892383 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002834.3 +1 reviewed p.V181I 1.000 232 0% 102 44.1% 42 45.2% benign(0.007) tolerated(0.54) neutral(0.007) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain PTPN11 5781 genome.wustl.edu 37 12 112926254 112926254 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002834.3 +1 reviewed p.I463L 1.000 169 0% 111 35.1% 57 45.6% possibly_damaging(0.653) deleterious(0.02) deleterious(0.613) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II OAS2 4939 genome.wustl.edu 37 12 113440811 113440811 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016817.2 +1 reviewed p.C361* 0.123 144 0% 76 38.2% 6 0% - - - superfamily_Nucleotidyltransferase DTX1 1840 genome.wustl.edu 37 12 113532909 113532909 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004416.2 +1 reviewed p.P483 0.068 19 0% 20 30% 2 0% - - - superfamily_SSF57850 RASAL1 8437 genome.wustl.edu 37 12 113552692 113552692 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004658.1 -1 reviewed p.E365G 1.000 21 0% 25 40% 8 62.5% possibly_damaging(0.796) tolerated(0.38) neutral(0.317) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP RASAL1 8437 genome.wustl.edu 37 12 113554900 113554900 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004658.1 -1 reviewed p.P237T 0.987 33 0% 27 18.5% 5 60% possibly_damaging(0.913) tolerated(0.53) neutral(0.372) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) DDX54 79039 genome.wustl.edu 37 12 113616989 113616989 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111322.1 -1 reviewed p.T175A 1.000 17 0% 21 57.1% 87 51.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TPCN1 53373 genome.wustl.edu 37 12 113727975 113727975 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143819.1 +1 validated p.T685 0.000 101 0% 80 46.3% 20 40% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SDS 10993 genome.wustl.edu 37 12 113831740 113831740 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006843.2 -1 reviewed p.V245 0.000 24 0% 22 54.5% 0 - - - - HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu LHX5 64211 genome.wustl.edu 37 12 113906192 113906192 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022363.2 -1 reviewed p.R139C 1.000 21 0% 39 41% 0 - probably_damaging(0.965) tolerated(0.05) deleterious(0.752) NULL RBM19 9904 genome.wustl.edu 37 12 114383708 114383708 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016196.3 -1 reviewed p.L517 0.995 41 0% 47 10.6% 12 8.3% - - - NULL RBM19 9904 genome.wustl.edu 37 12 114384264 114384264 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016196.3 -1 reviewed p.V475G 0.455 48 0% 38 44.7% 15 60% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD TBX3 6926 genome.wustl.edu 37 12 115114128 115114128 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016569.3 -1 reviewed p.S363 0.054 58 0% 41 41.5% 7 85.7% - - - NULL FBXO21 23014 genome.wustl.edu 37 12 117627047 117627047 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033624.2 -1 reviewed p.R120 1.000 151 0% 124 41.9% 21 23.8% - - - superfamily_F-box domain NOS1 4842 genome.wustl.edu 37 12 117672461 117672461 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000620.2 -1 reviewed p.L1048 0.709 12 0% 13 61.5% 0 - - - - HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like NOS1 4842 genome.wustl.edu 37 12 117672548 117672548 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000620.2 -1 reviewed p.F1019 0.991 21 0.000 9 0.444 0 - - - - HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like KSR2 283455 genome.wustl.edu 37 12 118020137 118020137 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173598.4 -1 validated p.P371L 0.998 43 0% 29 51.7% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_Cysteine-rich domain VSIG10 54621 genome.wustl.edu 37 12 118517221 118517221 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019086.5 -1 validated p.G285 1.000 67 0% 52 13.5% 4 0% - - - superfamily_Immunoglobulin TAOK3 51347 genome.wustl.edu 37 12 118671522 118671522 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016281.3 -1 validated p.G200 0.906 292 0% 103 47.6% 6 33.3% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SUDS3 64426 genome.wustl.edu 37 12 118828932 118828932 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022491.2 +1 validated p.T121N 1.000 142 0% 78 38.5% 18 33.3% probably_damaging(0.959) deleterious(0.03) deleterious(0.767) HMMPfam_Sds3 SUDS3 64426 genome.wustl.edu 37 12 118841298 118841298 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022491.2 +1 validated p.G260D 1.000 63 0% 26 34.6% 28 42.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CCDC60 160777 genome.wustl.edu 37 12 119954454 119954454 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178499.3 +1 validated p.R304W 0.979 107 2.8% 44 52.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PRKAB1 5564 genome.wustl.edu 37 12 120106178 120106178 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006253.4 +1 reviewed p.D43 1.000 9 0.000 20 0.350 13 30.7% - - - NULL CIT 11113 genome.wustl.edu 37 12 120156569 120156569 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007174.1 -1 validated p.R1271H 1.000 48 2.1% 52 15.4% 5 0% possibly_damaging(0.707) tolerated(0.15) deleterious(0.496) NULL GCN1L1 10985 genome.wustl.edu 37 12 120584904 120584904 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006836.1 -1 validated p.K1633N 1.000 64 0% 51 39.2% 55 38.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat GCN1L1 10985 genome.wustl.edu 37 12 120594723 120594723 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006836.1 -1 validated p.R1054H 1.000 20 0% 14 57.1% 24 41.6% possibly_damaging(0.903) deleterious(0.02) deleterious(0.741) superfamily_ARM repeat GCN1L1 10985 genome.wustl.edu 37 12 120611576 120611576 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006836.1 -1 validated p.R416Q 0.997 72 0% 53 45.3% 18 27.7% possibly_damaging(0.782) tolerated(0.19) neutral(0.342) superfamily_ARM repeat GCN1L1 10985 genome.wustl.edu 37 12 120628113 120628113 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006836.1 -1 validated p.V37I 0.998 217 0% 112 33% 3 33.3% benign(0) tolerated(0.31) neutral(0.027) NULL RPLP0 6175 genome.wustl.edu 37 12 120637264 120637264 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002.3 -1 reviewed p.C27R 1.000 45 0% 39 48.7% 2309 50.3% possibly_damaging(0.609) deleterious(0) deleterious(0.655) HMMPfam_Ribosomal_L10 PXN 5829 genome.wustl.edu 37 12 120650200 120650200 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080855.1 -1 validated p.L565I 1.000 45 0% 49 32.7% 98 33.6% probably_damaging(0.982) deleterious(0.03) deleterious(0.791) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) POP5 51367 genome.wustl.edu 37 12 121017688 121017688 + Nonsense_Mutation SNP G G A rs151192790 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015918.3 -1 validated p.R68* 1.000 146 0% 94 43.6% 32 28.1% - - - HMMPfam_RNase_P_Rpp14 CABP1 9478 genome.wustl.edu 37 12 121099017 121099017 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033677.1 +1 reviewed p.F361 1.000 80 0% 43 20.9% 0 - - - - HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand P2RX4 5025 genome.wustl.edu 37 12 121670288 121670288 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002560.2 +1 reviewed p.F319C 1.000 18 0% 23 52.2% 29 24.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_P2X_receptor CAMKK2 10645 genome.wustl.edu 37 12 121691198 121691198 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006549.3 -1 reviewed p.A329T 0.999 140 0% 116 43.1% 19 31.5% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ANAPC5 51433 genome.wustl.edu 37 12 121746433 121746433 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016237.4 -1 reviewed p.C706 1.000 64 0% 28 60.7% 147 47.6% - - - superfamily_TPR-like ANAPC5 51433 genome.wustl.edu 37 12 121766228 121766228 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016237.4 -1 reviewed p.M399L 1.000 103 0% 78 42.3% 124 42.7% - - - superfamily_TPR-like TMEM120B 144404 genome.wustl.edu 37 12 122186262 122186262 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080825.2 +1 validated p.A73 0.091 8 0.000 18 0.444 18 66.6% - - - HMMPfam_TMPIT WDR66 144406 genome.wustl.edu 37 12 122395030 122395030 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144668.4 +1 validated p.T529I 0.002 225 0% 135 17.8% 2 50% benign(0.281) tolerated(0.18) neutral(0.142) superfamily_WD40 repeat-like WDR66 144406 genome.wustl.edu 37 12 122396269 122396269 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144668.4 +1 validated p.A608T 0.754 106 0% 83 10.8% 7 0% possibly_damaging(0.756) tolerated(0.09) deleterious(0.576) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KNTC1 9735 genome.wustl.edu 37 12 123075235 123075235 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014708.4 +1 reviewed p.L1361I 1.000 355 0% 232 45.7% 5 40% possibly_damaging(0.603) tolerated(0.16) neutral(0.268) NULL HCAR2 338442 genome.wustl.edu 37 12 123187642 123187642 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177551.3 -1 validated p.R63 0.999 77 0% 59 18.6% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 HCAR2 338442 genome.wustl.edu 37 12 123187643 123187643 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177551.3 -1 validated p.R63Q 0.998 75 0% 59 35.6% 1 0% probably_damaging(0.965) tolerated(0.1) deleterious(0.694) HMMPfam_7tm_1,superfamily_SSF81321 CCDC62 84660 genome.wustl.edu 37 12 123270314 123270314 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201435.3 +1 validated p.V149I 1.000 164 0% 103 48.5% 0 - possibly_damaging(0.465) tolerated(0.3) neutral(0.181) NULL CCDC62 84660 genome.wustl.edu 37 12 123276620 123276620 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201435.3 +1 validated p.R242C 1.000 150 0% 80 53.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HIP1R 9026 genome.wustl.edu 37 12 123333391 123333391 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003959.1 +1 validated p.D117Y 0.877 18 0% 19 47.4% 17 35.2% benign(0.359) deleterious(0.02) deleterious(0.497) superfamily_ENTH_VHS,HMMPfam_ANTH,HMMSmart_ENTH HIP1R 9026 genome.wustl.edu 37 12 123340438 123340438 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003959.1 +1 validated p.K372 1.000 29 0% 38 52.6% 36 47.2% - - - NULL ABCB9 23457 genome.wustl.edu 37 12 123424797 123424797 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019625.3 -1 reviewed p.T535M 1.000 15 0.000 7 0.714 12 25% probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB9 23457 genome.wustl.edu 37 12 123433338 123433338 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019625.3 -1 reviewed p.V296I 1.000 16 0% 17 41.2% 15 66.6% possibly_damaging(0.67) tolerated(0.28) neutral(0.269) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ARL6IP4 51329 genome.wustl.edu 37 12 123466037 123466037 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000392433 +1 known p.R225H 0.000 18 0% 10 50% 5 80% - - - HMMPfam_SR-25 SBNO1 55206 genome.wustl.edu 37 12 123829963 123829963 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018183.3 -1 validated p.R130H 0.998 546 0% 361 40.4% 12 33.3% possibly_damaging(0.742) tolerated(0.11) deleterious(0.544) NULL SNRNP35 11066 genome.wustl.edu 37 12 123950575 123950575 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_180699.2 +1 reviewed p.R168Q 0.966 27 0% 21 52.4% 26 46.1% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL RILPL1 353116 genome.wustl.edu 37 12 123983294 123983294 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178314.3 -1 validated p.R200W 0.994 24 0% 26 42.3% 26 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP6V0A2 23545 genome.wustl.edu 37 12 124209257 124209257 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012463.3 +1 reviewed p.K117N 1.000 198 0% 77 45.5% 10 50% possibly_damaging(0.762) tolerated(0.51) neutral(0.291) HMMPfam_V_ATPase_I ATP6V0A2 23545 genome.wustl.edu 37 12 124229211 124229211 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012463.3 +1 reviewed p.G465D 1.000 108 0% 70 50% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V_ATPase_I ATP6V0A2 23545 genome.wustl.edu 37 12 124233256 124233256 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012463.3 +1 reviewed p.A620V 1.000 344 0% 184 46.2% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_V_ATPase_I DNAH10 196385 genome.wustl.edu 37 12 124247079 124247079 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.E5K 1.000 17 0% 25 36% 5 80% unknown(0) - - NULL DNAH10 196385 genome.wustl.edu 37 12 124252191 124252191 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.E24* 0.324 277 0% 139 38.8% 0 - - - - NULL DNAH10 196385 genome.wustl.edu 37 12 124257389 124257389 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.A74 0.000 106 0% 63 47.6% 0 - - - - NULL DNAH10 196385 genome.wustl.edu 37 12 124285846 124285846 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.Q709H 0.096 134 0% 89 47.2% 0 - benign(0.003) tolerated(0.15) neutral(0.241) HMMPfam_DHC_N1 DNAH10 196385 genome.wustl.edu 37 12 124323053 124323053 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.A1533 0.993 75 0% 39 35.9% 0 - - - - HMMPfam_DHC_N2 DNAH10 196385 genome.wustl.edu 37 12 124323098 124323098 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.E1548D 1.000 108 0% 49 42.9% 0 - benign(0.033) tolerated(0.61) neutral(0.005) HMMPfam_DHC_N2 DNAH10 196385 genome.wustl.edu 37 12 124330326 124330326 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.P1729L 0.000 79 0% 73 49.3% 0 - benign(0.408) deleterious(0.01) deleterious(0.538) NULL DNAH10 196385 genome.wustl.edu 37 12 124352578 124352578 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.R2359 0.558 69 0% 50 48% 0 - - - - NULL DNAH10 196385 genome.wustl.edu 37 12 124358140 124358140 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.T2489 0.020 116 0% 52 50% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124377927 124377927 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.V2930A 1.000 36 0% 42 45.2% 0 - possibly_damaging(0.929) tolerated(0.06) deleterious(0.699) NULL DNAH10 196385 genome.wustl.edu 37 12 124382368 124382368 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.V2993A 0.989 125 0.8% 84 13.1% 0 - benign(0.091) deleterious(0.01) neutral(0.412) NULL DNAH10 196385 genome.wustl.edu 37 12 124409685 124409685 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.R3834H 1.000 248 0% 147 38.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy DNAH10 196385 genome.wustl.edu 37 12 124411191 124411191 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207437.3 +1 validated p.Q3859* 1.000 159 0% 137 57.7% 5 40% - - - HMMPfam_Dynein_heavy CCDC92 80212 genome.wustl.edu 37 12 124422150 124422150 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025140.1 -1 provisional p.R151W 1.000 95 0% 106 41.5% 29 44.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF664 144348 genome.wustl.edu 37 12 124496843 124496843 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152437.1 +1 provisional p.R51K 1.000 198 0% 82 40.2% 26 53.8% benign(0.025) tolerated(0.12) neutral(0.262) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SCARB1 949 genome.wustl.edu 37 12 125284671 125284671 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005505.4 -1 validated p.P376L 1.000 72 0% 49 46.9% 39 84.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CD36 SCARB1 949 genome.wustl.edu 37 12 125298796 125298796 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005505.4 -1 validated p.Y194* 0.611 59 1.7% 55 30.9% 27 14.8% - - - HMMPfam_CD36 SCARB1 949 genome.wustl.edu 37 12 125298947 125298947 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005505.4 -1 validated p.A144V 0.141 24 0% 38 28.9% 26 7.6% possibly_damaging(0.575) tolerated(0.14) neutral(0.447) HMMPfam_CD36 LOC100288312 100288312 genome.wustl.edu 37 12 125396863 125396863 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343222.1 +1 model p.L249F 1.000 284 0% 200 27.5% 2329 13.5% - - - NULL AACS 65985 genome.wustl.edu 37 12 125561100 125561100 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023928.3 +1 validated p.Y101H 1.000 118 0% 81 30.9% 24 58.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Acetyl-CoA synthetase-like TMEM132B 114795 genome.wustl.edu 37 12 126135254 126135254 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052907.2 +1 provisional p.D552Y 1.000 27 0% 23 26.1% 0 - benign(0.408) deleterious(0.02) deleterious(0.515) NULL TMEM132C 92293 genome.wustl.edu 37 12 129100821 129100821 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136103.2 +1 provisional p.A304T 0.021 66 0% 48 31.2% 0 - benign(0.001) tolerated(0.14) neutral(0.249) NULL TMEM132C 92293 genome.wustl.edu 37 12 129178397 129178397 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136103.2 +1 provisional p.I379 1.000 76 0% 31 74.2% 1 0% - - - NULL TMEM132C 92293 genome.wustl.edu 37 12 129180507 129180507 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136103.2 +1 provisional p.P484 0.044 26 0% 25 52% 0 - - - - NULL SLC15A4 121260 genome.wustl.edu 37 12 129278782 129278782 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145648.3 -1 validated p.R565* 0.958 122 0% 55 49.1% 19 47.3% - - - NULL SLC15A4 121260 genome.wustl.edu 37 12 129285463 129285463 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145648.3 -1 validated p.S450 0.001 123 0% 80 21.2% 14 14.2% - - - HMMPfam_PTR2,superfamily_MFS general substrate transporter GLT1D1 144423 genome.wustl.edu 37 12 129429901 129429901 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144669.1 +1 provisional p.A136T 0.062 124 0% 73 43.8% 0 - possibly_damaging(0.815) tolerated(0.57) neutral(0.314) superfamily_SSF53756 TMEM132D 121256 genome.wustl.edu 37 12 129558525 129558525 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133448.2 -1 validated p.I1065 0.000 183 0% 127 39.4% 0 - - - - NULL TMEM132D 121256 genome.wustl.edu 37 12 129559215 129559215 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133448.2 -1 validated p.G835 0.000 133 0% 111 42.3% 0 - - - - NULL TMEM132D 121256 genome.wustl.edu 37 12 130184915 130184915 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133448.2 -1 validated p.D136 0.000 90 0% 51 35.3% 0 - - - - NULL FZD10 11211 genome.wustl.edu 37 12 130648362 130648362 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007197.2 +1 reviewed p.R292Q 1.000 13 0% 26 19.2% 6 0% possibly_damaging(0.549) tolerated(0.26) neutral(0.221) HMMPfam_Frizzled PIWIL1 9271 genome.wustl.edu 37 12 130833783 130833783 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004764.3 +1 reviewed e7-1 1.000 194 0% 88 17% 0 - - - - - PIWIL1 9271 genome.wustl.edu 37 12 130847361 130847361 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004764.3 +1 reviewed p.G674E 1.000 219 0.5% 104 39.4% 0 - benign(0.364) tolerated(0.48) neutral(0.127) HMMPfam_Piwi,superfamily_Ribonuclease H-like RIMBP2 23504 genome.wustl.edu 37 12 130935764 130935764 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015347.4 -1 validated p.S143 1.000 17 0% 21 47.6% 0 - - - - NULL STX2 2054 genome.wustl.edu 37 12 131297503 131297503 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194356.1 -1 reviewed p.K93N 0.476 735 0.1% 324 42% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Syntaxin,HMMSmart_SM00503,superfamily_t-snare proteins GPR133 283383 genome.wustl.edu 37 12 131471825 131471825 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198827.3 +1 validated p.D226N 1.000 87 0% 63 50.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Concanavalin A-like lectins/glucanases SFSWAP 6433 genome.wustl.edu 37 12 132241120 132241120 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004592.2 +1 reviewed p.R551W 0.356 14 0% 12 41.7% 22 45.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SFSWAP 6433 genome.wustl.edu 37 12 132250770 132250770 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004592.2 +1 reviewed p.A687T 1.000 174 0% 93 36.6% 20 30% unknown(0) deleterious(0.01) - NULL PUS1 80324 genome.wustl.edu 37 12 132428117 132428117 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025215.5 +1 reviewed p.G424R 0.407 20 0% 28 42.9% 57 52.6% probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL EP400 57634 genome.wustl.edu 37 12 132446191 132446191 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015409.3 +1 validated p.G343R 0.284 123 0% 91 35.2% 6 33.3% unknown(0) - - NULL EP400 57634 genome.wustl.edu 37 12 132539724 132539724 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015409.3 +1 validated p.A2618T 0.988 18 0% 30 53.3% 8 62.5% probably_damaging(0.998) - - NULL EP400NL 347918 genome.wustl.edu 37 12 132589080 132589080 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000376625 +1 known p.S172I 1.000 21 0% 27 25.9% 4 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DDX51 317781 genome.wustl.edu 37 12 132626884 132626884 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175066.3 -1 validated p.L252I 1.000 14 0% 16 43.8% 15 46.6% benign(0.076) tolerated(1) neutral(0.005) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 NOC4L 79050 genome.wustl.edu 37 12 132635895 132635895 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024078.1 +1 provisional p.D352G 0.987 19 0% 24 50% 74 43.2% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_CBF GALNT9 50614 genome.wustl.edu 37 12 132839143 132839143 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000328957 -1 known p.A163V 1.000 11 0% 10 40% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases POLE 5426 genome.wustl.edu 37 12 133201524 133201524 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006231.2 -1 validated p.C2238 0.981 27 0% 26 61.5% 54 51.8% - - - NULL POLE 5426 genome.wustl.edu 37 12 133214643 133214643 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006231.2 -1 validated p.R1879C 0.962 52 1.9% 58 25.9% 42 38% possibly_damaging(0.936) tolerated(0.05) deleterious(0.727) HMMPfam_DUF1744 POLE 5426 genome.wustl.edu 37 12 133219469 133219469 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006231.2 -1 validated p.V1555 0.997 50 0% 46 50% 37 62.1% - - - HMMPfam_DUF1744 POLE 5426 genome.wustl.edu 37 12 133225574 133225574 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006231.2 -1 validated p.R1364C 1.000 16 0% 12 83.3% 39 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL POLE 5426 genome.wustl.edu 37 12 133238265 133238265 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006231.2 -1 validated p.G904 1.000 80 0% 50 26% 10 60% - - - HMMPfam_DNA_pol_B,superfamily_SSF56672 POLE 5426 genome.wustl.edu 37 12 133250289 133250289 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006231.2 -1 validated p.V411L 1.000 25 0% 20 60% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold ANKLE2 23141 genome.wustl.edu 37 12 133324765 133324765 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015114.1 -1 validated p.R334W 1.000 114 0% 75 12% 41 9.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat GOLGA3 2802 genome.wustl.edu 37 12 133372630 133372630 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005895.3 -1 reviewed p.G759 0.057 27 0% 22 27.3% 35 14.2% - - - NULL GOLGA3 2802 genome.wustl.edu 37 12 133385084 133385084 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005895.3 -1 reviewed p.L191I 1.000 76 2.6% 55 12.7% 26 23% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CHFR 55743 genome.wustl.edu 37 12 133425242 133425242 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018223.2 -1 validated p.L492M 1.000 14 0% 17 64.7% 19 52.6% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL ZNF10 7556 genome.wustl.edu 37 12 133732377 133732377 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015394.4 +1 reviewed p.R182I 0.003 181 0% 70 37.1% 3 33.3% possibly_damaging(0.449) tolerated(0.08) neutral(0.447) NULL ZNF268 10795 genome.wustl.edu 37 12 133758594 133758594 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003415.2 +1 validated p.R4M 0.038 126 0% 81 24.7% 3 0% possibly_damaging(0.776) - - NULL ZNF268 10795 genome.wustl.edu 37 12 133780453 133780453 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003415.2 +1 validated p.R727 0.001 122 0% 41 43.9% 10 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000187721 0 genome.wustl.edu 37 13 19600470 19600470 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000340284 -1 known p.D112N 0.970 35 0% 15 86.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTF2I TUBA3C 7278 genome.wustl.edu 37 13 19753621 19753621 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006001.1 -1 reviewed p.G29E 1.000 147 0% 103 45.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like TPTE2 93492 genome.wustl.edu 37 13 20024448 20024448 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199254.2 -1 validated p.R280M 1.000 479 0% 138 45.7% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_(Phosphotyrosine protein) phosphatases II TPTE2 93492 genome.wustl.edu 37 13 20048166 20048166 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199254.2 -1 validated p.D94N 0.004 171 0% 87 33.3% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Voltage-gated potassium channels PSPC1 55269 genome.wustl.edu 37 13 20304406 20304406 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042414.1 -1 validated p.E377D 0.978 245 0% 150 18% 107 27.1% benign(0.001) tolerated(0.07) neutral(0.319) NULL ZMYM5 9205 genome.wustl.edu 37 13 20398871 20398871 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142684.1 -1 validated p.D586Y 1.000 177 0% 90 47.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZMYM2 7750 genome.wustl.edu 37 13 20567420 20567420 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003453.2 +1 validated p.P70S 1.000 175 0% 96 45.8% 10 40% benign(0.003) tolerated(0.27) neutral(0.034) NULL ZMYM2 7750 genome.wustl.edu 37 13 20601372 20601372 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003453.2 +1 validated p.R589* 1.000 426 0% 209 45% 13 15.3% - - - HMMPfam_zf-FCS,HMMSmart_TRASH CRYL1 51084 genome.wustl.edu 37 13 20978842 20978842 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015974.2 -1 reviewed p.K260Q 0.962 160 0.6% 102 42.2% 32 53.1% benign(0.012) tolerated(0.3) neutral(0.029) HMMPfam_3HCDH,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like IFT88 8100 genome.wustl.edu 37 13 21172880 21172880 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175605.3 +1 reviewed p.F238L 1.000 262 0% 121 48.8% 11 27.2% possibly_damaging(0.468) deleterious(0.01) deleterious(0.559) HMMSmart_SM00028,superfamily_TPR-like N6AMT2 221143 genome.wustl.edu 37 13 21331636 21331636 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174928.1 -1 provisional p.G34 0.008 357 0.3% 221 41.6% 6 0% - - - NULL XPO4 64328 genome.wustl.edu 37 13 21374323 21374323 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022459.4 -1 validated p.L707F 1.000 165 0% 69 47.8% 10 40% probably_damaging(0.981) tolerated(0.39) neutral(0.442) superfamily_ARM-type_fold LATS2 26524 genome.wustl.edu 37 13 21555749 21555749 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014572.2 -1 reviewed p.L841F 1.000 18 0% 18 38.9% 7 57.1% benign(0.096) tolerated(0.76) neutral(0.008) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase LATS2 26524 genome.wustl.edu 37 13 21557528 21557528 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014572.2 -1 reviewed p.A773T 1.000 54 0% 50 42% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase LATS2 26524 genome.wustl.edu 37 13 21557768 21557768 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014572.2 -1 reviewed p.L693M 0.958 70 0% 45 11.1% 11 18.1% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase LATS2 26524 genome.wustl.edu 37 13 21562246 21562246 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014572.2 -1 reviewed p.R558H 0.979 95 0% 88 50% 8 25% benign(0) tolerated(0.2) neutral(0.049) NULL SACS 26278 genome.wustl.edu 37 13 23904403 23904403 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014363.4 -1 reviewed p.Y4538H 0.997 324 0% 139 46% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00748,superfamily_Nucleotidyltransferase substrate binding subunit/domain SACS 26278 genome.wustl.edu 37 13 23909298 23909298 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014363.4 -1 reviewed p.R2906Q 0.991 229 0% 93 44.1% 5 0% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) NULL SACS 26278 genome.wustl.edu 37 13 23912295 23912295 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014363.4 -1 reviewed p.R1907Q 0.958 292 0% 123 43.9% 3 33.3% benign(0.011) tolerated(0.39) neutral(0.017) NULL SACS 26278 genome.wustl.edu 37 13 23915259 23915259 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014363.4 -1 reviewed p.R919I 1.000 360 0% 135 43.7% 0 - benign(0.038) tolerated(0.11) neutral(0.274) NULL C1QTNF9B 387911 genome.wustl.edu 37 13 24468289 24468289 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007537.1 -1 provisional p.K73T 1.000 189 0% 156 41% 0 - possibly_damaging(0.919) tolerated(0.27) neutral(0.403) HMMPfam_Collagen C1QTNF9 338872 genome.wustl.edu 37 13 24893007 24893007 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178540.3 +1 validated p.K73T 1.000 709 0.1% 476 15.1% 0 - probably_damaging(0.961) tolerated(0.15) deleterious(0.645) HMMPfam_Collagen PARP4 143 genome.wustl.edu 37 13 25005580 25005580 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006437.3 -1 reviewed p.L1594R 0.026 385 0% 138 21% 13 23% possibly_damaging(0.688) tolerated(0.85) neutral(0.246) NULL PARP4 143 genome.wustl.edu 37 13 25027741 25027741 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006437.3 -1 reviewed p.A937V 0.000 199 0% 118 44.1% 24 33.3% benign(0.035) deleterious(0.04) neutral(0.351) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 PARP4 143 genome.wustl.edu 37 13 25030506 25030506 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006437.3 -1 reviewed p.V845 0.922 139 0% 89 39.3% 30 50% - - - NULL ATP12A 479 genome.wustl.edu 37 13 25266591 25266591 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001676.5 +1 reviewed p.R365W 1.000 24 0% 29 34.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M ATP12A 479 genome.wustl.edu 37 13 25274961 25274961 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001676.5 +1 reviewed p.P594 0.963 250 0% 121 43% 8 87.5% - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M RNF17 56163 genome.wustl.edu 37 13 25378532 25378532 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031277.2 +1 reviewed p.H686Y 1.000 422 0% 144 39.6% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_TUDOR CENPJ 55835 genome.wustl.edu 37 13 25457411 25457411 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018451.3 -1 reviewed p.T1307 0.995 392 0.3% 192 40.6% 31 41.9% - - - HMMPfam_Tcp10_C CENPJ 55835 genome.wustl.edu 37 13 25480926 25480926 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018451.3 -1 reviewed p.R417I 0.554 302 0% 146 22.6% 1 100% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL CENPJ 55835 genome.wustl.edu 37 13 25484020 25484020 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018451.3 -1 reviewed p.R258H 0.164 171 0% 95 31.6% 4 75% benign(0.22) tolerated(0.5) neutral(0.032) NULL MTMR6 9107 genome.wustl.edu 37 13 25831890 25831890 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004685.3 -1 validated p.A318V 1.000 184 0% 64 34.4% 14 50% possibly_damaging(0.795) tolerated(0.16) neutral(0.358) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II NUPL1 9818 genome.wustl.edu 37 13 25883397 25883397 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014089.3 +1 reviewed p.T88I 1.000 507 0% 191 37.7% 11 0% possibly_damaging(0.45) deleterious(0.04) deleterious(0.496) NULL NUPL1 9818 genome.wustl.edu 37 13 25901075 25901075 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014089.3 +1 reviewed p.Q351 1.000 197 0% 84 16.7% 21 9.5% - - - NULL ATP8A2 51761 genome.wustl.edu 37 13 26151236 26151236 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016529.4 +1 validated p.R581Q 1.000 217 0.5% 70 31.4% 0 - possibly_damaging(0.902) deleterious(0.05) deleterious(0.702) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N GPR12 2835 genome.wustl.edu 37 13 27333387 27333387 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005288.3 -1 validated p.P193L 1.000 17 0% 21 47.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR12 2835 genome.wustl.edu 37 13 27333601 27333601 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005288.3 -1 validated p.A122T 1.000 38 0% 23 21.7% 0 - benign(0.017) tolerated(0.15) neutral(0.241) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like USP12 219333 genome.wustl.edu 37 13 27645275 27645275 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182488.2 -1 provisional p.R315Q 1.000 208 0% 110 48.2% 8 37.5% possibly_damaging(0.85) tolerated(0.09) deleterious(0.623) HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_SSF54001 GTF3A 2971 genome.wustl.edu 37 13 28006937 28006937 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002097.2 +1 reviewed p.H186 0.312 37 0% 36 47.2% 131 41.9% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LNX2 222484 genome.wustl.edu 37 13 28155465 28155465 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153371.3 -1 validated p.R126C 0.996 78 0% 45 51.1% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FLT3 2322 genome.wustl.edu 37 13 28578214 28578214 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004119.2 -1 reviewed p.P986L 0.020 107 0% 60 18.3% 0 - possibly_damaging(0.889) deleterious(0) deleterious(0.794) NULL FLT3 2322 genome.wustl.edu 37 13 28626755 28626755 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004119.2 -1 reviewed p.A181T 0.237 291 0.7% 150 42% 0 - benign(0.366) tolerated(0.7) neutral(0.119) NULL FLT1 2321 genome.wustl.edu 37 13 28919630 28919630 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002019.4 -1 reviewed p.A769 0.317 147 0% 67 58.2% 1 0% - - - NULL FLT1 2321 genome.wustl.edu 37 13 28919631 28919631 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002019.4 -1 reviewed p.A769V 1.000 145 0% 66 31.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC46A3 283537 genome.wustl.edu 37 13 29287604 29287604 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135919.1 -1 validated p.L91 0.130 86 0% 54 51.9% 2 0% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC46A3 283537 genome.wustl.edu 37 13 29292047 29292047 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135919.1 -1 validated p.R30Q 0.856 295 0% 172 33.7% 1 0% possibly_damaging(0.834) tolerated(0.31) neutral(0.345) HMMPfam_MFS_1 MTUS2 23281 genome.wustl.edu 37 13 29598882 29598882 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033602.2 +1 validated p.R26Q 0.034 32 0% 22 50% 0 - benign(0.26) tolerated(0.36) neutral(0.047) NULL MTUS2 23281 genome.wustl.edu 37 13 29600115 29600115 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033602.2 +1 validated p.S437F 0.002 66 0% 35 48.6% 0 - probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL SLC7A1 6541 genome.wustl.edu 37 13 30098269 30098269 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003045.4 -1 validated p.G276S 1.000 11 0% 10 60% 70 54.2% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_AA_permease HMGB1 3146 genome.wustl.edu 37 13 31037387 31037387 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002128.4 -1 validated p.T85A 1.000 302 0% 183 12% 455 17.5% benign(0.005) tolerated(0.39) neutral(0.016) NULL HSPH1 10808 genome.wustl.edu 37 13 31726972 31726972 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000439123 -1 known p.F79 0.000 151 0% 52 44.2% 4 25% - - - NULL HSPH1 10808 genome.wustl.edu 37 13 31727058 31727058 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006644.2 -1 validated p.R154* 1.000 123 0% 53 13.2% 34 8.8% - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain B3GALTL 145173 genome.wustl.edu 37 13 31897937 31897937 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194318.3 +1 reviewed p.R412* 0.841 112 0% 59 55.9% 9 22.2% - - - HMMPfam_Fringe RXFP2 122042 genome.wustl.edu 37 13 32366825 32366825 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130806.3 +1 reviewed p.C462 1.000 138 0% 72 44.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RXFP2 122042 genome.wustl.edu 37 13 32367033 32367033 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130806.3 +1 reviewed p.R532* 0.997 120 0% 71 33.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FRY 10129 genome.wustl.edu 37 13 32759149 32759149 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023037.2 +1 validated p.L1061 0.786 171 0.6% 96 42.7% 0 - - - - NULL FRY 10129 genome.wustl.edu 37 13 32813884 32813884 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023037.2 +1 validated p.L2185I 1.000 71 0% 34 47.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRY 10129 genome.wustl.edu 37 13 32836460 32836460 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023037.2 +1 validated p.L2543F 0.999 134 0% 72 45.8% 2 100% possibly_damaging(0.948) tolerated(0.31) neutral(0.418) NULL ZAR1L 646799 genome.wustl.edu 37 13 32885904 32885904 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136571.1 -1 reviewed p.A53 0.000 9 0.000 14 0.500 0 - - - - NULL BRCA2 675 genome.wustl.edu 37 13 32912067 32912067 + Missense_Mutation SNP T T G rs80358606 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000059.3 +1 reviewed p.F1192C 0.000 155 0% 53 35.8% 2 50% probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL BRCA2 675 genome.wustl.edu 37 13 32913732 32913732 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000059.3 +1 reviewed p.N1747S 0.402 127 0% 47 46.8% 3 33.3% probably_damaging(0.989) tolerated(0.19) deleterious(0.489) NULL BRCA2 675 genome.wustl.edu 37 13 32929304 32929304 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000059.3 +1 reviewed p.D2438 0.000 146 0% 73 42.5% 0 - - - - NULL BRCA2 675 genome.wustl.edu 37 13 32937470 32937470 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000059.3 +1 reviewed p.A2711T 0.001 270 0% 98 37.8% 2 0% benign(0.153) tolerated(0.56) neutral(0.020) HMMPfam_BRCA-2_OB1,superfamily_Nucleic_acid_OB BRCA2 675 genome.wustl.edu 37 13 32945129 32945129 + Missense_Mutation SNP C C T rs80359104 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000059.3 +1 reviewed p.R2842C 1.000 202 0% 76 35.5% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tower,superfamily_Nucleic_acid_OB,superfamily_SSF81878 BRCA2 675 genome.wustl.edu 37 13 32972391 32972391 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000059.3 +1 reviewed p.Q3247H 0.185 252 0% 114 36.8% 2 100% possibly_damaging(0.923) tolerated(0.14) deleterious(0.622) NULL N4BP2L2 10443 genome.wustl.edu 37 13 33017158 33017158 + Missense_Mutation SNP G G A rs17077569 byCluster;byFrequency;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033111.3 -1 validated p.R506C 0.000 699 0.3% 346 52% 2 0% benign(0.016) tolerated(0.13) neutral(0.253) NULL N4BP2L2 10443 genome.wustl.edu 37 13 33017924 33017924 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033111.3 -1 validated p.K250N 0.000 348 0% 174 41.4% 4 50% possibly_damaging(0.895) deleterious(0) deleterious(0.797) NULL N4BP2L2 10443 genome.wustl.edu 37 13 33111043 33111043 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014887.2 -1 validated p.A41V 0.000 232 0% 146 47.9% 16 43.7% possibly_damaging(0.49) tolerated(0.07) deleterious(0.482) NULL PDS5B 23047 genome.wustl.edu 37 13 33327533 33327533 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015032.3 +1 reviewed p.R934W 1.000 246 0% 124 47.6% 12 58.3% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) superfamily_ARM repeat STARD13 90627 genome.wustl.edu 37 13 33679773 33679773 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178006.3 -1 validated p.S1100Y 1.000 93 1.1% 59 55.9% 11 36.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_START,HMMSmart_SM00234 STARD13 90627 genome.wustl.edu 37 13 33684878 33684878 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178006.3 -1 validated p.F925Y 1.000 161 0% 90 47.8% 6 66.6% benign(0.316) tolerated(0.22) neutral(0.141) HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like STARD13 90627 genome.wustl.edu 37 13 33701540 33701540 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178006.3 -1 validated p.H631R 1.000 18 0% 15 53.3% 6 16.6% benign(0.052) deleterious(0) neutral(0.448) NULL STARD13 90627 genome.wustl.edu 37 13 33703314 33703314 + Silent SNP G G A rs192691086 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178006.3 -1 validated p.V500 0.871 82 0% 81 44.4% 5 0% - - - NULL NBEA 26960 genome.wustl.edu 37 13 35733340 35733340 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015678.4 +1 validated p.S1011I 1.000 139 0% 61 47.5% 4 75% benign(0.004) tolerated(0.19) neutral(0.050) superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 35770406 35770406 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015678.4 +1 validated p.A1778D 0.987 114 0% 45 42.2% 3 33.3% possibly_damaging(0.748) tolerated(0.19) neutral(0.324) superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 35785283 35785283 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015678.4 +1 validated p.A1872V 1.000 209 0% 60 46.7% 3 100% possibly_damaging(0.455) tolerated(0.26) neutral(0.183) superfamily_ARM repeat MAB21L1 4081 genome.wustl.edu 37 13 36049406 36049406 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005584.4 -1 reviewed p.D290 1.000 56 0% 71 43.7% 1 100% - - - HMMPfam_Mab-21 NBEA 26960 genome.wustl.edu 37 13 36229024 36229024 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015678.4 +1 validated p.T2669A 1.000 225 0% 106 47.2% 10 70% benign(0.02) tolerated(0.06) neutral(0.324) HMMSmart_SM00320,superfamily_WD40 repeat-like NBEA 26960 genome.wustl.edu 37 13 36229853 36229853 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015678.4 +1 validated p.R2756W 0.968 106 0% 82 42.7% 11 72.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_WD40 repeat-like SOHLH2 54937 genome.wustl.edu 37 13 36764166 36764166 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017826.2 -1 validated p.G186 0.020 464 0% 152 39.5% 0 - - - - NULL CCNA1 8900 genome.wustl.edu 37 13 37014167 37014167 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003914.3 +1 reviewed p.T315 0.000 194 0% 78 39.7% 23 30.4% - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like FAM48A 55578 genome.wustl.edu 37 13 37596174 37596174 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000469488 -1 known p.T100I 1.000 157 0% 52 51.9% 45 48.8% - - - NULL CSNK1A1L 122011 genome.wustl.edu 37 13 37678626 37678626 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145203.5 -1 validated p.F256 1.000 254 0% 225 45.3% 0 - - - - superfamily_Kinase_like POSTN 10631 genome.wustl.edu 37 13 38164595 38164595 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006475.2 -1 validated p.A119T 0.999 182 0% 116 46.6% 16 6.2% benign(0.001) tolerated(0.45) neutral(0.012) HMMPfam_Fasciclin,superfamily_FAS1 domain TRPC4 7223 genome.wustl.edu 37 13 38225514 38225514 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003306.1 -1 validated p.P656L 1.000 315 0% 150 44.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPC4 7223 genome.wustl.edu 37 13 38266310 38266310 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003306.1 -1 validated p.P354S 1.000 160 0% 123 40.7% 1 0% benign(0) tolerated(0.5) neutral(0.010) NULL FREM2 341640 genome.wustl.edu 37 13 39425912 39425912 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207361.4 +1 reviewed p.R2278C 1.000 105 1% 57 26.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Calx-beta,HMMSmart_SM00237 FREM2 341640 genome.wustl.edu 37 13 39438677 39438677 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207361.4 +1 reviewed p.F2639 1.000 109 0% 71 57.7% 5 100% - - - NULL STOML3 161003 genome.wustl.edu 37 13 39544411 39544411 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145286.2 -1 validated p.L143M 1.000 83 0% 42 40.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Band_7,HMMSmart_PHB PROSER1 80209 genome.wustl.edu 37 13 39586248 39586248 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025138.3 -1 validated p.A895V 1.000 122 0% 69 52.2% 42 47.6% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL PROSER1 80209 genome.wustl.edu 37 13 39591666 39591666 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025138.3 -1 validated p.S249L 0.998 385 0% 111 36% 33 39.3% possibly_damaging(0.454) deleterious(0) deleterious(0.593) NULL COG6 57511 genome.wustl.edu 37 13 40298669 40298669 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020751.2 +1 reviewed p.L573I 0.981 209 0% 64 39.1% 44 50% possibly_damaging(0.454) tolerated(0.76) neutral(0.149) HMMPfam_COG6 SLC25A15 10166 genome.wustl.edu 37 13 41382629 41382629 + Silent SNP G G A rs183697658 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014252.3 +1 reviewed p.A226 0.950 351 0% 196 12.8% 8 0% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr WBP4 11193 genome.wustl.edu 37 13 41650291 41650291 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007187.3 +1 reviewed p.S225L 0.984 163 0% 86 44.2% 16 18.7% possibly_damaging(0.821) tolerated(0.07) deleterious(0.629) NULL KBTBD7 84078 genome.wustl.edu 37 13 41767917 41767917 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032138.4 -1 provisional p.A159 1.000 44 0% 42 47.6% 21 47.6% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB KIAA0564 23078 genome.wustl.edu 37 13 42161751 42161751 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015058.1 -1 validated p.G1723D 1.000 71 0% 51 49% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00327,superfamily_vWA-like AKAP11 11215 genome.wustl.edu 37 13 42876971 42876971 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016248.2 +1 reviewed p.I1363 1.000 131 0% 61 45.9% 6 50% - - - NULL EPSTI1 94240 genome.wustl.edu 37 13 43474496 43474496 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002264.1 -1 validated p.R266 0.001 565 0% 255 47.1% 5 0% - - - NULL CCDC122 160857 genome.wustl.edu 37 13 44443504 44443504 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144974.3 -1 validated p.D3E 0.011 864 0% 270 36.3% 1 100% benign(0.001) deleterious(0.01) neutral(0.406) NULL LACC1 144811 genome.wustl.edu 37 13 44455495 44455495 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128303.1 +1 validated p.D125V 1.000 310 0% 165 41.2% 0 - benign(0.167) deleterious(0.02) neutral(0.398) NULL FAM194B 220081 genome.wustl.edu 37 13 46154761 46154761 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182542.2 -1 predicted p.T299I 0.000 586 0% 312 38.5% 0 - possibly_damaging(0.733) tolerated(0.21) neutral(0.312) NULL SIAH3 283514 genome.wustl.edu 37 13 46357723 46357723 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198849.2 -1 validated p.R202H 1.000 15 0% 21 57.1% 0 - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) superfamily_Traf_like,HMMPfam_Sina ZC3H13 23091 genome.wustl.edu 37 13 46542960 46542960 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015070.3 -1 validated p.S1240I 0.969 276 0% 97 41.2% 16 56.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ZC3H13 23091 genome.wustl.edu 37 13 46563203 46563203 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015070.3 -1 validated p.S325F 1.000 283 0% 117 42.7% 25 52% unknown(0) deleterious(0.01) - NULL CPB2 1361 genome.wustl.edu 37 13 46629969 46629969 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001872.3 -1 reviewed p.E339* 0.997 176 0% 87 46% 0 - - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases NUDT15 55270 genome.wustl.edu 37 13 48619867 48619867 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018283.1 +1 provisional p.E143* 1.000 261 0.4% 95 47.4% 5 20% - - - HMMPfam_NUDIX,superfamily_Nudix ITM2B 9445 genome.wustl.edu 37 13 48830448 48830448 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021999.4 +1 reviewed p.E128K 1.000 180 0% 105 47.6% 352 35.7% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL RB1 5925 genome.wustl.edu 37 13 48919278 48919278 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000321.2 +1 reviewed p.M148T 1.000 487 0% 173 11% 14 0% benign(0.003) tolerated(0.35) neutral(0.021) NULL RB1 5925 genome.wustl.edu 37 13 48954342 48954342 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000321.2 +1 reviewed p.A488V 1.000 192 0% 139 43.9% 15 46.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RB_A,superfamily_Cyclin-like RB1 5925 genome.wustl.edu 37 13 49037929 49037929 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000321.2 +1 reviewed p.I723 0.986 251 0% 116 37.9% 24 45.8% - - - HMMPfam_RB_B,HMMSmart_SM00385,superfamily_Cyclin-like RCBTB2 1102 genome.wustl.edu 37 13 49096035 49096035 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001268.2 -1 reviewed p.K14R 1.000 131 0% 68 51.5% 0 - benign(0.02) tolerated(0.3) neutral(0.030) NULL FNDC3A 22862 genome.wustl.edu 37 13 49781280 49781280 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079673.1 +1 validated p.F1116V 1.000 123 0% 77 49.4% 41 51.2% benign(0.008) tolerated(0.33) neutral(0.024) HMMSmart_SM00060,superfamily_Fibronectin type III SETDB2 83852 genome.wustl.edu 37 13 50042039 50042039 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031915.2 +1 validated p.S95F 0.006 312 0% 104 43.3% 3 66.6% probably_damaging(0.98) tolerated(0.1) deleterious(0.710) NULL SETDB2 83852 genome.wustl.edu 37 13 50050914 50050914 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031915.2 +1 validated p.N215T 1.000 165 0% 79 49.4% 6 33.3% probably_damaging(0.995) tolerated(0.28) deleterious(0.489) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain SETDB2 83852 genome.wustl.edu 37 13 50050947 50050947 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031915.2 +1 validated p.T226N 1.000 198 0% 87 11.5% 5 0% probably_damaging(1) tolerated(0.31) deleterious(0.527) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain PHF11 51131 genome.wustl.edu 37 13 50102647 50102647 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000426879 +1 known p.Q236* 0.071 140 0% 73 43.8% 10 20% benign(0.01) tolerated(0.75) neutral(0.002) NULL RCBTB1 55213 genome.wustl.edu 37 13 50123608 50123608 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018191.3 -1 reviewed p.R344H 1.000 28 0% 26 26.9% 13 53.8% benign(0.149) tolerated(0.24) neutral(0.050) NULL RCBTB1 55213 genome.wustl.edu 37 13 50129671 50129671 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018191.3 -1 reviewed p.A195S 1.000 190 0% 113 41.6% 13 61.5% probably_damaging(0.968) deleterious(0.03) deleterious(0.774) superfamily_RCC1/BLIP-II KCNRG 283518 genome.wustl.edu 37 13 50589840 50589840 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173605.1 +1 validated p.L71V 0.784 300 0% 116 48.3% 1 0% benign(0.051) tolerated(0.6) neutral(0.007) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain GUCY1B2 2974 genome.wustl.edu 37 13 51591063 51591063 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000389600 -1 known p.A329T 0.029 136 0.7% 72 37.5% 0 - - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase SERPINE3 647174 genome.wustl.edu 37 13 51935993 51935993 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101320.1 +1 validated p.R379W 1.000 263 1.1% 69 53.6% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN,superfamily_Serpins WDFY2 115825 genome.wustl.edu 37 13 52313269 52313269 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052950.3 +1 reviewed p.I228T 1.000 102 0% 51 41.2% 8 50% possibly_damaging(0.83) deleterious(0) deleterious(0.760) superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1 ATP7B 540 genome.wustl.edu 37 13 52548680 52548680 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000053.2 -1 reviewed p.R226W 0.063 49 0% 30 33.3% 10 40% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL NEK5 341676 genome.wustl.edu 37 13 52661584 52661584 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199289.1 -1 provisional p.R428C 0.999 291 0.3% 178 42.7% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEK3 4752 genome.wustl.edu 37 13 52707938 52707938 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000258597 -1 known p.F442L 0.961 73 0% 41 36.6% 5 40% benign(0.271) tolerated(0.14) neutral(0.279) NULL NEK3 4752 genome.wustl.edu 37 13 52710259 52710259 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000452082 -1 known p.R185* 0.001 252 0.4% 130 45.4% 10 40% - - - NULL THSD1 55901 genome.wustl.edu 37 13 52952397 52952397 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018676.3 -1 reviewed p.A570T 0.000 20 0% 19 47.4% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL THSD1 55901 genome.wustl.edu 37 13 52952547 52952547 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018676.3 -1 reviewed p.A520T 0.736 31 0% 25 40% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL VPS36 51028 genome.wustl.edu 37 13 53000136 53000136 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016075.2 -1 validated p.Y235 0.968 247 0% 142 44.4% 14 42.8% - - - "HMMPfam_EAP30,superfamily_""Winged helix"" DNA-binding domain" PCDH17 27253 genome.wustl.edu 37 13 58209061 58209061 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040429.2 +1 reviewed p.S794Y 1.000 19 0% 32 43.8% 4 0% probably_damaging(0.99) tolerated(0.1) deleterious(0.728) NULL PCDH17 27253 genome.wustl.edu 37 13 58298910 58298910 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040429.2 +1 reviewed p.E988K 1.000 190 0% 82 40.2% 1 0% probably_damaging(0.965) tolerated(0.08) deleterious(0.707) NULL DIAPH3 81624 genome.wustl.edu 37 13 60348872 60348872 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042517.1 -1 validated p.P1083 0.441 102 0% 54 42.6% 15 46.6% - - - NULL DIAPH3 81624 genome.wustl.edu 37 13 60407354 60407354 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042517.1 -1 validated p.E972K 1.000 433 0.2% 80 46.3% 16 50% benign(0.003) tolerated(0.9) - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) PCDH20 64881 genome.wustl.edu 37 13 61987036 61987036 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022843.3 -1 validated p.L399R 1.000 98 0% 62 56.5% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CA,superfamily_Cadherin PCDH9 5101 genome.wustl.edu 37 13 66878839 66878839 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203487.2 -1 reviewed p.S1221Y 1.000 166 0% 43 58.1% 0 - benign(0.223) deleterious(0.02) neutral(0.405) NULL PCDH9 5101 genome.wustl.edu 37 13 67205533 67205533 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203487.2 -1 reviewed p.R1050H 1.000 47 0% 13 53.8% 0 - benign(0.058) deleterious(0) neutral(0.448) NULL PCDH9 5101 genome.wustl.edu 37 13 67800835 67800835 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203487.2 -1 reviewed p.F580V 1.000 113 0% 62 38.7% 1 0% possibly_damaging(0.804) deleterious(0.05) deleterious(0.648) HMMPfam_Cadherin,superfamily_Cadherin-like PCDH9 5101 genome.wustl.edu 37 13 67801427 67801427 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203487.2 -1 reviewed p.K382 1.000 200 0% 104 42.3% 3 0% - - - HMMPfam_Cadherin,superfamily_Cadherin-like KLHL1 57626 genome.wustl.edu 37 13 70370969 70370969 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020866.2 -1 validated p.R514* 1.000 243 0% 113 40.7% 0 - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL1 57626 genome.wustl.edu 37 13 70681446 70681446 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020866.2 -1 validated p.V129A 0.995 20 0% 16 37.5% 0 - benign(0.003) tolerated(0.61) neutral(0.004) NULL DACH1 1602 genome.wustl.edu 37 13 72063207 72063207 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080759.4 -1 reviewed p.P548 0.998 105 0% 39 33.3% 2 50% - - - NULL DACH1 1602 genome.wustl.edu 37 13 72147081 72147081 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080759.4 -1 reviewed p.S397Y 1.000 160 0% 59 11.9% 4 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DIS3 22894 genome.wustl.edu 37 13 73351615 73351615 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014953.3 -1 validated p.K199 1.000 486 0.2% 214 42.1% 18 50% - - - superfamily_PIN domain-like KLF12 11278 genome.wustl.edu 37 13 74420289 74420289 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007249.4 -1 validated p.T115 1.000 154 0% 78 44.9% 4 75% - - - NULL TBC1D4 9882 genome.wustl.edu 37 13 75898521 75898521 + Nonsense_Mutation SNP G G A rs61736969 byCluster;byFrequency;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014832.2 -1 validated p.R684* 0.991 244 0% 146 42.5% 0 - - - - NULL TBC1D4 9882 genome.wustl.edu 37 13 75915349 75915349 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014832.2 -1 validated p.Q508R 1.000 135 0% 79 44.3% 6 66.6% benign(0.004) deleterious(0.01) neutral(0.406) NULL TBC1D4 9882 genome.wustl.edu 37 13 75936237 75936237 + Silent SNP C C T rs145011623 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014832.2 -1 validated p.P335 0.031 16 0% 19 36.8% 12 50% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like LMO7 4008 genome.wustl.edu 37 13 76370831 76370831 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005358.5 +1 reviewed p.G188 0.997 261 0% 98 14.3% 11 27.2% - - - superfamily_Calponin-homology LMO7 4008 genome.wustl.edu 37 13 76397787 76397787 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000447038 +1 known p.G585R 0.000 57 0% 42 47.6% 28 28.5% - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77662983 77662983 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015057.4 -1 validated p.R3532Q 1.000 185 0% 56 37.5% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MYCBP2 23077 genome.wustl.edu 37 13 77730338 77730338 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015057.4 -1 validated e46-1 1.000 162 0% 82 42.7% 0 - - - - - MYCBP2 23077 genome.wustl.edu 37 13 77740507 77740507 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015057.4 -1 validated p.F2061L 1.000 196 0% 101 36.6% 2 0% possibly_damaging(0.891) tolerated(0.17) neutral(0.409) NULL EDNRB 1910 genome.wustl.edu 37 13 78474023 78474023 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000115.2 -1 reviewed p.V389M 1.000 274 0% 45 42.2% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) superfamily_Family A G protein-coupled receptor-like EDNRB 1910 genome.wustl.edu 37 13 78492427 78492427 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000115.2 -1 reviewed p.I94 0.074 63 0% 45 46.7% 2 0% - - - superfamily_Family A G protein-coupled receptor-like RNF219 79596 genome.wustl.edu 37 13 79189919 79189919 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024546.3 -1 validated p.S659 0.910 153 0% 52 44.2% 7 71.4% - - - NULL RNF219 79596 genome.wustl.edu 37 13 79189972 79189972 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024546.3 -1 validated p.P642S 0.819 103 1% 46 52.2% 4 25% possibly_damaging(0.586) tolerated(0.07) deleterious(0.521) NULL RBM26 64062 genome.wustl.edu 37 13 79911257 79911257 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022118.3 -1 validated p.D878Y 1.000 121 0% 61 41% 43 34.8% benign(0.195) deleterious(0) neutral(0.463) superfamily_SSF54928 RBM26 64062 genome.wustl.edu 37 13 79933756 79933756 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022118.3 -1 validated p.G495S 1.000 456 0% 154 46.1% 10 40% probably_damaging(0.998) tolerated(0.5) deleterious(0.484) NULL RBM26 64062 genome.wustl.edu 37 13 79939715 79939715 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022118.3 -1 validated p.R472I 1.000 267 0% 133 49.6% 13 76.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RBM26 64062 genome.wustl.edu 37 13 79945256 79945256 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022118.3 -1 validated p.R153I 1.000 231 0% 101 37.6% 8 50% unknown(0) deleterious(0) - NULL NDFIP2 54602 genome.wustl.edu 37 13 80107533 80107533 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019080.2 +1 validated p.E188A 1.000 162 0% 53 43.4% 11 45.4% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DUF2370 SLITRK1 114798 genome.wustl.edu 37 13 84454666 84454666 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052910.1 -1 reviewed p.A326V 0.842 88 0% 80 46.3% 0 - benign(0.005) tolerated(0.39) neutral(0.016) NULL SLITRK1 114798 genome.wustl.edu 37 13 84455428 84455428 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052910.1 -1 reviewed p.R72Q 1.000 97 0% 69 39.1% 0 - possibly_damaging(0.71) tolerated(0.22) neutral(0.298) superfamily_SSF52058 SLITRK1 114798 genome.wustl.edu 37 13 84455562 84455562 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052910.1 -1 reviewed p.K27N 1.000 92 0% 69 44.9% 0 - benign(0.003) tolerated(0.62) neutral(0.004) NULL SLITRK6 84189 genome.wustl.edu 37 13 86368840 86368840 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032229.2 -1 validated p.T602A 0.998 260 0% 69 50.7% 6 66.6% benign(0.004) tolerated(0.93) - NULL SLITRK6 84189 genome.wustl.edu 37 13 86370210 86370210 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032229.2 -1 validated p.N145T 1.000 235 0% 45 48.9% 5 40% benign(0.004) deleterious(0.03) neutral(0.364) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like GPC5 2262 genome.wustl.edu 37 13 92345670 92345670 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004466.4 +1 reviewed p.D185 0.998 224 0% 76 44.7% 0 - - - - HMMPfam_Glypican ABCC4 10257 genome.wustl.edu 37 13 95724074 95724074 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005845.3 -1 reviewed p.D1018Y 0.993 150 0% 90 44.4% 21 38% probably_damaging(0.971) deleterious(0) deleterious(0.857) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC4 10257 genome.wustl.edu 37 13 95726537 95726537 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005845.3 -1 reviewed p.V950I 0.995 92 0% 44 45.5% 34 52.9% possibly_damaging(0.796) tolerated(0.09) deleterious(0.595) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC4 10257 genome.wustl.edu 37 13 95829990 95829990 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005845.3 -1 reviewed p.D566 1.000 112 0% 64 29.7% 18 27.7% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC4 10257 genome.wustl.edu 37 13 95840721 95840721 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005845.3 -1 reviewed p.V447M 1.000 131 0% 87 16.1% 15 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases DZIP1 22873 genome.wustl.edu 37 13 96274644 96274644 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198968.2 -1 validated p.P355S 0.299 430 0% 173 45.7% 13 53.8% benign(0.021) tolerated(0.15) neutral(0.242) NULL DNAJC3 5611 genome.wustl.edu 37 13 96439348 96439348 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006260.3 +1 reviewed p.K432N 1.000 172 0% 83 43.4% 20 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain UGGT2 55757 genome.wustl.edu 37 13 96579309 96579309 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020121.3 -1 validated p.K725Q 0.932 321 0% 144 45.1% 0 - benign(0.174) tolerated(0.17) neutral(0.075) NULL UGGT2 55757 genome.wustl.edu 37 13 96675300 96675300 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020121.3 -1 validated p.A160V 0.981 356 0% 152 35.5% 8 12.5% benign(0.001) tolerated(0.32) neutral(0.024) NULL MBNL2 10150 genome.wustl.edu 37 13 98009078 98009078 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000376679 +1 known p.R11Q 1.000 14 0% 11 45.5% 5 20% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL LOC121906 121906 genome.wustl.edu 37 13 98128417 98128417 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344083.1 +1 model p.F188S 1.000 98 0% 27 55.6% 0 - - - - HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) FARP1 10160 genome.wustl.edu 37 13 99099047 99099047 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005766.2 +1 reviewed p.A1011V 1.000 59 0% 51 39.2% 100 38% possibly_damaging(0.72) deleterious(0) deleterious(0.706) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like STK24 8428 genome.wustl.edu 37 13 99114060 99114060 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003576.3 -1 validated p.A353S 0.999 76 0% 63 50.8% 101 42.5% benign(0.005) tolerated(0.25) neutral(0.037) NULL STK24 8428 genome.wustl.edu 37 13 99118752 99118752 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003576.3 -1 validated p.E233K 1.000 139 0% 109 45.9% 129 51.1% benign(0.072) deleterious(0) neutral(0.450) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLC15A1 6564 genome.wustl.edu 37 13 99376274 99376274 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005073.3 -1 reviewed p.S86L 0.017 136 0% 60 43.3% 5 60% benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_PTR2,superfamily_MFS general substrate transporter,PatternScan_PTR2_1 DOCK9 23348 genome.wustl.edu 37 13 99519785 99519785 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130049.1 -1 validated p.L1061 0.997 242 0% 127 15.7% 9 22.2% - - - NULL GPR183 1880 genome.wustl.edu 37 13 99947534 99947534 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004951.4 -1 reviewed p.S289Y 1.000 149 0% 64 42.2% 3 0% possibly_damaging(0.893) deleterious(0.03) deleterious(0.716) HMMPfam_7tm_1,superfamily_SSF81321 TM9SF2 9375 genome.wustl.edu 37 13 100201465 100201465 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004800.1 +1 provisional p.F439L 1.000 540 0% 176 43.2% 101 46.5% benign(0) tolerated(1) - HMMPfam_EMP70 TMTC4 84899 genome.wustl.edu 37 13 101289892 101289892 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032813.2 -1 validated p.A300V 0.035 11 0% 17 64.7% 54 55.5% benign(0) tolerated(1) - NULL NALCN 259232 genome.wustl.edu 37 13 101717868 101717868 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052867.2 -1 validated p.R1498C 1.000 36 0% 30 50% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TPP2 7174 genome.wustl.edu 37 13 103286379 103286379 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003291.2 +1 reviewed p.T442A 1.000 85 0% 34 50% 18 55.5% benign(0.039) tolerated(0.29) neutral(0.031) HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53 METTL21C 196541 genome.wustl.edu 37 13 103338505 103338505 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010977.1 -1 predicted p.K224T 1.000 103 0% 66 60.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Methyltransf_16,superfamily_SSF53335 LOC643677 643677 genome.wustl.edu 37 13 103381858 103381858 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.S6911 0.000 122 0% 47 48.9% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103381916 103381916 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.R6892I 0.354 147 0% 60 43.3% 0 - unknown(0) deleterious(0.03) - NULL LOC643677 643677 genome.wustl.edu 37 13 103384540 103384540 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.I6017 0.000 444 0% 118 45.8% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103387547 103387547 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.S5015L 0.000 133 0% 41 34.1% 0 - probably_damaging(0.987) tolerated(0.14) deleterious(0.686) NULL LOC643677 643677 genome.wustl.edu 37 13 103387755 103387755 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.A4946T 0.000 197 0% 60 38.3% 0 - unknown(0) tolerated(0.31) - NULL LOC643677 643677 genome.wustl.edu 37 13 103388707 103388707 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.K4628N 0.001 181 0% 54 46.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL LOC643677 643677 genome.wustl.edu 37 13 103389712 103389712 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.L4293F 0.000 315 0% 77 41.6% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103391528 103391528 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.T3769M 0.000 372 0% 60 40% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103395303 103395303 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.L2511I 0.001 134 0.7% 42 50% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103397636 103397636 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.D1733G 0.002 146 0% 33 45.5% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103397913 103397913 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344085.1 -1 model p.A1641S 0.749 325 0% 79 26.6% 0 - - - - NULL ERCC5 2073 genome.wustl.edu 37 13 103514840 103514840 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000123.2 +1 reviewed p.A447 0.000 76 0% 30 43.3% 22 59% - - - superfamily_PIN domain-like ARGLU1 55082 genome.wustl.edu 37 13 107211797 107211797 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018011.3 -1 validated p.A186T 1.000 147 0.7% 83 20.5% 75 36% possibly_damaging(0.507) deleterious(0.01) deleterious(0.575) NULL LIG4 3981 genome.wustl.edu 37 13 108861415 108861415 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098268.1 -1 reviewed p.S734R 0.658 76 0% 51 27.5% 7 28.5% benign(0) tolerated(1) - superfamily_BRCT MYO16 23026 genome.wustl.edu 37 13 109379794 109379794 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015011.1 +1 validated p.R102W 1.000 313 0% 110 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat MYO16 23026 genome.wustl.edu 37 13 109610116 109610116 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015011.1 +1 validated p.R647Q 1.000 136 0% 86 51.2% 0 - benign(0) tolerated(1) - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109661382 109661382 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015011.1 +1 validated p.L838F 1.000 188 0% 78 46.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109779740 109779740 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015011.1 +1 validated p.S1276L 0.939 24 0% 20 45% 0 - benign(0.018) deleterious(0.05) neutral(0.346) NULL MYO16 23026 genome.wustl.edu 37 13 109831917 109831917 + Missense_Mutation SNP G G A rs188457804 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015011.1 +1 validated p.R1762Q 0.000 175 0% 80 36.2% 0 - possibly_damaging(0.863) deleterious(0) deleterious(0.778) NULL COL4A1 1282 genome.wustl.edu 37 13 110835388 110835388 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001845.4 -1 reviewed p.A683T 0.007 19 0% 12 33.3% 58 10.3% benign(0.004) tolerated(0.51) neutral(0.009) HMMPfam_Collagen ING1 3621 genome.wustl.edu 37 13 111371953 111371953 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005537.3 +1 reviewed p.A315T 0.976 11 0% 22 22.7% 57 40.3% benign(0) tolerated(0.58) neutral(0.005) NULL ARHGEF7 8874 genome.wustl.edu 37 13 111896229 111896229 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113511.1 +1 reviewed p.N278T 1.000 140 0% 44 40.9% 16 18.7% benign(0.238) deleterious(0.01) neutral(0.430) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),superfamily_SH3-domain TUBGCP3 10426 genome.wustl.edu 37 13 113170825 113170825 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006322.4 -1 provisional p.R672Q 1.000 107 0% 81 40.7% 22 31.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Spc97_Spc98 TUBGCP3 10426 genome.wustl.edu 37 13 113173318 113173318 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006322.4 -1 provisional p.D641N 1.000 185 0% 95 41.1% 21 42.8% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_Spc97_Spc98 C13orf35 400165 genome.wustl.edu 37 13 113333848 113333848 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207440.1 +1 provisional p.P52L 0.000 10 0% 11 63.6% 0 - possibly_damaging(0.877) - - NULL ATP11A 23250 genome.wustl.edu 37 13 113439524 113439524 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032189.3 +1 reviewed p.A39T 1.000 55 0% 55 34.5% 10 50% benign(0.17) tolerated(0.16) neutral(0.075) NULL F10 2159 genome.wustl.edu 37 13 113803344 113803344 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000504.3 +1 reviewed p.R327Q 0.001 20 0% 19 36.8% 0 - probably_damaging(0.968) tolerated(0.6) neutral(0.414) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases F10 2159 genome.wustl.edu 37 13 113803457 113803457 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000504.3 +1 reviewed p.G365R 1.000 12 0% 11 45.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases PCID2 55795 genome.wustl.edu 37 13 113854824 113854824 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127202.1 -1 validated p.E15K 1.000 100 0% 45 44.4% 16 62.5% benign(0.002) tolerated(0.43) neutral(0.013) NULL TFDP1 7027 genome.wustl.edu 37 13 114277538 114277538 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007111.4 +1 reviewed p.P41 0.001 73 0% 53 34% 75 48% - - - NULL TFDP1 7027 genome.wustl.edu 37 13 114287535 114287535 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007111.4 +1 reviewed p.E137K 1.000 41 0% 40 52.5% 84 52.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E2F_TDP,superfamily_SSF46785 POTEG 404785 genome.wustl.edu 37 14 19553822 19553822 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005356.2 +1 validated p.R136C 0.000 177 0% 148 25.7% 0 - benign(0.002) deleterious(0) neutral(0.445) superfamily_Ankyrin repeat POTEG 404785 genome.wustl.edu 37 14 19574307 19574307 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005356.2 +1 validated p.P455L 0.000 507 0% 226 24.3% 0 - probably_damaging(0.957) tolerated(0.19) neutral(0.450) NULL OR11H2 79334 genome.wustl.edu 37 14 20181452 20181452 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000334072 -1 known p.P208 0.076 335 0% 128 28.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4Q3 441669 genome.wustl.edu 37 14 20215665 20215665 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172194.1 +1 provisional p.L27I 0.727 515 0% 145 46.9% 0 - probably_damaging(0.998) tolerated(0.33) deleterious(0.498) superfamily_SSF81321 OR4M1 441670 genome.wustl.edu 37 14 20249045 20249045 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005500.1 +1 provisional p.A188 0.997 402 0% 174 44.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4N2 390429 genome.wustl.edu 37 14 20295622 20295622 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004723.1 +1 provisional p.N5 0.019 221 0% 90 21.1% 0 - - - - superfamily_SSF81321 OR4K14 122740 genome.wustl.edu 37 14 20482529 20482529 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004712.1 -1 provisional p.F275C 0.992 51 0% 30 66.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR4K13 390433 genome.wustl.edu 37 14 20502501 20502501 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004714.1 -1 provisional p.R139 0.000 72 0% 34 41.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4L1 122742 genome.wustl.edu 37 14 20528858 20528858 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004717.1 +1 provisional p.I219V 0.232 339 0% 123 34.1% 0 - benign(0) tolerated(0.87) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 OR4L1 122742 genome.wustl.edu 37 14 20529009 20529009 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004717.1 +1 provisional p.K269T 0.472 192 0% 56 41.1% 0 - benign(0.025) deleterious(0.04) neutral(0.350) HMMPfam_7tm_1,superfamily_SSF81321 OR11H4 390442 genome.wustl.edu 37 14 20711857 20711857 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004479.1 +1 provisional p.R303C 0.996 145 0% 51 39.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like CCNB1IP1 57820 genome.wustl.edu 37 14 20779835 20779835 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021178.3 -1 validated p.R236 1.000 144 0% 97 40.2% 66 40.9% - - - NULL PARP2 10038 genome.wustl.edu 37 14 20813188 20813188 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005484.3 +1 reviewed p.K48N 0.665 183 0% 98 18.4% 20 40% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL PARP2 10038 genome.wustl.edu 37 14 20820469 20820469 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005484.3 +1 reviewed p.Y201C 1.000 260 0% 141 45.4% 28 46.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TEP1 7011 genome.wustl.edu 37 14 20863739 20863739 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007110.4 -1 reviewed p.R600 0.004 134 0% 98 41.8% 3 0% - - - HMMPfam_TROVE TEP1 7011 genome.wustl.edu 37 14 20864865 20864865 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007110.4 -1 reviewed p.A525V 1.000 56 0% 42 42.9% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TROVE OSGEP 55644 genome.wustl.edu 37 14 20916318 20916318 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017807.2 -1 validated p.R217W 0.993 208 0.5% 132 45.5% 58 31% probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMPfam_Peptidase_M22,superfamily_SSF53067 RNASE10 338879 genome.wustl.edu 37 14 20979225 20979225 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012975.1 +1 provisional p.K199Q 0.030 69 0% 49 40.8% 0 - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like RNASE9 390443 genome.wustl.edu 37 14 21024654 21024654 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001673.3 -1 provisional p.R192I 0.001 159 0% 66 48.5% 0 - possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) NULL RNASE9 390443 genome.wustl.edu 37 14 21024773 21024773 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001673.3 -1 provisional p.A152 0.000 201 0% 78 44.9% 0 - - - - superfamily_RNase A-like OR6S1 341799 genome.wustl.edu 37 14 21109828 21109828 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001968.1 -1 provisional p.S8I 0.985 33 0% 15 40% 0 - possibly_damaging(0.948) deleterious(0.03) deleterious(0.756) NULL EDDM3A 10876 genome.wustl.edu 37 14 21215846 21215846 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006683.4 +1 validated p.L36R 0.006 143 0% 67 38.8% 0 - possibly_damaging(0.797) tolerated(0.7) neutral(0.301) superfamily_RNaseA EDDM3A 10876 genome.wustl.edu 37 14 21216048 21216048 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006683.4 +1 validated p.L103 0.062 120 0% 48 39.6% 0 - - - - superfamily_RNaseA EDDM3B 64184 genome.wustl.edu 37 14 21238527 21238527 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022360.4 +1 validated p.W73* 0.082 155 0% 61 47.5% 0 - - - - superfamily_RNaseA RNASE1 6035 genome.wustl.edu 37 14 21270187 21270187 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002933.4 -1 reviewed p.V14A 0.004 29 0% 25 16% 20 0% possibly_damaging(0.646) tolerated(1) neutral(0.227) NULL METTL17 64745 genome.wustl.edu 37 14 21463353 21463353 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029991.1 +1 validated p.G302 0.990 288 0% 151 42.4% 43 30.2% - - - HMMPfam_Rsm22 RNASE7 84659 genome.wustl.edu 37 14 21511215 21511215 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032572.3 +1 validated p.A22S 0.002 38 0% 29 51.7% 0 - benign(0.005) tolerated(0.17) neutral(0.059) NULL RNASE7 84659 genome.wustl.edu 37 14 21511407 21511407 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032572.3 +1 validated p.P86S 0.001 65 0% 41 65.9% 0 - benign(0) deleterious(0.01) neutral(0.406) HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like ARHGEF40 55701 genome.wustl.edu 37 14 21542278 21542278 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018071.3 +1 validated p.R130Q 0.975 19 0% 13 46.2% 7 57.1% probably_damaging(0.988) tolerated(0.29) neutral(0.467) NULL HNRNPC 3183 genome.wustl.edu 37 14 21681171 21681171 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077442.1 -1 reviewed p.K170N 1.000 185 0% 61 34.4% 582 40.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RPGRIP1 57096 genome.wustl.edu 37 14 21798506 21798506 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020366.3 +1 reviewed p.H1066 0.007 279 0% 110 47.3% 0 - - - - NULL SUPT16H 11198 genome.wustl.edu 37 14 21820963 21820963 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007192.3 -1 reviewed p.R1005C 1.000 185 0.5% 92 41.3% 71 46.4% possibly_damaging(0.936) deleterious(0.05) deleterious(0.727) NULL CHD8 57680 genome.wustl.edu 37 14 21859717 21859717 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020920.3 -1 reviewed p.T2045A 1.000 47 0% 18 50% 74 40.5% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_BRK,HMMSmart_SM00592 CHD8 57680 genome.wustl.edu 37 14 21859990 21859990 + Splice_Site SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020920.3 -1 reviewed e34+2 1.000 407 0% 206 43.2% 0 - - - - - CHD8 57680 genome.wustl.edu 37 14 21868659 21868659 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020920.3 -1 reviewed p.R1216C 1.000 104 0% 57 12.3% 17 35.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_P-loop containing nucleoside triphosphate hydrolases CHD8 57680 genome.wustl.edu 37 14 21873401 21873401 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020920.3 -1 reviewed p.R813C 1.000 169 0% 98 45.9% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N METTL3 56339 genome.wustl.edu 37 14 21969242 21969242 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019852.3 -1 reviewed p.S310Y 1.000 100 0% 30 16.7% 46 34.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL OR10G3 26533 genome.wustl.edu 37 14 22038083 22038083 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005465.1 -1 validated p.T265A 0.940 60 0% 43 44.2% 0 - benign(0.002) tolerated(0.13) neutral(0.253) HMMPfam_7tm_1,superfamily_SSF81321 ABHD4 63874 genome.wustl.edu 37 14 23070609 23070609 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022060.2 +1 validated p.R21C 1.000 58 0% 46 45.7% 25 52% unknown(0) deleterious(0.01) - NULL LRP10 26020 genome.wustl.edu 37 14 23345402 23345402 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014045.3 +1 validated p.T415 0.003 46 0% 43 27.9% 98 40.8% - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module REM2 161253 genome.wustl.edu 37 14 23354209 23354209 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173527.2 +1 validated p.E144K 0.984 15 0% 15 46.7% 2 100% possibly_damaging(0.831) tolerated(0.07) deleterious(0.635) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases REM2 161253 genome.wustl.edu 37 14 23355347 23355347 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173527.2 +1 validated p.R212W 0.993 14 0% 14 50% 7 57.1% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PRMT5 10419 genome.wustl.edu 37 14 23397378 23397378 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006109.3 -1 validated p.R91H 0.990 113 0% 68 23.5% 56 17.8% benign(0.004) tolerated(0.16) neutral(0.059) NULL SLC22A17 51310 genome.wustl.edu 37 14 23817804 23817804 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020372.2 -1 provisional p.F201 1.000 30 0% 28 53.6% 6 33.3% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter EFS 10278 genome.wustl.edu 37 14 23828094 23828094 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005864.2 -1 reviewed p.P414 0.000 10 0% 17 29.4% 5 40% - - - NULL EFS 10278 genome.wustl.edu 37 14 23829477 23829477 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005864.2 -1 reviewed p.P104L 1.000 39 0% 54 42.6% 7 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CMTM5 116173 genome.wustl.edu 37 14 23847620 23847620 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138460.2 +1 reviewed p.A63 0.021 96 0% 93 45.2% 0 - - - - HMMPfam_MARVEL MYH7 4625 genome.wustl.edu 37 14 23885403 23885403 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000257.2 -1 reviewed p.R1588H 1.000 111 0% 96 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_tail_1 MYH7 4625 genome.wustl.edu 37 14 23897768 23897768 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000257.2 -1 reviewed p.E507K 1.000 192 0% 160 38.8% 0 - benign(0.04) deleterious(0.03) neutral(0.367) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23902875 23902875 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000257.2 -1 reviewed p.R23W 1.000 24 0% 20 40% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL NGDN 25983 genome.wustl.edu 37 14 23946717 23946717 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042635.1 +1 validated p.Q292H 1.000 165 0% 103 43.7% 30 36.6% probably_damaging(0.981) tolerated(0.06) deleterious(0.748) NULL ENSG00000246609 0 genome.wustl.edu 37 14 24035764 24035764 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000502153 +1 known NULL 0.955 120 0% 92 45.7% 5 40% - - - - DHRS4L1 728635 genome.wustl.edu 37 14 24518540 24518540 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001082488.1 +1 provisional p.R241Q 0.000 325 0% 188 37.8% 4 25% benign(0.002) tolerated(0.7) neutral(0.002) superfamily_NAD(P)-binding Rossmann-fold domains LRRC16B 90668 genome.wustl.edu 37 14 24529234 24529234 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138360.3 +1 validated p.R642C 1.000 20 0% 15 33.3% 2 50% unknown(0) deleterious(0) - NULL FITM1 161247 genome.wustl.edu 37 14 24601466 24601466 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203402.2 +1 validated p.G105S 0.999 80 0% 66 42.4% 0 - benign(0.236) tolerated(0.53) neutral(0.031) HMMPfam_Scs3p RNF31 55072 genome.wustl.edu 37 14 24619303 24619303 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017999.4 +1 validated p.S281 0.000 35 0% 43 53.5% 15 46.6% - - - NULL RNF31 55072 genome.wustl.edu 37 14 24620580 24620580 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017999.4 +1 validated p.R577* 0.954 58 0% 51 43.1% 24 25% - - - NULL RNF31 55072 genome.wustl.edu 37 14 24629127 24629127 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017999.4 +1 validated p.A985V 1.000 31 0% 22 22.7% 36 72.2% probably_damaging(0.998) tolerated(1) deleterious(0.474) NULL IRF9 10379 genome.wustl.edu 37 14 24632351 24632351 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006084.4 +1 validated p.I119 0.000 70 0% 55 50.9% 23 43.4% - - - NULL IRF9 10379 genome.wustl.edu 37 14 24633100 24633100 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006084.4 +1 validated p.A170V 0.001 28 0% 26 53.8% 13 38.4% benign(0.02) tolerated(0.5) neutral(0.011) NULL GMPR2 51292 genome.wustl.edu 37 14 24704989 24704989 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016576.3 +1 validated p.W103S 1.000 284 0% 172 42.4% 36 47.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IMPDH,superfamily_Inosine monophosphate dehydrogenase (IMPDH) TINF2 26277 genome.wustl.edu 37 14 24711353 24711353 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099274.1 -1 reviewed p.K62N 0.998 26 0% 30 26.7% 21 14.2% benign(0.009) deleterious(0.01) neutral(0.406) NULL TGM1 7051 genome.wustl.edu 37 14 24728341 24728341 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000359.2 -1 reviewed p.R367C 0.517 20 0% 26 69.2% 3 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF54001 RABGGTA 5875 genome.wustl.edu 37 14 24735637 24735637 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004581.3 -1 validated p.N518 1.000 46 0% 46 34.8% 43 39.5% - - - superfamily_SSF52058 RABGGTA 5875 genome.wustl.edu 37 14 24736874 24736874 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004581.3 -1 validated p.A449T 0.979 27 0% 18 33.3% 57 50.8% benign(0.001) tolerated(0.21) neutral(0.044) superfamily_SSF52058 ADCY4 196883 genome.wustl.edu 37 14 24788594 24788594 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139247.2 -1 reviewed p.G928S 0.993 114 0% 94 54.3% 3 0% possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain ADCY4 196883 genome.wustl.edu 37 14 24792648 24792648 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139247.2 -1 reviewed p.T687A 0.316 76 0% 68 29.4% 6 16.6% benign(0) tolerated(0.38) neutral(0.018) NULL NYNRIN 57523 genome.wustl.edu 37 14 24877150 24877150 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025081.2 +1 validated p.L92I 0.451 21 0% 22 59.1% 10 60% possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) NULL KHNYN 23351 genome.wustl.edu 37 14 24905652 24905652 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015299.2 +1 validated p.R582* 0.945 81 0% 64 26.6% 31 16.1% - - - NULL NOVA1 4857 genome.wustl.edu 37 14 26918116 26918116 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002515.2 -1 reviewed p.G191 1.000 139 0% 93 43% 0 - - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) NOVA1 4857 genome.wustl.edu 37 14 27064628 27064628 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002515.2 -1 reviewed p.D90Y 1.000 361 0% 230 43.9% 0 - unknown(0) deleterious(0) - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) PRKD1 5587 genome.wustl.edu 37 14 30100089 30100089 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002742.2 -1 validated p.S511P 0.436 197 0% 67 14.9% 11 45.4% benign(0) tolerated(0.19) neutral(0.050) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PRKD1 5587 genome.wustl.edu 37 14 30105519 30105519 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002742.2 -1 validated p.H389 0.006 159 0% 80 50% 8 50% - - - NULL G2E3 55632 genome.wustl.edu 37 14 31055950 31055950 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017769.3 +1 validated p.D22N 1.000 150 0% 38 34.2% 3 66.6% benign(0.037) tolerated(0.41) neutral(0.017) NULL G2E3 55632 genome.wustl.edu 37 14 31061585 31061585 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017769.3 +1 validated p.C98 1.000 344 0% 119 36.1% 4 75% - - - HMMSmart_PHD,PatternScan_ZF_PHD_1 G2E3 55632 genome.wustl.edu 37 14 31061590 31061590 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017769.3 +1 validated p.R100Q 1.000 342 0% 121 49.6% 4 25% possibly_damaging(0.855) tolerated(0.21) neutral(0.374) HMMSmart_PHD,PatternScan_ZF_PHD_1 STRN3 29966 genome.wustl.edu 37 14 31404447 31404447 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083893.1 -1 validated p.E304* 1.000 318 0.3% 162 48.1% 10 20% - - - NULL HEATR5A 25938 genome.wustl.edu 37 14 31813183 31813183 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015473.2 -1 validated p.A756 0.982 91 0% 38 52.6% 9 0% - - - superfamily_ARM repeat C14orf126 112487 genome.wustl.edu 37 14 31917608 31917608 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080664.2 -1 validated p.V78 0.959 327 0% 173 41% 13 53.8% - - - HMMPfam_Tyr_Deacylase,superfamily_DTyrtRNA_deacyls ARHGAP5 394 genome.wustl.edu 37 14 32563438 32563438 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001030055.1 +1 reviewed p.R1188I 1.000 215 0% 75 50.7% 7 57.1% benign(0.062) deleterious(0) neutral(0.449) NULL AKAP6 9472 genome.wustl.edu 37 14 33004863 33004863 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004274.4 +1 reviewed p.D143G 1.000 56 0% 27 51.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKAP6 9472 genome.wustl.edu 37 14 33292209 33292209 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004274.4 +1 reviewed p.S1730 0.114 78 0% 39 17.9% 1 0% - - - NULL NPAS3 64067 genome.wustl.edu 37 14 33684531 33684531 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173159.2 +1 reviewed p.R65Q 1.000 151 0% 59 47.5% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic BAZ1A 11177 genome.wustl.edu 37 14 35243583 35243583 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013448.2 -1 validated p.L983I 1.000 348 0% 123 39% 14 50% benign(0.024) tolerated(1) neutral(0.001) NULL RALGAPA1 253959 genome.wustl.edu 37 14 36096435 36096435 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194301.2 -1 provisional p.E1734* 1.000 458 0% 206 45.6% 3 66.6% - - - superfamily_SSF111347 RALGAPA1 253959 genome.wustl.edu 37 14 36097066 36097066 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194301.2 -1 provisional p.S1523 0.995 98 0% 65 27.7% 4 50% - - - NULL RALGAPA1 253959 genome.wustl.edu 37 14 36103902 36103902 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194301.2 -1 provisional p.S1452N 1.000 164 0% 79 11.4% 2 0% possibly_damaging(0.479) tolerated(0.33) neutral(0.182) NULL RALGAPA1 253959 genome.wustl.edu 37 14 36143908 36143908 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194301.2 -1 provisional p.S1038 1.000 69 0% 36 52.8% 5 60% - - - NULL RALGAPA1 253959 genome.wustl.edu 37 14 36230194 36230194 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194301.2 -1 provisional p.R130C 1.000 177 0.6% 66 50% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PAX9 5083 genome.wustl.edu 37 14 37145483 37145483 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006194.3 +1 reviewed p.S284 0.993 89 0% 55 49.1% 16 50% unknown(0) - - NULL PAX9 5083 genome.wustl.edu 37 14 37145591 37145591 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006194.3 +1 reviewed p.S320 0.997 48 0% 33 51.5% 15 60% - - - NULL SEC23A 10484 genome.wustl.edu 37 14 39536499 39536499 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006364.2 -1 reviewed p.G369R 1.000 191 0% 87 27.6% 28 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec23_trunk,superfamily_SSF53300,superfamily_SSF81995 GEMIN2 8487 genome.wustl.edu 37 14 39597505 39597505 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003616.2 +1 reviewed p.E196* 1.000 481 0% 217 15.2% 5 0% - - - HMMPfam_SIP1 PNN 5411 genome.wustl.edu 37 14 39648300 39648300 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002687.3 +1 validated p.K168 0.999 215 0% 126 48.4% 56 48.2% - - - HMMPfam_Pinin_SDK_memA LRFN5 145581 genome.wustl.edu 37 14 42356332 42356332 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152447.3 +1 validated p.E168D 1.000 158 0% 71 42.3% 0 - benign(0.429) tolerated(0.54) neutral(0.147) HMMPfam_LRR_1,superfamily_SSF52058 FSCB 84075 genome.wustl.edu 37 14 44973760 44973760 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032135.3 -1 validated p.E811* 0.010 195 0% 72 33.3% 0 - - - - NULL FAM179B 23116 genome.wustl.edu 37 14 45433477 45433477 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015091.2 +1 validated p.R618I 1.000 77 0% 45 42.2% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_ARM repeat FANCM 57697 genome.wustl.edu 37 14 45605329 45605329 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020937.2 +1 reviewed p.P32L 0.986 8 0.000 10 0.500 3 33.3% benign(0.244) deleterious(0) deleterious(0.469) NULL FANCM 57697 genome.wustl.edu 37 14 45645454 45645454 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020937.2 +1 reviewed p.A1166V 0.000 240 0% 90 43.3% 2 50% possibly_damaging(0.8) tolerated(1) neutral(0.301) NULL FANCM 57697 genome.wustl.edu 37 14 45667953 45667953 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020937.2 +1 reviewed p.T1941 0.928 188 0% 99 37.4% 7 28.5% benign(0) tolerated(0.61) neutral(0.004) superfamily_Restriction endonuclease-like MIS18BP1 55320 genome.wustl.edu 37 14 45693531 45693531 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018353.4 -1 validated p.K753N 0.367 397 0% 163 50.3% 7 28.5% possibly_damaging(0.586) deleterious(0) deleterious(0.647) NULL MDGA2 161357 genome.wustl.edu 37 14 47530477 47530477 + Silent SNP G G A rs137900737 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113498.1 -1 validated p.I431 0.996 132 0% 45 48.9% 0 - - - - superfamily_SSF48726 DNAAF2 55172 genome.wustl.edu 37 14 50100137 50100137 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018139.2 -1 reviewed p.E577D 0.708 154 0% 106 40.6% 13 30.7% possibly_damaging(0.579) tolerated(0.61) neutral(0.203) NULL KLHDC2 23588 genome.wustl.edu 37 14 50249147 50249147 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014315.2 +1 validated p.A339V 1.000 342 0% 161 43.5% 72 43% probably_damaging(0.994) tolerated(0.09) deleterious(0.748) superfamily_Galactose oxidase central domain NEMF 9147 genome.wustl.edu 37 14 50267233 50267233 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004713.3 -1 validated p.K759N 0.129 458 0% 245 43.7% 12 16.6% benign(0) tolerated(0.5) neutral(0.010) NULL NEMF 9147 genome.wustl.edu 37 14 50298052 50298052 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004713.3 -1 validated p.E304* 1.000 800 0% 353 38% 3 33.3% - - - NULL NEMF 9147 genome.wustl.edu 37 14 50304857 50304857 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004713.3 -1 validated p.P192S 1.000 148 0% 106 35.8% 15 60% benign(0.023) tolerated(0.34) neutral(0.024) NULL C14orf182 283551 genome.wustl.edu 37 14 50472409 50472409 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012706.1 -1 validated p.E37K 0.012 185 0% 144 39.6% 0 - possibly_damaging(0.615) - - NULL MAP4K5 11183 genome.wustl.edu 37 14 50904246 50904246 + Silent SNP G G A rs191525698 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006575.3 -1 reviewed p.F610 0.994 346 0% 92 44.6% 27 40.7% - - - HMMPfam_CNH,HMMSmart_SM00036 MAP4K5 11183 genome.wustl.edu 37 14 50941832 50941832 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006575.3 -1 reviewed p.I169V 1.000 404 0% 200 41% 20 45% benign(0) tolerated(0.31) neutral(0.027) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ABHD12B 145447 genome.wustl.edu 37 14 51345506 51345506 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000337334 +1 known p.K92N 0.758 171 0.6% 78 42.3% 1 0% probably_damaging(0.999) - - NULL PYGL 5836 genome.wustl.edu 37 14 51376642 51376642 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002863.4 -1 reviewed p.I716M 1.000 152 0% 108 30.6% 112 49.1% benign(0.003) deleterious(0) neutral(0.445) HMMPfam_Phosphorylase,superfamily_SSF53756 ENSG00000251771 0 genome.wustl.edu 37 14 52071561 52071561 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000515962 -1 novel NULL 0.165 31 0.000 9 0.444 0 - - - - - FRMD6 122786 genome.wustl.edu 37 14 52169305 52169305 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042481.1 +1 validated p.S116G 1.000 349 0.3% 85 14.1% 3 33.3% benign(0) tolerated(0.15) neutral(0.241) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 ERO1L 30001 genome.wustl.edu 37 14 53119836 53119836 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014584.1 -1 provisional p.Q336* 0.620 221 0% 65 44.6% 23 13% - - - HMMPfam_ERO1,superfamily_ERO1 STYX 6815 genome.wustl.edu 37 14 53237817 53237817 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130701.1 +1 validated p.N222T 1.000 286 0% 92 44.6% 22 54.5% possibly_damaging(0.454) deleterious(0.01) deleterious(0.554) NULL FERMT2 10979 genome.wustl.edu 37 14 53331496 53331496 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134999.1 -1 validated p.G450D 1.000 357 0% 147 40.1% 28 50% possibly_damaging(0.769) tolerated(0.06) deleterious(0.608) HMMPfam_PH,HMMSmart_PH,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF50729 BMP4 652 genome.wustl.edu 37 14 54417210 54417210 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001202.3 -1 reviewed p.R256Q 1.000 14 0% 23 39.1% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGFb_propeptide CNIH 10175 genome.wustl.edu 37 14 54897091 54897091 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005776.2 -1 validated p.G99* 1.000 266 0% 123 43.9% 78 16.6% - - - HMMPfam_Cornichon SAMD4A 23034 genome.wustl.edu 37 14 55215638 55215638 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015589.4 +1 validated p.A361V 1.000 35 0% 30 53.3% 2 100% probably_damaging(0.955) tolerated(0.13) deleterious(0.651) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain WDHD1 11169 genome.wustl.edu 37 14 55429826 55429826 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007086.2 -1 reviewed p.A792D 1.000 214 0.9% 101 39.6% 7 71.4% possibly_damaging(0.916) tolerated(0.08) deleterious(0.667) superfamily_WD40_like WDHD1 11169 genome.wustl.edu 37 14 55453891 55453891 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007086.2 -1 reviewed p.E581K 1.000 136 0% 56 44.6% 9 44.4% benign(0.058) tolerated(0.29) neutral(0.033) superfamily_WD40_like FBXO34 55030 genome.wustl.edu 37 14 55818564 55818564 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017943.3 +1 validated p.P486S 0.354 102 0% 54 48.1% 15 26.6% benign(0.002) tolerated(1) - NULL NAA30 122830 genome.wustl.edu 37 14 57876173 57876173 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001011713.2 +1 validated p.R343M 1.000 315 0% 100 42% 7 42.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Acyl-CoA N-acyltransferases (Nat) SLC35F4 341880 genome.wustl.edu 37 14 58060744 58060744 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080455.1 -1 provisional p.E104K 0.982 121 0% 61 47.5% 0 - benign(0.243) tolerated(0.1) neutral(0.311) NULL ARID4A 5926 genome.wustl.edu 37 14 58771701 58771701 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002892.3 +1 reviewed p.D53Y 1.000 323 0% 136 41.2% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA0586 9786 genome.wustl.edu 37 14 58927740 58927740 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014749.3 +1 validated p.D565Y 0.999 276 0% 93 40.9% 9 33.3% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL DACT1 51339 genome.wustl.edu 37 14 59112127 59112127 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016651.5 +1 validated p.N262 1.000 122 0% 79 34.2% 8 12.5% - - - NULL DAAM1 23002 genome.wustl.edu 37 14 59789674 59789674 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014992.1 +1 reviewed p.D169Y 1.000 142 0% 82 40.2% 15 20% unknown(0) deleterious(0.01) - HMMPfam_Drf_GBD DAAM1 23002 genome.wustl.edu 37 14 59790858 59790858 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014992.1 +1 reviewed p.D263N 1.000 436 0.2% 181 40.3% 19 42.1% unknown(0) tolerated(0.24) - HMMPfam_Drf_FH3 DAAM1 23002 genome.wustl.edu 37 14 59792771 59792771 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014992.1 +1 reviewed p.L384 1.000 125 0% 77 51.9% 27 40.7% - - - HMMPfam_Drf_FH3 C14orf149 112849 genome.wustl.edu 37 14 59945931 59945931 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144581.1 -1 provisional p.A216V 1.000 82 0% 59 44.1% 10 10% benign(0.031) deleterious(0.01) neutral(0.407) HMMPfam_Pro_racemase,superfamily_Diaminopimelate epimerase-like C14orf149 112849 genome.wustl.edu 37 14 59946069 59946069 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144581.1 -1 provisional p.D170G 1.000 86 0% 54 14.8% 3 0% benign(0.271) deleterious(0.03) neutral(0.394) HMMPfam_Pro_racemase,superfamily_Diaminopimelate epimerase-like JKAMP 51528 genome.wustl.edu 37 14 59953512 59953512 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016475.3 +1 validated p.G29E 1.000 558 0% 282 35.5% 23 30.4% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_DUF766 JKAMP 51528 genome.wustl.edu 37 14 59961837 59961837 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016475.3 +1 validated p.R118H 1.000 441 0.2% 210 48.1% 41 53.6% benign(0.016) tolerated(0.49) neutral(0.011) HMMPfam_DUF766 C14orf38 729665 genome.wustl.edu 37 14 60039508 60039508 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000281581 -1 known p.I89 0.883 580 0.2% 283 48.8% 0 - - - - NULL LOC100289241 100289241 genome.wustl.edu 37 14 60976116 60976116 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343304.1 -1 model p.I59 1.000 7 0.000 6 0.667 0 - - - - NULL ENSG00000184902 0 genome.wustl.edu 37 14 61247047 61247047 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000331888 +1 known p.E77D 1.000 396 0% 203 45.3% 0 - - - - NULL HIF1A 3091 genome.wustl.edu 37 14 62194334 62194334 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001530.3 +1 validated p.R245Q 1.000 147 0.7% 60 35% 91 43.9% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) HIF1A 3091 genome.wustl.edu 37 14 62211492 62211492 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001530.3 +1 validated p.K721N 1.000 175 0% 68 55.9% 144 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HIF1A 3091 genome.wustl.edu 37 14 62212433 62212433 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001530.3 +1 validated p.D743N 0.911 275 0% 159 44% 152 35.5% possibly_damaging(0.922) tolerated(0.13) deleterious(0.624) NULL SNAPC1 6617 genome.wustl.edu 37 14 62233995 62233995 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003082.3 +1 validated p.Q118H 0.990 221 0% 133 45.9% 8 25% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_SNAPc_SNAP43 KCNH5 27133 genome.wustl.edu 37 14 63447745 63447745 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139318.3 -1 reviewed p.V263I 1.000 141 0% 59 42.4% 0 - possibly_damaging(0.917) tolerated(0.35) neutral(0.389) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels PPP2R5E 5529 genome.wustl.edu 37 14 63920492 63920492 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006246.2 -1 reviewed p.R90H 1.000 294 0% 162 47.5% 20 45% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_B56,superfamily_ARM repeat SYNE2 23224 genome.wustl.edu 37 14 64421548 64421548 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182914.2 +1 reviewed p.K234N 0.016 287 0.3% 118 44.9% 9 55.5% probably_damaging(0.978) - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology SYNE2 23224 genome.wustl.edu 37 14 64461780 64461780 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182914.2 +1 reviewed p.S934P 0.987 214 0% 59 33.9% 4 75% probably_damaging(0.99) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64522810 64522810 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182914.2 +1 reviewed p.R3298Q 0.092 99 0% 61 45.9% 8 25% benign(0.282) - - superfamily_Spectrin ZBTB1 22890 genome.wustl.edu 37 14 64989717 64989717 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001123329.1 +1 validated p.E499K 0.996 192 0% 88 36.4% 17 41.1% possibly_damaging(0.475) deleterious(0.03) deleterious(0.521) NULL HSPA2 3306 genome.wustl.edu 37 14 65008734 65008734 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021979.3 +1 validated p.E389D 1.000 9 0.000 10 0.500 15 20% benign(0) deleterious(0) neutral(0.445) HMMPfam_HSP70,superfamily_SSF100920 PLEKHG3 26030 genome.wustl.edu 37 14 65198173 65198173 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015549.1 +1 validated p.R259H 1.000 49 0% 33 51.5% 20 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 SPTB 6710 genome.wustl.edu 37 14 65253154 65253154 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024858.2 -1 reviewed p.A1177T 1.000 21 0% 22 36.4% 0 - benign(0.109) tolerated(0.17) neutral(0.068) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTB 6710 genome.wustl.edu 37 14 65262277 65262277 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024858.2 -1 reviewed p.Y474 0.580 14 0% 23 21.7% 1 100% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MAX 4149 genome.wustl.edu 37 14 65544747 65544747 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002382.3 -1 reviewed p.R60Q 1.000 271 0% 190 48.9% 61 44.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain MPP5 64398 genome.wustl.edu 37 14 67779415 67779415 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022474.2 +1 validated p.G405R 1.000 208 0% 102 50% 8 50% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 MPP5 64398 genome.wustl.edu 37 14 67799567 67799567 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022474.2 +1 validated p.T641M 0.999 158 0% 68 26.5% 10 30% benign(0.008) tolerated(0.36) neutral(0.020) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases PLEKHH1 57475 genome.wustl.edu 37 14 68045266 68045266 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020715.2 +1 validated p.A923T 1.000 24 0% 18 38.9% 13 61.5% possibly_damaging(0.872) deleterious(0.02) deleterious(0.722) HMMPfam_MyTH4,HMMSmart_SM00139 PLEKHH1 57475 genome.wustl.edu 37 14 68048887 68048887 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020715.2 +1 validated p.N1129S 1.000 48 0% 41 46.3% 7 42.8% benign(0.022) tolerated(0.9) neutral(0.001) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 PIGH 5283 genome.wustl.edu 37 14 68060483 68060483 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004569.3 -1 reviewed p.V123I 1.000 147 0% 74 37.8% 18 38.8% benign(0.007) tolerated(0.35) neutral(0.021) HMMPfam_PIG-H VTI1B 10490 genome.wustl.edu 37 14 68126447 68126447 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006370.2 -1 validated e3+1 1.000 99 0% 73 35.6% 0 - - - - - RDH12 145226 genome.wustl.edu 37 14 68191275 68191275 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152443.2 +1 reviewed p.G52C 1.000 239 0% 168 39.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains ZFYVE26 23503 genome.wustl.edu 37 14 68220452 68220452 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015346.3 -1 reviewed p.G2387D 1.000 154 0% 77 31.2% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZFYVE26 23503 genome.wustl.edu 37 14 68221958 68221958 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015346.3 -1 reviewed p.R2266W 1.000 185 0% 109 37.6% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACTN1 87 genome.wustl.edu 37 14 69392303 69392303 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130004.1 -1 reviewed p.K64N 1.000 42 0% 39 48.7% 140 42.8% benign(0.009) tolerated(0.6) neutral(0.005) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology EXD2 55218 genome.wustl.edu 37 14 69697307 69697307 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018199.2 +1 provisional p.E112* 0.998 232 0% 150 48.7% 10 10% - - - HMMPfam_3_5_exonuc,superfamily_RNaseH_fold GALNTL1 57452 genome.wustl.edu 37 14 69791495 69791495 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020692.2 +1 validated p.R141H 1.000 45 0% 34 35.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases SLC8A3 6547 genome.wustl.edu 37 14 70527551 70527551 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183002.1 -1 reviewed e2+2 1.000 347 0% 186 46.8% 0 - - - - - SLC8A3 6547 genome.wustl.edu 37 14 70635054 70635054 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183002.1 -1 reviewed p.R29Q 1.000 45 0% 14 64.3% 0 - benign(0) tolerated(0.62) neutral(0.004) NULL ADAM21 8747 genome.wustl.edu 37 14 70925425 70925425 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003813.2 +1 reviewed p.I403 0.000 192 0% 81 40.7% 0 - - - - NULL ADAM21 8747 genome.wustl.edu 37 14 70925547 70925547 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003813.2 +1 reviewed p.A444V 0.168 93 0% 43 37.2% 0 - possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) ADAM21 8747 genome.wustl.edu 37 14 70925576 70925576 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003813.2 +1 reviewed p.D454Y 0.973 80 0% 40 45% 0 - benign(0.407) tolerated(0.16) neutral(0.191) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1 ADAM20 8748 genome.wustl.edu 37 14 70991044 70991044 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003814.4 -1 reviewed p.E194A 1.000 100 0% 40 55% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Pep_M12B_propep TTC9 23508 genome.wustl.edu 37 14 71134409 71134409 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015351.1 +1 reviewed p.D179Y 1.000 159 0% 89 47.2% 18 61.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like MAP3K9 4293 genome.wustl.edu 37 14 71199829 71199829 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033141.2 -1 validated p.L767M 1.000 8 0.000 16 0.500 3 33.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL PCNX 22990 genome.wustl.edu 37 14 71434932 71434932 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014982.2 +1 validated p.S162 1.000 434 0% 135 23% 3 0% - - - NULL PCNX 22990 genome.wustl.edu 37 14 71444033 71444033 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014982.2 +1 validated p.E327* 1.000 156 0.6% 77 49.4% 2 0% - - - NULL PCNX 22990 genome.wustl.edu 37 14 71444272 71444272 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014982.2 +1 validated p.S406R 1.000 71 0% 31 38.7% 11 45.4% unknown(0) deleterious(0.01) - NULL PCNX 22990 genome.wustl.edu 37 14 71514568 71514568 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014982.2 +1 validated p.R1402Q 1.000 441 0.7% 193 43% 7 71.4% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72176348 72176348 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015556.1 +1 provisional p.T1413I 0.999 54 0% 27 37% 29 48.2% benign(0.002) tolerated(0.08) neutral(0.300) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72196849 72196849 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015556.1 +1 provisional p.S1585 0.781 89 1.1% 60 41.7% 38 50% - - - NULL DPF3 8110 genome.wustl.edu 37 14 73137874 73137874 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012074.3 -1 provisional p.S348 0.835 57 0% 31 19.4% 0 - - - - NULL RBM25 58517 genome.wustl.edu 37 14 73544218 73544218 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021239.2 +1 validated p.D100Y 1.000 306 0% 152 42.8% 19 57.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RBM25 58517 genome.wustl.edu 37 14 73570131 73570131 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021239.2 +1 validated p.R367C 1.000 95 0% 67 49.3% 52 65.3% unknown(0) deleterious(0.01) - superfamily_RNA-binding domain RBD RBM25 58517 genome.wustl.edu 37 14 73577664 73577664 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021239.2 +1 validated p.E606 0.991 72 0% 54 42.6% 52 44.2% - - - NULL RBM25 58517 genome.wustl.edu 37 14 73586487 73586487 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021239.2 +1 validated p.A836S 1.000 515 0% 260 38.1% 18 55.5% unknown(0) deleterious(0) - HMMPfam_PWI,HMMSmart_SM00311,superfamily_PWI domain PSEN1 5663 genome.wustl.edu 37 14 73673138 73673138 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000021.3 +1 reviewed p.A305T 1.000 225 0% 149 10.7% 33 24.2% benign(0) tolerated(0.31) neutral(0.027) HMMPfam_Presenilin,HMMSmart_SM00730 PSEN1 5663 genome.wustl.edu 37 14 73685880 73685880 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000021.3 +1 reviewed p.K429N 1.000 445 0% 234 47.4% 44 40.9% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Presenilin,HMMSmart_SM00730 NUMB 8650 genome.wustl.edu 37 14 73763985 73763985 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005743.1 -1 reviewed p.K81N 1.000 350 0.3% 143 39.2% 16 37.5% possibly_damaging(0.863) deleterious(0.01) deleterious(0.739) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like HEATR4 399671 genome.wustl.edu 37 14 73964872 73964872 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203309.1 -1 provisional p.D798N 0.479 104 0% 71 45.1% 0 - benign(0) tolerated(0.1) neutral(0.286) superfamily_ARM-type_fold HEATR4 399671 genome.wustl.edu 37 14 73987610 73987610 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203309.1 -1 provisional p.A292S 0.988 151 0% 107 41.1% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ACOT6 641372 genome.wustl.edu 37 14 74086504 74086504 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037162.1 +1 validated p.H195 0.994 66 0% 22 31.8% 0 - - - - HMMPfam_BAAT_C,superfamily_SSF53474 ALDH6A1 4329 genome.wustl.edu 37 14 74538914 74538914 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005589.2 -1 reviewed p.E114* 1.000 121 0% 42 38.1% 19 10.5% - - - HMMPfam_Aldedh,superfamily_ALDH-like LTBP2 4053 genome.wustl.edu 37 14 74968224 74968224 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000428.2 -1 reviewed p.R1747H 1.000 22 0% 19 36.8% 4 25% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin LTBP2 4053 genome.wustl.edu 37 14 74970012 74970012 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000428.2 -1 reviewed p.R1600C 0.939 29 0% 43 53.5% 4 25% possibly_damaging(0.532) tolerated(0.12) neutral(0.441) HMMPfam_TB,superfamily_TB module/8-cys domain LTBP2 4053 genome.wustl.edu 37 14 74976539 74976539 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000428.2 -1 reviewed p.A1059T 0.819 45 0% 25 48% 5 0% benign(0.001) tolerated(0.58) neutral(0.005) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_EGF_CA,PatternScan_EGF_CA LTBP2 4053 genome.wustl.edu 37 14 75022360 75022360 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000428.2 -1 reviewed p.Q289H 1.000 13 0% 20 50% 2 0% benign(0) deleterious(0) neutral(0.445) NULL DLST 1743 genome.wustl.edu 37 14 75359606 75359606 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001933.4 +1 validated p.A171V 0.039 36 0% 27 44.4% 66 45.4% benign(0.003) tolerated(0.25) neutral(0.037) NULL ZC2HC1C 79696 genome.wustl.edu 37 14 75537605 75537605 + Missense_Mutation SNP C C T rs150713060 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024643.2 +1 validated p.S110L 0.005 131 0.8% 67 46.3% 2 50% benign(0.001) tolerated(0.16) neutral(0.059) NULL ZC2HC1C 79696 genome.wustl.edu 37 14 75538582 75538582 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024643.2 +1 validated p.Y436H 1.000 25 0% 13 46.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEK9 91754 genome.wustl.edu 37 14 75573211 75573211 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033116.4 -1 validated p.E508K 1.000 95 0% 84 48.8% 16 25% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_RCC1,superfamily_RCC1/BLIP-II ENSG00000119660 0 genome.wustl.edu 37 14 75759031 75759031 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000238638 -1 known p.M60I 0.001 8 0.000 12 0.417 0 - benign(0.001) tolerated(0.3) neutral(0.029) NULL FLVCR2 55640 genome.wustl.edu 37 14 76045533 76045533 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017791.2 +1 validated p.E73A 0.000 47 0% 52 34.6% 1 0% benign(0.056) tolerated(0.11) neutral(0.275) superfamily_MFS_gen_substrate_transporter FLVCR2 55640 genome.wustl.edu 37 14 76088480 76088480 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017791.2 +1 validated p.R243Q 0.000 319 0.6% 132 49.2% 2 0% benign(0) tolerated(0.58) neutral(0.005) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter FLVCR2 55640 genome.wustl.edu 37 14 76100017 76100017 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017791.2 +1 validated p.R333H 1.000 250 0% 127 41.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter TTLL5 23093 genome.wustl.edu 37 14 76147918 76147918 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015072.4 +1 reviewed p.R71Q 1.000 297 0% 98 57.1% 14 35.7% benign(0.209) tolerated(0.49) neutral(0.031) NULL TTLL5 23093 genome.wustl.edu 37 14 76149960 76149960 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015072.4 +1 reviewed p.R111H 1.000 196 0% 94 35.1% 10 60% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_TTL TTLL5 23093 genome.wustl.edu 37 14 76184216 76184216 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015072.4 +1 reviewed p.V251 1.000 80 0% 31 19.4% 12 25% - - - HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like TTLL5 23093 genome.wustl.edu 37 14 76238150 76238150 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015072.4 +1 reviewed p.G697S 0.948 123 0% 48 41.7% 10 70% benign(0.001) tolerated(0.37) neutral(0.019) NULL TGFB3 7043 genome.wustl.edu 37 14 76446944 76446944 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003239.2 -1 reviewed p.S98L 1.000 135 0% 135 38.5% 4 25% benign(0.205) tolerated(0.07) neutral(0.339) HMMPfam_TGFb_propeptide IFT43 112752 genome.wustl.edu 37 14 76542990 76542990 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052873.2 +1 validated p.K89T 0.000 76 0% 41 43.9% 3 100% benign(0) tolerated(0.14) neutral(0.249) NULL ESRRB 2103 genome.wustl.edu 37 14 76906045 76906045 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004452.3 +1 reviewed p.V117M 1.000 18 0% 18 38.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_ZnF_C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_SSF57716 ANGEL1 23357 genome.wustl.edu 37 14 77275817 77275817 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015305.3 -1 validated p.E78D 0.989 29 0% 30 30% 5 20% benign(0) tolerated(0.18) neutral(0.056) NULL C14orf166B 145497 genome.wustl.edu 37 14 77294867 77294867 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000216453 +1 known p.R65W 0.000 6 0.000 11 0.455 0 - unknown(0) - - NULL IRF2BPL 64207 genome.wustl.edu 37 14 77491830 77491830 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024496.2 -1 validated p.S769L 1.000 16 0% 23 43.5% 72 41.6% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL IRF2BPL 64207 genome.wustl.edu 37 14 77493003 77493003 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024496.2 -1 validated p.T378M 1.000 6 0.000 6 0.833 84 47.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL TMEM63C 57156 genome.wustl.edu 37 14 77686430 77686430 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020431.2 +1 validated p.K104N 1.000 23 0% 45 24.4% 2 0% benign(0.286) tolerated(0.57) neutral(0.094) NULL C14orf133 63894 genome.wustl.edu 37 14 77896104 77896104 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022067.2 -1 provisional p.L396M 1.000 116 0% 59 44.1% 12 66.6% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Golgin_A5 AHSA1 10598 genome.wustl.edu 37 14 77934519 77934519 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012111.2 +1 validated p.T262A 0.692 108 0.9% 71 46.5% 246 54.4% benign(0.012) tolerated(0.71) neutral(0.002) HMMPfam_AHSA1,superfamily_Bet v1-like ISM2 145501 genome.wustl.edu 37 14 77942294 77942294 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199296.2 -1 reviewed p.R454W 0.791 5 0.000 7 0.571 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AMOP,HMMSmart_SM00723 SNW1 22938 genome.wustl.edu 37 14 78221346 78221346 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012245.2 -1 reviewed p.Y44 0.992 233 0.9% 114 48.2% 48 47.9% unknown(0) - - NULL ADCK1 57143 genome.wustl.edu 37 14 78353558 78353558 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020421.3 +1 validated p.R183Q 1.000 25 0% 32 40.6% 4 50% benign(0) tolerated(0.6) neutral(0.004) HMMPfam_ABC1,superfamily_Kinase_like NRXN3 9369 genome.wustl.edu 37 14 79175585 79175585 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004796.4 +1 reviewed p.R43H 1.000 142 0% 55 52.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ConA_like_lec_gl NRXN3 9369 genome.wustl.edu 37 14 79181260 79181260 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004796.4 +1 reviewed p.V235M 1.000 16 0% 10 60% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN3 9369 genome.wustl.edu 37 14 79181455 79181455 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004796.4 +1 reviewed p.G300R 1.000 11 0.000 8 0.625 0 - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl NRXN3 9369 genome.wustl.edu 37 14 80164138 80164138 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004796.4 +1 reviewed p.R888Q 1.000 93 0% 17 23.5% 1 100% probably_damaging(0.969) tolerated(0.46) neutral(0.423) NULL DIO2 1734 genome.wustl.edu 37 14 80669165 80669165 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007023.2 -1 reviewed p.V266A 1.000 117 0% 67 43.3% 5 20% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_T4_deiodinase CEP128 145508 genome.wustl.edu 37 14 80993260 80993260 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152446.3 -1 validated p.L1009F 0.993 346 0% 126 42.9% 1 0% unknown(0) tolerated(0.05) - NULL CEP128 145508 genome.wustl.edu 37 14 81251483 81251483 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152446.3 -1 validated p.R656I 0.933 171 0% 90 41.1% 6 33.3% unknown(0) tolerated(0.16) - NULL CEP128 145508 genome.wustl.edu 37 14 81259158 81259158 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152446.3 -1 validated p.R502 0.672 225 0% 91 30.8% 5 20% - - - NULL CEP128 145508 genome.wustl.edu 37 14 81382743 81382743 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152446.3 -1 validated e1+2 1.000 200 0% 69 43.5% 0 - - - - - SEL1L 6400 genome.wustl.edu 37 14 81943522 81943522 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005065.4 -1 validated p.R727* 1.000 82 0% 48 39.6% 16 31.2% - - - NULL SEL1L 6400 genome.wustl.edu 37 14 81946066 81946066 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005065.4 -1 validated p.R689C 1.000 91 0% 68 16.2% 28 17.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sel1,HMMSmart_SM00671,superfamily_HCP-like FLRT2 23768 genome.wustl.edu 37 14 86088723 86088723 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013231.4 +1 reviewed p.R289W 1.000 63 0% 37 45.9% 1 100% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 GALC 2581 genome.wustl.edu 37 14 88442730 88442730 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000153.2 -1 reviewed p.E242K 0.976 187 0% 72 43.1% 4 50% possibly_damaging(0.731) tolerated(0.16) neutral(0.327) HMMPfam_Glyco_hydro_59,superfamily_(Trans)glycosidases GPR65 8477 genome.wustl.edu 37 14 88477671 88477671 + Silent SNP C C T rs139775422 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003608.3 +1 validated p.C160 0.000 110 0% 50 48% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR65 8477 genome.wustl.edu 37 14 88477997 88477997 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003608.3 +1 validated p.Y269C 0.580 312 0% 78 29.5% 1 0% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KCNK10 54207 genome.wustl.edu 37 14 88693832 88693832 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138317.2 -1 reviewed p.I190V 1.000 193 0% 81 38.3% 0 - benign(0.141) tolerated(0.15) neutral(0.253) HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels TTC8 123016 genome.wustl.edu 37 14 89307768 89307768 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144596.2 +1 reviewed e6-1 1.000 380 0% 128 42.2% 0 - - - - - C14orf102 55051 genome.wustl.edu 37 14 90755053 90755053 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017970.2 -1 validated p.S889N 0.007 43 0% 34 44.1% 3 0% benign(0.08) tolerated(0.41) neutral(0.020) NULL CALM1 801 genome.wustl.edu 37 14 90870756 90870756 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006888.4 +1 reviewed p.R107C 1.000 269 0.7% 147 42.9% 381 38.5% benign(0.124) deleterious(0.01) neutral(0.416) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand TTC7B 145567 genome.wustl.edu 37 14 91110408 91110408 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010854.1 -1 provisional p.Y579H 1.000 90 0% 43 60.5% 29 55.1% benign(0.027) tolerated(0.37) neutral(0.021) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like C14orf159 80017 genome.wustl.edu 37 14 91633643 91633643 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102368.1 +1 validated p.T60A 0.012 64 0% 47 34% 27 62.9% benign(0.25) tolerated(0.08) neutral(0.326) NULL C14orf159 80017 genome.wustl.edu 37 14 91671103 91671103 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102368.1 +1 validated p.R500G 0.996 40 0% 38 28.9% 70 32.8% benign(0.042) deleterious(0.04) neutral(0.351) NULL CCDC88C 440193 genome.wustl.edu 37 14 91739599 91739599 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080414.2 -1 validated p.E1819 0.992 7 0.000 7 0.714 14 35.7% - - - NULL CCDC88C 440193 genome.wustl.edu 37 14 91745647 91745647 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080414.2 -1 validated p.S1568L 0.960 167 0% 128 40.6% 21 61.9% possibly_damaging(0.685) deleterious(0.01) deleterious(0.650) NULL CATSPERB 79820 genome.wustl.edu 37 14 92195794 92195794 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024764.2 -1 validated p.V10 0.015 204 0% 58 27.6% 0 - - - - NULL TRIP11 9321 genome.wustl.edu 37 14 92436023 92436023 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004239.3 -1 reviewed p.K1978N 1.000 45 0% 20 40% 18 55.5% possibly_damaging(0.773) deleterious(0.04) deleterious(0.636) NULL TRIP11 9321 genome.wustl.edu 37 14 92436220 92436220 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004239.3 -1 reviewed p.S1913P 0.009 146 0% 51 39.2% 13 46.1% benign(0.08) tolerated(0.2) neutral(0.054) NULL TRIP11 9321 genome.wustl.edu 37 14 92469840 92469840 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004239.3 -1 reviewed p.R1494* 0.699 505 0% 257 13.2% 11 0% - - - NULL TRIP11 9321 genome.wustl.edu 37 14 92470807 92470807 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004239.3 -1 reviewed p.I1171 0.983 177 0% 80 47.5% 1 100% - - - NULL NDUFB1 4707 genome.wustl.edu 37 14 92583949 92583949 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004545.3 -1 validated p.H58Q 1.000 217 0% 112 49.1% 303 43.2% benign(0.002) tolerated(0.19) neutral(0.050) HMMPfam_NADH_oxidored LGMN 5641 genome.wustl.edu 37 14 93179217 93179217 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008530.1 -1 reviewed e7-1 1.000 31 0% 19 73.7% 0 - - - - - GOLGA5 9950 genome.wustl.edu 37 14 93301954 93301954 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005113.2 +1 reviewed p.L666M 0.669 221 0% 80 38.8% 28 46.4% benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_Golgin_A5 UBR7 55148 genome.wustl.edu 37 14 93676168 93676168 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175748.3 +1 validated e2-2 0.997 197 0% 97 45.4% 0 - - - - - BTBD7 55727 genome.wustl.edu 37 14 93760516 93760516 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002860.2 -1 validated p.R284W 1.000 119 0% 73 41.1% 7 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB UNC79 57578 genome.wustl.edu 37 14 94039109 94039109 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020818.3 +1 validated p.R496W 1.000 445 0% 168 49.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UNC79 57578 genome.wustl.edu 37 14 94156462 94156462 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020818.3 +1 validated e43-1 1.000 140 0% 77 11.7% 0 - - - - - LINC00521 256369 genome.wustl.edu 37 14 94467722 94467722 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_024182.1 +1 validated NULL 0.001 10 0% 12 75% 0 - - - - - DDX24 57062 genome.wustl.edu 37 14 94528875 94528875 + Missense_Mutation SNP C C T rs149296999 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020414.3 -1 reviewed p.E271K 0.002 49 0% 21 61.9% 82 47.5% benign(0) tolerated(0.31) neutral(0.027) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 IFI27 3429 genome.wustl.edu 37 14 94582185 94582185 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005532.3 +1 provisional p.S60 0.000 12 0% 13 61.5% 69 4.3% - - - HMMPfam_Ifi-6-16 PPP4R4 57718 genome.wustl.edu 37 14 94696943 94696943 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_058237.1 +1 reviewed p.G105E 1.000 84 0% 57 54.4% 0 - benign(0.002) tolerated(0.3) neutral(0.029) superfamily_ARM repeat PPP4R4 57718 genome.wustl.edu 37 14 94700006 94700006 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_058237.1 +1 reviewed p.V178A 1.000 197 0% 109 46.8% 1 100% possibly_damaging(0.595) deleterious(0.02) deleterious(0.589) superfamily_ARM repeat SERPINA11 256394 genome.wustl.edu 37 14 94914890 94914890 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080451.1 -1 provisional p.F74L 1.000 56 0% 34 44.1% 0 - benign(0.004) tolerated(0.82) neutral(0.001) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA9 327657 genome.wustl.edu 37 14 94933679 94933679 + Silent SNP C C T rs149130980 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175739.3 -1 validated p.K241 0.000 53 0% 35 51.4% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINA12 145264 genome.wustl.edu 37 14 94962747 94962747 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173850.2 -1 provisional p.D290N 0.060 187 0% 114 37.7% 0 - benign(0.356) deleterious(0.02) deleterious(0.496) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA12 145264 genome.wustl.edu 37 14 94964620 94964620 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173850.2 -1 provisional p.W39R 0.000 79 0% 45 44.4% 0 - benign(0.079) tolerated(0.23) neutral(0.047) superfamily_Prot_inh_serpin SERPINA5 5104 genome.wustl.edu 37 14 95054272 95054272 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000624.4 +1 validated p.L191 0.117 41 0% 29 41.4% 3 66.6% - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINA5 5104 genome.wustl.edu 37 14 95054287 95054287 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000624.4 +1 validated p.V196 0.104 47 0% 29 34.5% 2 0% - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINA3 12 genome.wustl.edu 37 14 95081287 95081287 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001085.4 +1 reviewed p.F170S 1.000 74 0% 45 48.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins DICER1 23405 genome.wustl.edu 37 14 95569912 95569912 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030621.3 -1 reviewed p.R1274M 0.000 131 0% 60 35% 8 25% benign(0.017) deleterious(0.03) neutral(0.365) superfamily_RNase_III DICER1 23405 genome.wustl.edu 37 14 95574253 95574253 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030621.3 -1 reviewed p.A872T 1.000 324 0% 157 44.6% 9 55.5% probably_damaging(0.99) tolerated(0.72) neutral(0.443) NULL C14orf49 161176 genome.wustl.edu 37 14 95932292 95932292 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152592.3 -1 validated p.Y201 0.659 61 0% 51 41.2% 0 - - - - superfamily_Spectrin repeat ATG2B 55102 genome.wustl.edu 37 14 96752104 96752104 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018036.5 -1 validated p.H2075 0.053 75 0% 40 42.5% 26 34.6% - - - NULL ATG2B 55102 genome.wustl.edu 37 14 96756790 96756790 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018036.5 -1 validated p.M1947V 1.000 41 0% 15 40% 7 42.8% benign(0.02) tolerated(0.17) neutral(0.060) NULL ATG2B 55102 genome.wustl.edu 37 14 96769450 96769450 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018036.5 -1 validated p.F1662C 1.000 250 0% 150 50% 6 66.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL AK7 122481 genome.wustl.edu 37 14 96924551 96924551 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152327.2 +1 validated e12+2 0.980 69 0% 26 38.5% 0 - - - - - VRK1 7443 genome.wustl.edu 37 14 97321592 97321592 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003384.2 +1 reviewed p.R203Q 1.000 486 0% 202 42.6% 27 81.4% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_Kinase_like VRK1 7443 genome.wustl.edu 37 14 97321652 97321652 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003384.2 +1 reviewed p.G223D 1.000 233 0% 103 42.7% 36 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like VRK1 7443 genome.wustl.edu 37 14 97326983 97326983 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003384.2 +1 reviewed p.G327* 1.000 420 0% 146 46.6% 23 26% - - - superfamily_Kinase_like BCL11B 64919 genome.wustl.edu 37 14 99723922 99723922 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138576.2 -1 reviewed p.E105K 1.000 14 0% 24 58.3% 1 0% benign(0.005) tolerated(0.05) neutral(0.345) NULL SETD3 84193 genome.wustl.edu 37 14 99865085 99865085 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032233.2 -1 validated p.Q572H 0.028 265 0% 159 39% 41 41.4% benign(0.01) deleterious(0.04) neutral(0.349) NULL CCNK 8812 genome.wustl.edu 37 14 99973458 99973458 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099402.1 +1 reviewed p.P364L 1.000 224 0% 170 40.6% 103 45.6% unknown(0) tolerated(0.11) - NULL CCDC85C 317762 genome.wustl.edu 37 14 99988506 99988506 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144995.1 -1 validated p.A313 0.025 28 0% 25 60% 38 39.4% - - - NULL HHIPL1 84439 genome.wustl.edu 37 14 100134587 100134587 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127258.1 +1 validated p.E559 0.632 49 0% 37 29.7% 0 - - - - NULL CYP46A1 10858 genome.wustl.edu 37 14 100158180 100158180 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380228 +1 known p.R45Q 0.937 202 0% 119 47.9% 3 33.3% - - - NULL EML1 2009 genome.wustl.edu 37 14 100363557 100363557 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008707.1 +1 reviewed p.A270 0.214 58 0% 44 40.9% 7 71.4% - - - HMMPfam_HELP EML1 2009 genome.wustl.edu 37 14 100376630 100376630 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008707.1 +1 reviewed p.D450N 1.000 210 0% 119 40.3% 5 40% possibly_damaging(0.565) tolerated(0.07) deleterious(0.512) HMMSmart_WD40,superfamily_WD40_like EML1 2009 genome.wustl.edu 37 14 100406344 100406344 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008707.1 +1 reviewed p.G800 0.052 28 0% 43 48.8% 10 40% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 MIR342 442909 genome.wustl.edu 37 14 100576072 100576072 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000362212 +1 known NULL 1.000 80 0% 59 52.5% 0 - - - - - BEGAIN 57596 genome.wustl.edu 37 14 101006837 101006837 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020836.3 -1 validated p.S144F 1.000 8 0.000 17 0.412 0 - possibly_damaging(0.613) deleterious(0) deleterious(0.657) NULL RTL1 388015 genome.wustl.edu 37 14 101350508 101350508 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134888.2 -1 reviewed p.F206L 0.694 87 0% 88 46.6% 0 - possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL MIR543 100126335 genome.wustl.edu 37 14 101498369 101498369 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390751 +1 known NULL 1.000 355 0% 264 43.6% 0 - - - - - MIR154 406946 genome.wustl.edu 37 14 101526141 101526141 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000385243 +1 known NULL 0.991 270 0% 165 53.9% 0 - - - - - MIR410 574434 genome.wustl.edu 37 14 101532271 101532271 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000362222 +1 known NULL 1.000 114 0% 71 38% 0 - - - - - PPP2R5C 5527 genome.wustl.edu 37 14 102391579 102391579 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002719.3 +1 reviewed p.A515 0.995 11 0% 16 25% 19 47.3% - - - NULL DYNC1H1 1778 genome.wustl.edu 37 14 102483797 102483797 + Silent SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001376.4 +1 reviewed p.A2711 0.991 129 0% 99 46.5% 36 16.6% - - - HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 DYNC1H1 1778 genome.wustl.edu 37 14 102499638 102499638 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001376.4 +1 reviewed p.E3410D 1.000 90 0% 53 17% 75 5.3% benign(0.01) tolerated(0.45) neutral(0.013) NULL DYNC1H1 1778 genome.wustl.edu 37 14 102505514 102505514 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001376.4 +1 reviewed p.E3795* 1.000 36 0% 41 51.2% 114 13.1% - - - NULL HSP90AA1 3320 genome.wustl.edu 37 14 102551127 102551127 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017963.2 -1 validated p.N413S 1.000 688 0% 427 43.8% 664 45.1% possibly_damaging(0.857) deleterious(0) deleterious(0.776) HMMPfam_HSP90 MOK 5891 genome.wustl.edu 37 14 102698893 102698893 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014226.1 -1 provisional p.H282R 1.000 101 0% 96 47.9% 10 60% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNF839 55778 genome.wustl.edu 37 14 102792616 102792616 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018335.3 +1 validated p.A195S 0.004 35 2.9% 41 41.5% 4 50% possibly_damaging(0.677) tolerated(0.14) deleterious(0.490) NULL ZNF839 55778 genome.wustl.edu 37 14 102798056 102798056 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018335.3 +1 validated p.A430V 0.000 49 0% 27 44.4% 7 28.5% benign(0.1) tolerated(0.27) neutral(0.041) NULL TECPR2 9895 genome.wustl.edu 37 14 102901144 102901144 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014844.3 +1 validated p.L664 0.002 11 0% 17 64.7% 7 42.8% - - - NULL CDC42BPB 9578 genome.wustl.edu 37 14 103418911 103418911 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006035.3 -1 reviewed p.S1032 1.000 90 0% 74 44.6% 83 51.8% - - - HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 MARK3 4140 genome.wustl.edu 37 14 103941462 103941462 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128918.1 +1 validated p.A466D 0.476 79 0% 46 34.8% 48 58.3% benign(0) tolerated(0.12) neutral(0.261) NULL MARK3 4140 genome.wustl.edu 37 14 103958316 103958316 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128918.1 +1 validated p.R597* 1.000 77 0% 65 50.8% 40 17.5% - - - NULL MARK3 4140 genome.wustl.edu 37 14 103969222 103969222 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128918.1 +1 validated p.R640 1.000 77 0% 39 28.2% 57 22.8% - - - superfamily_Kinase associated domain 1 KA1 ASPG 374569 genome.wustl.edu 37 14 104561877 104561877 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080464.1 +1 provisional p.E105K 0.459 25 0% 17 52.9% 0 - benign(0.004) tolerated(0.33) neutral(0.024) HMMPfam_Asparaginase,superfamily_Glutaminase/Asparaginase INF2 64423 genome.wustl.edu 37 14 105175987 105175987 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022489.3 +1 validated p.R695* 0.027 2 0.000 11 0.727 36 13.8% - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) ADSSL1 122622 genome.wustl.edu 37 14 105209467 105209467 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199165.1 +1 validated p.R381C 1.000 21 0% 19 26.3% 18 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adenylsucc_synt,HMMSmart_Adenylsucc_synt,superfamily_SSF52540 KIAA0284 283638 genome.wustl.edu 37 14 105344260 105344260 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001112726.1 +1 validated p.Y78 1.000 19 0% 29 62.1% 42 52.3% - - - HMMPfam_FHA,superfamily_SMAD_FHA AHNAK2 113146 genome.wustl.edu 37 14 105405237 105405237 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138420.2 -1 validated p.G5517 0.903 116 0% 81 23.5% 12 16.6% - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105407765 105407765 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138420.2 -1 validated p.G4675S 0.000 84 0% 40 40% 13 46.1% probably_damaging(0.985) tolerated(0.49) neutral(0.443) NULL AHNAK2 113146 genome.wustl.edu 37 14 105408450 105408450 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138420.2 -1 validated p.E4446D 0.000 62 0% 79 41.8% 10 60% benign(0.042) tolerated(0.27) neutral(0.036) NULL AHNAK2 113146 genome.wustl.edu 37 14 105410997 105410997 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138420.2 -1 validated p.V3597 0.018 59 0% 70 40% 7 71.4% - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105411354 105411354 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138420.2 -1 validated p.F3478 1.000 102 0% 85 41.2% 7 57.1% - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105414255 105414255 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138420.2 -1 validated p.P2511 0.033 46 0% 74 36.5% 1 0% - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105416895 105416895 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138420.2 -1 validated p.P1631 0.000 86 0% 85 42.4% 3 66.6% - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105420401 105420401 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138420.2 -1 validated p.A463T 0.008 32 0% 36 47.2% 6 83.3% benign(0.29) deleterious(0) deleterious(0.534) NULL AHNAK2 113146 genome.wustl.edu 37 14 105421098 105421098 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138420.2 -1 validated p.T230 0.000 22 0% 21 42.9% 6 33.3% - - - NULL BRF1 2972 genome.wustl.edu 37 14 105677502 105677502 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001519.2 -1 reviewed p.D651 0.775 15 0% 14 28.6% 64 12.5% - - - NULL BRF1 2972 genome.wustl.edu 37 14 105739058 105739058 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001519.2 -1 reviewed p.H147Y 0.999 7 0.000 14 0.357 25 36% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_TFIIB PACS2 23241 genome.wustl.edu 37 14 105859581 105859581 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100913.1 +1 validated p.A824 0.946 28 0% 20 70% 98 50% - - - HMMPfam_Pacs-1 MTA1 9112 genome.wustl.edu 37 14 105924658 105924658 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004689.3 +1 reviewed p.A201V 0.974 8 0.000 11 0.455 118 53.3% benign(0.124) deleterious(0) neutral(0.455) HMMPfam_ELM2 IGHD 3495 genome.wustl.edu 37 14 106307519 106307519 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390556 -1 known p.*173 0.008 15 0% 12 50% 2 0% benign(0.001) tolerated(0.37) neutral(0.019) superfamily_Immunoglobulin IGHD 3495 genome.wustl.edu 37 14 106311962 106311962 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390556 -1 known p.T17A 0.000 95 0% 104 37.5% 1 0% unknown(0) deleterious(0.05) - HMMPfam_C1-set,superfamily_Immunoglobulin IGHM 3507 genome.wustl.edu 37 14 106320562 106320562 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390558 -1 known p.P412L 0.157 30 0% 26 42.3% 125 0.8% - - - PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin IGHM 3507 genome.wustl.edu 37 14 106321299 106321299 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390558 -1 known p.P226H 0.000 79 0% 92 60.9% 157 0% - - - HMMPfam_C1-set,superfamily_Immunoglobulin IGHJ3 28479 genome.wustl.edu 37 14 106330825 106330825 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000463911 -1 known p.G7 0.992 93 0% 89 40.4% 49 0% - - - NULL IGHV6-1 28385 genome.wustl.edu 37 14 106405813 106405813 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390593 -1 known p.A54D 0.000 78 0% 70 45.7% 5 0% probably_damaging(0.973) deleterious(0.02) deleterious(0.798) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV4-31 28396 genome.wustl.edu 37 14 106805600 106805600 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000438142 -1 known p.R15S 0.004 789 0% 606 11.7% 17 0% probably_damaging(0.977) tolerated(0.63) neutral(0.422) NULL IGHV3-33 28434 genome.wustl.edu 37 14 106815884 106815884 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390615 -1 known p.G63 0.996 517 0% 371 22.6% 9 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV3-49 28423 genome.wustl.edu 37 14 107013129 107013129 + Missense_Mutation SNP A A G rs2073674 byCluster;byFrequency;by2Hit2Allele;byHapMap;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390625 -1 known p.F56L 0.999 106 0% 69 39.1% 0 - benign(0) deleterious(0.02) neutral(0.383) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV5-51 28388 genome.wustl.edu 37 14 107034966 107034966 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390626 -1 known p.K38N 0.000 26 0% 23 47.8% 2 0% benign(0.259) deleterious(0.01) neutral(0.433) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 ENSG00000215407 0 genome.wustl.edu 37 15 20434029 20434029 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000400226 -1 known p.I531 0.998 198 0% 114 19.3% 0 - - - - NULL GOLGA6L6 727832 genome.wustl.edu 37 15 20739697 20739697 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145004.1 -1 inferred p.R685W 0.760 17 0% 21 57.1% 0 - unknown(0) deleterious(0.05) - NULL OR4M2 390538 genome.wustl.edu 37 15 22369069 22369069 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004719.2 +1 validated p.R165Q 0.012 537 0% 165 27.9% 0 - benign(0.242) tolerated(1) neutral(0.025) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4N4 283694 genome.wustl.edu 37 15 22383369 22383369 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005241.1 +1 provisional p.K299 0.998 96 0% 43 11.6% 0 - - - - superfamily_SSF81321 CYFIP1 23191 genome.wustl.edu 37 15 22935949 22935949 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014608.2 +1 validated p.I295 0.130 319 0% 203 44.3% 51 49% - - - HMMPfam_FragX_IP ENSG00000140181 0 genome.wustl.edu 37 15 23300085 23300085 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000454333 -1 known p.P64H 0.994 14 0% 19 36.8% 54 37% - - - NULL ENSG00000223681 0 genome.wustl.edu 37 15 23326296 23326296 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000422607 -1 known p.I171M 1.000 209 0% 121 22.3% 4 50% benign(0.427) tolerated(0.17) neutral(0.198) NULL LOC653061 653061 genome.wustl.edu 37 15 23605922 23605922 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343324.1 +1 model p.E282D 0.873 314 0% 181 43.1% 0 - - - - NULL MAGEL2 54551 genome.wustl.edu 37 15 23889185 23889185 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019066.4 -1 reviewed p.T632 0.000 38 0% 34 47.1% 0 - - - - NULL MAGEL2 54551 genome.wustl.edu 37 15 23890195 23890195 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019066.4 -1 reviewed p.R296C 0.000 58 0% 68 52.9% 0 - benign(0) tolerated(0.3) neutral(0.029) NULL C15orf2 23742 genome.wustl.edu 37 15 24924140 24924140 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018958.2 +1 reviewed p.Q1042 0.000 30 0% 38 34.2% 0 - - - - NULL ATP10A 57194 genome.wustl.edu 37 15 25953381 25953381 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024490.3 -1 reviewed p.A804V 1.000 83 0% 76 47.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF56784,superfamily_SSF81660 ATP10A 57194 genome.wustl.edu 37 15 25963534 25963534 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024490.3 -1 reviewed p.A459V 1.000 5 0.000 11 0.545 0 - possibly_damaging(0.446) tolerated(0.09) neutral(0.443) superfamily_SSF56784 GABRA5 2558 genome.wustl.edu 37 15 27128556 27128556 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000810.3 +1 reviewed p.R117C 1.000 59 0% 36 11.1% 0 - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD OCA2 4948 genome.wustl.edu 37 15 28000554 28000554 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000275.2 -1 reviewed p.V833M 0.283 177 0% 95 45.3% 1 0% probably_damaging(0.986) tolerated(0.07) deleterious(0.754) NULL HERC2 8924 genome.wustl.edu 37 15 28362399 28362399 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000429795 -1 known p.G81S 0.000 6 0.000 11 0.455 1 0% - - - NULL HERC2 8924 genome.wustl.edu 37 15 28366536 28366536 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004667.4 -1 reviewed p.R4410C 1.000 79 0% 58 41.4% 21 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HERC2 8924 genome.wustl.edu 37 15 28369219 28369219 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004667.4 -1 reviewed p.F4384 0.999 79 1.3% 53 39.6% 19 52.6% - - - NULL HERC2 8924 genome.wustl.edu 37 15 28397830 28397830 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004667.4 -1 reviewed p.K3631N 0.999 43 0% 32 53.1% 20 55% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL HERC2 8924 genome.wustl.edu 37 15 28419642 28419642 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004667.4 -1 reviewed p.S3319F 0.998 49 0% 31 29% 8 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC2 8924 genome.wustl.edu 37 15 28436304 28436304 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004667.4 -1 reviewed p.P2846 0.221 227 0% 107 17.8% 11 18.1% - - - superfamily_Galactose-binding domain-like HERC2 8924 genome.wustl.edu 37 15 28474704 28474704 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004667.4 -1 reviewed p.T1674 0.149 291 0% 177 41.2% 4 50% - - - NULL HERC2 8924 genome.wustl.edu 37 15 28501325 28501325 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004667.4 -1 reviewed p.A886T 0.998 8 0.000 11 0.364 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LOC728310 728310 genome.wustl.edu 37 15 29092235 29092235 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_078490.1 -1 model NULL 0.053 14 0% 11 45.5% 0 - - - - - APBA2 321 genome.wustl.edu 37 15 29393984 29393984 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005503.3 +1 reviewed p.E507D 1.000 28 0% 25 44% 13 53.8% possibly_damaging(0.845) tolerated(0.26) neutral(0.358) HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 TJP1 7082 genome.wustl.edu 37 15 29997787 29997787 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003257.3 -1 validated p.I1671 1.000 126 0% 64 45.3% 35 31.4% - - - HMMPfam_ZU5,HMMSmart_SM00218 TJP1 7082 genome.wustl.edu 37 15 30012584 30012584 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003257.3 -1 validated p.G914E 1.000 281 0% 137 46% 15 53.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ARHGAP11B 89839 genome.wustl.edu 37 15 30926531 30926531 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039841.1 +1 provisional p.K152N 0.996 351 0% 182 47.8% 4 75% possibly_damaging(0.655) deleterious(0.02) deleterious(0.614) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP LOC100288637 100288637 genome.wustl.edu 37 15 31042657 31042657 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343359.1 +1 model p.A17S 1.000 47 0% 39 20.5% 1 0% - - - NULL MTMR10 54893 genome.wustl.edu 37 15 31269066 31269066 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017762.2 -1 validated p.N72D 1.000 330 0% 119 46.2% 5 60% probably_damaging(0.99) tolerated(0.21) deleterious(0.485) superfamily_PH domain-like TRPM1 4308 genome.wustl.edu 37 15 31294220 31294220 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002420.4 -1 reviewed p.P1539 0.058 236 0% 122 12.3% 0 - - - - NULL TRPM1 4308 genome.wustl.edu 37 15 31294496 31294496 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002420.4 -1 reviewed p.K1447N 0.518 91 0% 64 32.8% 0 - benign(0.083) deleterious(0.03) neutral(0.370) NULL TRPM1 4308 genome.wustl.edu 37 15 31294929 31294929 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002420.4 -1 reviewed p.S1303F 1.000 122 0% 72 38.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TRPM1 4308 genome.wustl.edu 37 15 31295230 31295230 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002420.4 -1 reviewed p.E1203K 1.000 49 0% 35 34.3% 0 - probably_damaging(0.957) tolerated(0.07) deleterious(0.720) NULL OTUD7A 161725 genome.wustl.edu 37 15 31776536 31776536 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130901.1 -1 provisional p.T581M 1.000 11 0% 12 33.3% 2 0% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) NULL OTUD7A 161725 genome.wustl.edu 37 15 31779425 31779425 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130901.1 -1 provisional p.T441M 1.000 43 0% 32 34.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL OTUD7A 161725 genome.wustl.edu 37 15 31822981 31822981 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130901.1 -1 provisional p.T194M 0.980 73 0% 60 23.3% 0 - possibly_damaging(0.87) tolerated(0.1) deleterious(0.625) NULL ARHGAP11A 9824 genome.wustl.edu 37 15 32917393 32917393 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014783.3 +1 validated p.R222* 0.973 217 0% 107 44.9% 9 11.1% - - - HMMSmart_RhoGAP,superfamily_Rho_GAP ARHGAP11A 9824 genome.wustl.edu 37 15 32929649 32929649 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014783.3 +1 validated p.S892Y 0.003 137 0% 92 47.8% 15 26.6% possibly_damaging(0.873) deleterious(0.02) deleterious(0.722) NULL FMN1 342184 genome.wustl.edu 37 15 33359153 33359153 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001103184.2 -1 validated p.T311 0.986 38 0% 23 39.1% 1 0% - - - NULL RYR3 6263 genome.wustl.edu 37 15 33895487 33895487 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001036.3 +1 validated p.G696C 1.000 119 0% 70 31.4% 1 100% probably_damaging(1) - - HMMPfam_SPRY,HMMSmart_SM00449 RYR3 6263 genome.wustl.edu 37 15 33922217 33922217 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001036.3 +1 validated p.N919S 1.000 338 0% 134 10.4% 0 - possibly_damaging(0.95) - - HMMPfam_RyR RYR3 6263 genome.wustl.edu 37 15 34119425 34119425 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001036.3 +1 validated p.Q3757H 1.000 51 0% 35 28.6% 2 50% probably_damaging(0.999) - - HMMPfam_RIH_assoc RYR3 6263 genome.wustl.edu 37 15 34130272 34130272 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001036.3 +1 validated p.R4031C 0.997 68 0% 54 48.1% 0 - probably_damaging(1) - - NULL RYR3 6263 genome.wustl.edu 37 15 34147073 34147073 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001036.3 +1 validated p.L4656P 0.989 196 0% 136 16.9% 2 0% probably_damaging(0.998) - - HMMPfam_Ion_trans PGBD4 161779 genome.wustl.edu 37 15 34395939 34395939 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152595.4 +1 validated p.T403S 0.094 66 0% 64 45.3% 0 - possibly_damaging(0.789) tolerated(0.99) neutral(0.296) NULL PGBD4 161779 genome.wustl.edu 37 15 34395982 34395982 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152595.4 +1 validated p.R417M 0.041 48 0% 51 13.7% 1 0% benign(0.163) deleterious(0) neutral(0.459) NULL SLC12A6 9990 genome.wustl.edu 37 15 34528258 34528258 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133647.1 -1 reviewed p.A1062V 1.000 200 0% 116 47.4% 11 36.3% benign(0) tolerated(0.32) neutral(0.024) NULL SLC12A6 9990 genome.wustl.edu 37 15 34536247 34536247 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133647.1 -1 reviewed p.V657A 1.000 166 0% 79 16.5% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AA_permease LPCAT4 254531 genome.wustl.edu 37 15 34651801 34651801 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153613.2 -1 validated p.G463D 1.000 12 0% 14 28.6% 55 18.1% possibly_damaging(0.804) tolerated(0.63) neutral(0.306) NULL LPCAT4 254531 genome.wustl.edu 37 15 34657824 34657824 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153613.2 -1 validated p.A65T 1.000 70 0% 58 20.7% 13 7.6% probably_damaging(0.967) deleterious(0.04) deleterious(0.758) NULL AQR 9716 genome.wustl.edu 37 15 35155083 35155083 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014691.2 -1 validated p.F1338 1.000 200 0% 57 29.8% 19 47.3% - - - NULL ZNF770 54989 genome.wustl.edu 37 15 35275308 35275308 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014106.2 -1 validated p.N110H 1.000 181 0% 69 37.7% 8 37.5% benign(0.02) tolerated(0.12) neutral(0.262) superfamily_SSF57667 TMCO5A 145942 genome.wustl.edu 37 15 38234435 38234435 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152453.2 +1 provisional p.A183V 0.989 306 0% 78 39.7% 0 - benign(0.006) tolerated(1) - NULL SPRED1 161742 genome.wustl.edu 37 15 38643813 38643813 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152594.2 +1 reviewed p.R428H 1.000 59 1.7% 20 30% 27 44.4% unknown(0) tolerated(0.57) - HMMPfam_Sprouty FAM98B 283742 genome.wustl.edu 37 15 38762459 38762459 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173611.2 +1 validated p.Q128H 1.000 152 1.3% 34 32.4% 20 55% possibly_damaging(0.801) deleterious(0.02) deleterious(0.684) HMMPfam_DUF2465 RASGRP1 10125 genome.wustl.edu 37 15 38818585 38818585 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005739.3 -1 reviewed p.R81* 1.000 154 0% 52 34.6% 1 0% - - - HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF THBS1 7057 genome.wustl.edu 37 15 39885651 39885651 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003246.2 +1 reviewed p.E1017K 1.000 81 0% 60 40% 14 0% benign(0.158) tolerated(0.11) neutral(0.286) HMMPfam_TSP_C,superfamily_Concanavalin A-like lectins/glucanases FSIP1 161835 genome.wustl.edu 37 15 40018812 40018812 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152597.4 -1 validated p.R343I 0.002 166 0% 75 54.7% 0 - probably_damaging(0.981) tolerated(0.11) deleterious(0.697) NULL FSIP1 161835 genome.wustl.edu 37 15 40034088 40034088 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152597.4 -1 validated p.E191D 0.001 353 0% 134 36.6% 0 - benign(0.14) tolerated(0.17) neutral(0.071) NULL PLCB2 5330 genome.wustl.edu 37 15 40590454 40590454 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004573.2 -1 validated p.G375 0.999 23 0% 37 48.6% 0 - - - - HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases BAHD1 22893 genome.wustl.edu 37 15 40752064 40752064 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014952.3 +1 validated p.G467 0.976 21 0% 30 40% 12 41.6% - - - NULL BAHD1 22893 genome.wustl.edu 37 15 40754326 40754326 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014952.3 +1 validated p.R550C 1.000 9 0.000 13 0.308 20 45% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BAHD1 22893 genome.wustl.edu 37 15 40754425 40754425 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014952.3 +1 validated p.R583C 0.024 6 0.000 6 0.667 13 61.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C15orf62 643338 genome.wustl.edu 37 15 41062839 41062839 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130448.2 +1 validated p.R49Q 0.974 22 0% 12 33.3% 1 0% possibly_damaging(0.516) deleterious(0) deleterious(0.618) NULL VPS18 57617 genome.wustl.edu 37 15 41192066 41192066 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020857.2 +1 reviewed p.T350 0.002 10 0% 18 44.4% 14 35.7% - - - HMMPfam_Pep3_Vps18 DLL4 54567 genome.wustl.edu 37 15 41228944 41228944 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019074.2 +1 reviewed p.N587H 1.000 26 0% 19 63.2% 8 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL INO80 54617 genome.wustl.edu 37 15 41339650 41339650 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017553.1 -1 reviewed p.S897 0.973 248 0% 105 37.1% 8 62.5% - - - NULL FAM92A1P1 729073 genome.wustl.edu 37 15 41456206 41456206 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000287660 +1 known p.Q179H 0.998 244 0% 161 42.2% 13 0% - - - HMMPfam_DUF1208 NUSAP1 51203 genome.wustl.edu 37 15 41667960 41667960 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016359.3 +1 validated p.N353D 0.023 390 0% 192 20.3% 64 18.7% benign(0.132) tolerated(0.26) neutral(0.045) NULL RTF1 23168 genome.wustl.edu 37 15 41758373 41758373 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015138.4 +1 validated p.R271Q 1.000 193 0% 118 45.8% 28 46.4% probably_damaging(0.998) tolerated(0.59) deleterious(0.479) NULL RPAP1 26015 genome.wustl.edu 37 15 41822148 41822148 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015540.2 -1 reviewed p.E325* 1.000 26 0% 24 16.7% 12 0% - - - NULL MGA 23269 genome.wustl.edu 37 15 41991100 41991100 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080541.2 +1 validated p.E685* 1.000 155 0% 84 47.6% 2 50% - - - NULL MGA 23269 genome.wustl.edu 37 15 42003031 42003031 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080541.2 +1 validated p.Q856 1.000 228 0% 125 12% 3 33.3% - - - NULL MGA 23269 genome.wustl.edu 37 15 42028385 42028385 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080541.2 +1 validated p.S1308N 1.000 82 0% 49 44.9% 2 50% benign(0.01) deleterious(0) neutral(0.445) NULL MGA 23269 genome.wustl.edu 37 15 42041535 42041535 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080541.2 +1 validated p.Q1959 0.390 164 0% 71 9.9% 3 66.6% - - - NULL MGA 23269 genome.wustl.edu 37 15 42058209 42058209 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080541.2 +1 validated p.D2692 0.993 66 0% 33 33.3% 9 77.7% - - - NULL MAPKBP1 23005 genome.wustl.edu 37 15 42104718 42104718 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128608.1 +1 validated p.N168S 1.000 59 0% 41 58.5% 5 40% benign(0.018) tolerated(0.08) neutral(0.300) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MAPKBP1 23005 genome.wustl.edu 37 15 42107505 42107505 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128608.1 +1 validated p.S413P 1.000 58 0% 60 36.7% 4 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 JMJD7 100137047 genome.wustl.edu 37 15 42129292 42129292 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114632.1 +1 validated p.D297N 1.000 56 1.8% 67 35.8% 24 45.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00558,superfamily_Clavaminate synthase-like JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42131206 42131206 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_015346.1 +1 validated NULL 0.000 15 0% 20 45% 3 33.3% - - - - JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42133048 42133048 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005090.3 +1 validated p.A330V 0.403 54 0% 82 45.1% 18 33.3% benign(0) tolerated(1) - HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SPTBN5 51332 genome.wustl.edu 37 15 42144455 42144455 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016642.2 -1 validated p.S3468 0.000 19 0% 13 38.5% 9 66.6% - - - HMMSmart_SM00150 PLA2G4D 283748 genome.wustl.edu 37 15 42361087 42361087 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178034.3 -1 validated p.G761 0.000 10 0% 10 50% 1 100% - - - superfamily_FabD/lysophospholipase-like PLA2G4D 283748 genome.wustl.edu 37 15 42363440 42363440 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178034.3 -1 validated p.A586V 0.928 13 0% 14 50% 0 - benign(0.025) deleterious(0.03) neutral(0.365) HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like PLA2G4D 283748 genome.wustl.edu 37 15 42363662 42363662 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178034.3 -1 validated p.K554T 0.202 39 0% 51 43.1% 0 - benign(0.01) tolerated(0.28) neutral(0.032) HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like GANC 2595 genome.wustl.edu 37 15 42622813 42622813 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198141.2 +1 reviewed p.G562W 1.000 355 0% 127 40.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases GANC 2595 genome.wustl.edu 37 15 42630590 42630590 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198141.2 +1 reviewed p.A582V 1.000 109 0% 44 38.6% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases CAPN3 825 genome.wustl.edu 37 15 42681142 42681142 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000070.2 +1 reviewed p.E217K 1.000 82 0% 43 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases ZFP106 64397 genome.wustl.edu 37 15 42729518 42729518 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022473.1 -1 provisional p.H1530R 1.000 327 0% 178 38.2% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 ZFP106 64397 genome.wustl.edu 37 15 42731344 42731344 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022473.1 -1 provisional p.K1454N 0.992 466 0% 218 44% 11 27.2% benign(0.025) deleterious(0.02) neutral(0.384) NULL LRRC57 255252 genome.wustl.edu 37 15 42839521 42839521 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153260.2 -1 validated p.R144* 1.000 90 0% 49 36.7% 9 33.3% - - - HMMPfam_LRR_1,superfamily_SSF52058 STARD9 57519 genome.wustl.edu 37 15 42973735 42973735 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001129482.3 +1 model p.I616L 0.037 36 0% 38 44.7% 1 0% benign(0.144) - - NULL STARD9 57519 genome.wustl.edu 37 15 42984415 42984415 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001129482.3 +1 model p.N3461H 0.034 26 0% 17 29.4% 3 0% possibly_damaging(0.745) - - NULL STARD9 57519 genome.wustl.edu 37 15 42985145 42985145 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001129482.3 +1 model p.T3704I 0.000 50 0% 31 54.8% 0 - possibly_damaging(0.846) - - NULL STARD9 57519 genome.wustl.edu 37 15 42985380 42985380 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001129482.3 +1 model p.G3782 0.000 59 0% 41 36.6% 2 50% - - - NULL STARD9 57519 genome.wustl.edu 37 15 43010377 43010377 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001129482.3 +1 model p.V4502M 1.000 21 0% 20 35% 3 33.3% probably_damaging(0.981) - - superfamily_Bet v1-like CDAN1 146059 genome.wustl.edu 37 15 43021251 43021251 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138477.2 -1 reviewed p.R872I 1.000 88 0% 54 46.3% 7 14.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL UBR1 197131 genome.wustl.edu 37 15 43296048 43296048 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174916.2 -1 reviewed p.V1166M 0.996 104 0% 67 44.8% 5 40% benign(0.198) tolerated(0.1) neutral(0.305) NULL UBR1 197131 genome.wustl.edu 37 15 43318806 43318806 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174916.2 -1 reviewed p.D830Y 1.000 530 0.2% 194 36.1% 5 80% possibly_damaging(0.819) deleterious(0.01) deleterious(0.715) NULL UBR1 197131 genome.wustl.edu 37 15 43347006 43347006 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174916.2 -1 reviewed p.K458T 1.000 401 0% 173 37.6% 9 55.5% benign(0.046) tolerated(0.28) neutral(0.034) NULL TGM7 116179 genome.wustl.edu 37 15 43574124 43574124 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052955.2 -1 validated p.S423 0.000 32 0% 41 63.4% 1 100% - - - superfamily_SSF54001 LCMT2 9836 genome.wustl.edu 37 15 43621880 43621880 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014793.3 -1 reviewed p.D270N 1.000 15 0% 18 55.6% 4 25% benign(0.09) tolerated(0.2) neutral(0.056) HMMPfam_LCM,superfamily_SSF53335 ZSCAN29 146050 genome.wustl.edu 37 15 43656579 43656579 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152455.3 -1 validated p.G408 1.000 33 0% 24 33.3% 5 40% - - - NULL ZSCAN29 146050 genome.wustl.edu 37 15 43658653 43658653 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152455.3 -1 validated p.R293W 1.000 48 0% 44 18.2% 4 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MAP1A 4130 genome.wustl.edu 37 15 43818161 43818161 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002373.5 +1 reviewed p.K1497T 0.000 116 0% 91 22% 1 100% benign(0.079) deleterious(0.02) neutral(0.389) NULL MAP1A 4130 genome.wustl.edu 37 15 43818871 43818871 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002373.5 +1 reviewed p.P1734T 0.793 22 0% 22 22.7% 2 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CATSPER2 117155 genome.wustl.edu 37 15 43940191 43940191 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172095.1 -1 reviewed p.I23 0.993 68 0% 54 20.4% 1 100% - - - NULL PDIA3 2923 genome.wustl.edu 37 15 44061728 44061728 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005313.4 +1 reviewed p.E384* 1.000 728 0% 339 43.7% 173 2.3% - - - superfamily_Thioredoxin-like,HMMPfam_Thioredoxin SERINC4 619189 genome.wustl.edu 37 15 44088416 44088416 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000299969 -1 known p.P285H 0.998 160 0% 103 50.5% 1 0% benign(0.001) tolerated(0.09) neutral(0.296) NULL CASC4 113201 genome.wustl.edu 37 15 44695087 44695087 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138423.2 +1 reviewed p.R359* 1.000 138 0% 66 53% 23 13% - - - NULL CTDSPL2 51496 genome.wustl.edu 37 15 44776447 44776447 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016396.2 +1 validated p.R71Q 1.000 288 0% 114 50% 10 20% possibly_damaging(0.754) tolerated(0.3) neutral(0.307) NULL SPG11 80208 genome.wustl.edu 37 15 44881584 44881584 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025137.3 -1 reviewed p.P1591H 0.001 68 0% 48 45.8% 9 22.2% benign(0.123) tolerated(0.33) neutral(0.034) NULL SPG11 80208 genome.wustl.edu 37 15 44891005 44891005 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025137.3 -1 reviewed p.V1239A 0.000 141 0.7% 81 37% 10 60% benign(0.013) tolerated(0.89) neutral(0.001) NULL SPG11 80208 genome.wustl.edu 37 15 44921531 44921531 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025137.3 -1 reviewed p.S597 0.997 368 0% 159 34% 6 50% - - - NULL SPG11 80208 genome.wustl.edu 37 15 44951472 44951472 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025137.3 -1 reviewed p.S158P 1.000 232 0% 99 41.4% 5 20% probably_damaging(1) tolerated(0.22) deleterious(0.542) NULL PATL2 197135 genome.wustl.edu 37 15 44960623 44960623 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145112.1 -1 validated p.E428K 0.967 167 0% 98 91.8% 0 - benign(0.007) tolerated(0.73) neutral(0.002) HMMPfam_PAT1 SORD 6652 genome.wustl.edu 37 15 45357548 45357548 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003104.4 +1 validated p.G169R 1.000 69 0% 39 43.6% 37 5.4% possibly_damaging(0.443) tolerated(0.14) neutral(0.394) superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains SORD 6652 genome.wustl.edu 37 15 45360378 45360378 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003104.4 +1 validated e6-1 1.000 179 0% 130 35.4% 0 - - - - - DUOX2 50506 genome.wustl.edu 37 15 45388081 45388081 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014080.4 -1 reviewed p.R1342H 0.999 34 0% 27 40.7% 0 - possibly_damaging(0.73) tolerated(0.11) deleterious(0.538) HMMPfam_FAD_binding_8,superfamily_Riboflavin synthase domain-like DUOX2 50506 genome.wustl.edu 37 15 45399567 45399567 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014080.4 -1 reviewed p.P557S 0.577 80 0% 55 34.5% 1 0% benign(0) tolerated(0.56) neutral(0.006) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases DUOXA2 405753 genome.wustl.edu 37 15 45406943 45406943 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207581.3 +1 reviewed p.G47D 1.000 79 0% 66 39.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DuoxA DUOXA1 90527 genome.wustl.edu 37 15 45413285 45413285 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144565.2 -1 provisional p.G114R 1.000 30 0% 33 45.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DuoxA DUOX1 53905 genome.wustl.edu 37 15 45430172 45430172 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017434.3 +1 reviewed p.S358F 0.998 43 0% 40 57.5% 1 0% benign(0.001) tolerated(0.45) neutral(0.012) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases GATM 2628 genome.wustl.edu 37 15 45658378 45658378 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001482.2 -1 reviewed p.R282C 1.000 169 0% 104 52.9% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidinotransf,superfamily_Pentein SPATA5L1 79029 genome.wustl.edu 37 15 45702632 45702632 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024063.2 +1 validated p.P446 0.467 402 0% 171 40.4% 6 33.3% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases PLDN 26258 genome.wustl.edu 37 15 45895322 45895322 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012388.2 +1 reviewed p.D83 0.897 384 0% 122 37.7% 8 12.5% - - - NULL SQRDL 58472 genome.wustl.edu 37 15 45954319 45954319 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021199.2 +1 provisional p.E134G 1.000 70 0% 55 36.4% 29 41.3% benign(0.004) tolerated(0.39) neutral(0.016) HMMPfam_Pyr_redox_2,superfamily_SSF51905 SEMA6D 80031 genome.wustl.edu 37 15 48057119 48057119 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153618.1 +1 reviewed p.G431 0.979 109 0% 43 18.6% 1 0% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6D 80031 genome.wustl.edu 37 15 48058065 48058065 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153618.1 +1 reviewed e13-1 1.000 155 0% 51 41.2% 0 - - - - - SLC24A5 283652 genome.wustl.edu 37 15 48413266 48413266 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_205850.2 +1 reviewed p.W9G 0.018 30 0% 18 38.9% 0 - possibly_damaging(0.78) deleterious(0) deleterious(0.736) NULL MYEF2 50804 genome.wustl.edu 37 15 48435178 48435178 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016132.3 -1 validated p.K577T 1.000 465 0% 173 45.7% 13 53.8% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SLC12A1 6557 genome.wustl.edu 37 15 48500038 48500038 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000338.2 +1 reviewed p.D41G 1.000 174 0% 80 35% 0 - benign(0.268) tolerated(0.08) neutral(0.329) NULL SLC12A1 6557 genome.wustl.edu 37 15 48518752 48518752 + Silent SNP C C T rs141106709 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000338.2 +1 reviewed p.N236 1.000 328 0% 126 43.7% 0 - - - - HMMPfam_AA_permease SLC12A1 6557 genome.wustl.edu 37 15 48521466 48521466 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000338.2 +1 reviewed p.A269T 1.000 341 0% 161 40.4% 0 - benign(0.202) tolerated(0.2) neutral(0.069) HMMPfam_AA_permease SLC12A1 6557 genome.wustl.edu 37 15 48593527 48593527 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000338.2 +1 reviewed p.R1038* 1.000 138 0.7% 76 47.4% 0 - - - - NULL FBN1 2200 genome.wustl.edu 37 15 48725105 48725105 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000138.4 -1 reviewed p.P2233S 1.000 108 0% 34 38.2% 6 16.6% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48741037 48741037 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000138.4 -1 reviewed p.D1867N 1.000 230 0% 63 57.1% 6 16.6% probably_damaging(1) tolerated(0.7) deleterious(0.502) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48741073 48741073 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000138.4 -1 reviewed p.E1855* 1.000 197 0.5% 56 26.8% 4 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin CEP152 22995 genome.wustl.edu 37 15 49033889 49033889 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014985.2 -1 provisional p.K1278N 1.000 408 0% 240 48.7% 3 33.3% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL SHC4 399694 genome.wustl.edu 37 15 49127057 49127057 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203349.3 -1 validated p.R549Q 1.000 109 0% 72 37.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain SECISBP2L 9728 genome.wustl.edu 37 15 49292062 49292062 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014701.2 -1 provisional p.V746I 1.000 103 0% 41 41.5% 15 53.3% probably_damaging(0.974) tolerated(0.1) deleterious(0.702) HMMPfam_Ribosomal_L7Ae,superfamily_SSF55315 SLC27A2 11001 genome.wustl.edu 37 15 50474951 50474951 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003645.3 +1 reviewed p.L109 0.996 5 0.000 20 0.500 2 50% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like HDC 3067 genome.wustl.edu 37 15 50535043 50535043 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002112.2 -1 validated p.R468Q 0.295 23 0% 19 68.4% 0 - benign(0.001) tolerated(0.54) neutral(0.007) superfamily_PyrdxlP-dep_Trfase_major GABPB1 2553 genome.wustl.edu 37 15 50570858 50570858 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005254.5 -1 reviewed p.R387C 0.697 473 0% 199 40.2% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GABPB1 2553 genome.wustl.edu 37 15 50593480 50593480 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005254.5 -1 reviewed p.G186E 1.000 292 0% 161 17.4% 23 8.6% possibly_damaging(0.659) tolerated(0.2) neutral(0.282) NULL USP8 9101 genome.wustl.edu 37 15 50751275 50751275 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128610.1 +1 validated p.R138 0.972 341 0% 161 36.6% 10 30% - - - NULL USP8 9101 genome.wustl.edu 37 15 50790820 50790820 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128610.1 +1 validated p.Q1022H 0.997 272 0% 100 44% 23 39.1% benign(0.222) deleterious(0.01) neutral(0.428) HMMPfam_UCH,superfamily_SSF54001 TRPM7 54822 genome.wustl.edu 37 15 50884331 50884331 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017672.4 -1 reviewed p.Q1367H 0.989 120 0% 76 39.5% 7 42.8% benign(0) deleterious(0.04) neutral(0.349) NULL CYP19A1 1588 genome.wustl.edu 37 15 51510814 51510814 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000103.3 -1 reviewed p.A223T 1.000 242 0% 89 39.3% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_p450,superfamily_Cytochrome_P450 CYP19A1 1588 genome.wustl.edu 37 15 51535062 51535062 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000103.3 -1 reviewed p.I16 0.999 195 0% 110 57.3% 0 - - - - NULL DMXL2 23312 genome.wustl.edu 37 15 51773042 51773042 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015263.3 -1 validated p.I2087M 0.994 193 0% 83 42.2% 3 66.6% unknown(0) tolerated(0.1) - superfamily_WD40 repeat-like DMXL2 23312 genome.wustl.edu 37 15 51828437 51828437 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015263.3 -1 validated p.R747Q 1.000 132 0.8% 65 36.9% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320 DMXL2 23312 genome.wustl.edu 37 15 51839487 51839487 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015263.3 -1 validated p.L229S 1.000 208 0% 63 17.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SCG3 29106 genome.wustl.edu 37 15 51975512 51975512 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013243.3 +1 reviewed p.S93F 0.397 311 0% 111 53.2% 0 - benign(0.057) deleterious(0) neutral(0.448) NULL TMOD2 29767 genome.wustl.edu 37 15 52075002 52075002 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014548.3 +1 reviewed p.R237C 1.000 46 0% 37 51.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Tropomodulin,superfamily_SSF52047 MAPK6 5597 genome.wustl.edu 37 15 52350869 52350869 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002748.3 +1 reviewed p.S247Y 1.000 148 0% 63 49.2% 19 36.8% probably_damaging(1) tolerated(0.4) deleterious(0.516) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYO5C 55930 genome.wustl.edu 37 15 52486116 52486116 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018728.2 -1 validated p.F1738V 1.000 217 0% 92 44.6% 13 61.5% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL ONECUT1 3175 genome.wustl.edu 37 15 53049780 53049780 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004498.1 -1 provisional p.S457Y 1.000 274 0% 110 37.3% 0 - possibly_damaging(0.8) deleterious(0) deleterious(0.746) superfamily_Homeodomain-like ONECUT1 3175 genome.wustl.edu 37 15 53081406 53081406 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004498.1 -1 provisional p.L226F 1.000 8 0.000 26 0.346 0 - possibly_damaging(0.91) tolerated(0.11) deleterious(0.634) NULL UNC13C 440279 genome.wustl.edu 37 15 54306861 54306861 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080534.1 +1 provisional p.W587* 1.000 117 0% 50 28% 0 - - - - NULL UNC13C 440279 genome.wustl.edu 37 15 54435232 54435232 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080534.1 +1 provisional p.E1001* 1.000 606 0% 210 44.3% 0 - - - - NULL UNC13C 440279 genome.wustl.edu 37 15 54586098 54586098 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080534.1 +1 provisional p.C1275Y 1.000 339 0% 172 40.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB UNC13C 440279 genome.wustl.edu 37 15 54792347 54792347 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080534.1 +1 provisional p.A1711T 1.000 317 0.6% 89 44.9% 0 - possibly_damaging(0.762) deleterious(0) deleterious(0.727) NULL UNC13C 440279 genome.wustl.edu 37 15 54825157 54825157 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080534.1 +1 provisional p.F1863 0.605 291 0% 75 56% 0 - - - - NULL PIGB 9488 genome.wustl.edu 37 15 55613570 55613570 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004855.4 +1 reviewed p.K133N 0.429 368 0% 179 44.1% 4 75% benign(0.067) deleterious(0.04) neutral(0.353) HMMPfam_Glyco_transf_22 CCPG1 9236 genome.wustl.edu 37 15 55657465 55657465 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004748.3 -1 validated p.I250T 0.694 272 0% 73 13.7% 17 23.5% unknown(0) tolerated(0.36) - NULL DYX1C1 161582 genome.wustl.edu 37 15 55731679 55731679 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130810.2 -1 reviewed p.D295G 1.000 422 0% 200 37.5% 2 50% possibly_damaging(0.767) deleterious(0.02) deleterious(0.667) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like DYX1C1 161582 genome.wustl.edu 37 15 55789941 55789941 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130810.2 -1 reviewed p.A80 0.000 217 0.5% 158 15.8% 8 0% unknown(0) - - superfamily_HSP20-like chaperones PYGO1 26108 genome.wustl.edu 37 15 55881017 55881017 + Nonsense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015617.1 -1 provisional p.K12* 0.897 43 0% 27 40.7% 0 - - - - NULL RFX7 64864 genome.wustl.edu 37 15 56387374 56387374 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022841.5 -1 validated p.S851Y 1.000 190 1.1% 76 43.4% 8 37.5% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) NULL ZNF280D 54816 genome.wustl.edu 37 15 56946659 56946659 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017661.2 -1 validated p.D700 1.000 269 0% 87 18.4% 5 0% - - - HMMSmart_SM00355 ZNF280D 54816 genome.wustl.edu 37 15 56970870 56970870 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017661.2 -1 validated p.E385G 1.000 199 0% 90 47.8% 3 0% benign(0.024) deleterious(0.04) neutral(0.350) NULL ZNF280D 54816 genome.wustl.edu 37 15 56993109 56993109 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002844.1 -1 validated p.R135W 0.944 176 0% 91 18.7% 0 - - - - NULL TCF12 6938 genome.wustl.edu 37 15 57524985 57524985 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207036.1 +1 reviewed p.S301R 1.000 188 0% 60 26.7% 97 17.5% possibly_damaging(0.667) tolerated(0.08) deleterious(0.536) NULL TCF12 6938 genome.wustl.edu 37 15 57526290 57526290 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207036.1 +1 reviewed p.G340 0.998 256 0% 62 35.5% 80 55% - - - NULL TCF12 6938 genome.wustl.edu 37 15 57545514 57545514 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207036.1 +1 reviewed p.R439W 0.971 113 0% 44 47.7% 78 48.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CGNL1 84952 genome.wustl.edu 37 15 57734610 57734610 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032866.3 +1 validated p.N579 1.000 207 0% 88 14.8% 6 16.6% - - - NULL HSP90AB4P 664618 genome.wustl.edu 37 15 58983612 58983612 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380522 -1 known p.A403V 1.000 49 0% 29 31% 1 100% - - - superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 FAM63B 54629 genome.wustl.edu 37 15 59064077 59064077 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040450.1 +1 validated p.C161 1.000 7 0.000 10 0.800 7 42.8% - - - NULL SLTM 79811 genome.wustl.edu 37 15 59182632 59182632 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024755.2 -1 validated p.R643* 1.000 112 0% 54 50% 27 0% - - - NULL RNF111 54778 genome.wustl.edu 37 15 59383284 59383284 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017610.6 +1 reviewed p.L890F 1.000 273 0% 96 16.7% 10 20% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CCNB2 9133 genome.wustl.edu 37 15 59415775 59415775 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004701.2 +1 reviewed p.Q345 1.000 146 0% 68 50% 114 47.3% - - - HMMPfam_Cyclin_C,HMMSmart_SM00385,superfamily_Cyclin-like LDHAL6B 92483 genome.wustl.edu 37 15 59499541 59499541 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033195.1 +1 provisional p.V134 0.985 115 0% 111 38.7% 1 100% - - - HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd LOC100130107 100130107 genome.wustl.edu 37 15 60060891 60060891 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001719310.2 -1 model p.D119G 1.000 98 0% 27 29.6% 1221 0.3% - - - NULL ANXA2 302 genome.wustl.edu 37 15 60656636 60656636 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002858.2 -1 reviewed p.T97A 1.000 120 0% 62 12.9% 837 6.6% benign(0.248) tolerated(0.51) neutral(0.034) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 NARG2 79664 genome.wustl.edu 37 15 60741288 60741288 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024611.4 -1 validated p.E626D 0.676 212 0% 92 39.1% 8 87.5% probably_damaging(0.973) deleterious(0) deleterious(0.859) NULL VPS13C 54832 genome.wustl.edu 37 15 62160127 62160127 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001018088.1 -1 validated p.E3628G 1.000 280 0% 86 41.9% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL VPS13C 54832 genome.wustl.edu 37 15 62170930 62170930 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020821.1 -1 validated p.S3340P 1.000 180 0% 43 37.2% 18 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS13C 54832 genome.wustl.edu 37 15 62204163 62204163 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020821.1 -1 validated p.R2864Q 1.000 228 0% 94 41.5% 8 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF1162 VPS13C 54832 genome.wustl.edu 37 15 62219413 62219413 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020821.1 -1 validated p.S2131 0.028 90 0% 47 51.1% 10 50% - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62233987 62233987 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020821.1 -1 validated p.E1810K 0.784 152 0% 60 48.3% 7 57.1% benign(0.002) tolerated(0.44) neutral(0.013) NULL VPS13C 54832 genome.wustl.edu 37 15 62273647 62273647 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020821.1 -1 validated p.V687A 0.993 165 0% 83 33.7% 5 60% possibly_damaging(0.781) deleterious(0) deleterious(0.737) NULL LOC100289289 100289289 genome.wustl.edu 37 15 62539291 62539291 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343368.1 -1 model p.E1104 0.945 37 0% 31 41.9% 0 - - - - NULL TLN2 83660 genome.wustl.edu 37 15 62948248 62948248 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015059.2 +1 reviewed p.S208L 1.000 109 0% 57 49.1% 4 50% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 TLN2 83660 genome.wustl.edu 37 15 63000913 63000913 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015059.2 +1 reviewed p.G795 0.268 15 0% 36 27.8% 6 50% - - - superfamily_SSF109885 TLN2 83660 genome.wustl.edu 37 15 63112737 63112737 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015059.2 +1 reviewed p.L2310 0.976 72 0% 48 45.8% 11 54.5% - - - superfamily_SSF109885 LACTB 114294 genome.wustl.edu 37 15 63419597 63419597 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032857.2 +1 reviewed p.R221C 1.000 117 0% 50 44% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Beta-lactamase,superfamily_beta-lactamase/transpeptidase-like CA12 771 genome.wustl.edu 37 15 63638889 63638889 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001218.3 -1 reviewed p.S42 0.991 68 0% 52 15.4% 23 13% - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase USP3 9960 genome.wustl.edu 37 15 63883013 63883013 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006537.2 +1 validated p.S517 0.000 63 0% 61 27.9% 39 35.8% - - - NULL HERC1 8925 genome.wustl.edu 37 15 63908817 63908817 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003922.3 -1 reviewed p.L4585V 1.000 51 0% 26 46.2% 8 25% probably_damaging(0.971) - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC1 8925 genome.wustl.edu 37 15 63918247 63918247 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003922.3 -1 reviewed p.L4404 0.039 44 0% 27 33.3% 15 80% - - - NULL HERC1 8925 genome.wustl.edu 37 15 63921012 63921012 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003922.3 -1 reviewed p.L4323 0.731 77 0% 63 36.5% 16 56.2% - - - HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC1 8925 genome.wustl.edu 37 15 63935704 63935704 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003922.3 -1 reviewed p.R3744W 0.656 131 0% 67 49.3% 15 40% probably_damaging(0.998) - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HERC1 8925 genome.wustl.edu 37 15 63970057 63970057 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003922.3 -1 reviewed p.E2353* 1.000 70 0% 35 42.9% 6 50% - - - NULL HERC1 8925 genome.wustl.edu 37 15 64008586 64008586 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003922.3 -1 reviewed p.E1355 1.000 279 0.4% 161 44.7% 1 100% - - - NULL FAM96A 84191 genome.wustl.edu 37 15 64381017 64381017 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032231.4 -1 validated p.P53L 1.000 304 0% 163 11% 50 4% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_DUF59 SNX1 6642 genome.wustl.edu 37 15 64410413 64410413 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003099.3 +1 reviewed p.N123K 1.000 140 0% 65 27.7% 54 29.6% benign(0.004) tolerated(0.45) neutral(0.012) HMMPfam_Sorting_nexin CSNK1G1 53944 genome.wustl.edu 37 15 64495339 64495339 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022048.3 -1 validated p.T350N 1.000 182 0% 140 53.6% 6 66.6% benign(0.062) tolerated(0.62) neutral(0.008) NULL ZNF609 23060 genome.wustl.edu 37 15 64970406 64970406 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015042.1 +1 provisional p.R1165H 1.000 36 0% 15 60% 22 72.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLEKHO2 80301 genome.wustl.edu 37 15 65147205 65147205 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025201.4 +1 validated p.R83H 0.954 53 0% 48 43.8% 12 41.6% probably_damaging(1) tolerated(0.28) deleterious(0.531) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like MTFMT 123263 genome.wustl.edu 37 15 65295439 65295439 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139242.3 -1 validated p.K377 0.000 392 0% 166 38% 13 69.2% - - - NULL CILP 8483 genome.wustl.edu 37 15 65489304 65489304 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003613.3 -1 reviewed p.M1107T 1.000 28 0% 20 25% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CILP 8483 genome.wustl.edu 37 15 65490936 65490936 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003613.3 -1 reviewed p.A563V 0.998 60 0% 41 41.5% 0 - probably_damaging(0.99) tolerated(0.07) deleterious(0.760) superfamily_Carboxypeptidase regulatory domain IGDCC3 9543 genome.wustl.edu 37 15 65623788 65623788 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004884.3 -1 validated p.E453A 1.000 4 0.000 12 0.333 0 - benign(0.075) tolerated(0.22) neutral(0.047) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SLC24A1 9187 genome.wustl.edu 37 15 65917311 65917311 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004727.2 +1 validated p.L298S 0.000 40 0% 33 36.4% 3 33.3% unknown(0) deleterious(0) - NULL SLC24A1 9187 genome.wustl.edu 37 15 65917658 65917658 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004727.2 +1 validated p.A414S 0.000 44 0% 44 56.8% 3 100% unknown(0) tolerated(0.25) - NULL DENND4A 10260 genome.wustl.edu 37 15 65957686 65957686 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144823.1 -1 validated p.H1785Y 1.000 215 0% 95 37.9% 4 50% benign(0) tolerated(0.81) neutral(0.001) NULL DIS3L 115752 genome.wustl.edu 37 15 66615856 66615856 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133375.3 +1 validated p.R451C 0.999 159 0% 110 13.6% 16 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNB LCTL 197021 genome.wustl.edu 37 15 66853433 66853433 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207338.2 -1 validated p.A206T 0.976 22 0% 26 65.4% 0 - benign(0.01) tolerated(0.06) neutral(0.323) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCTL 197021 genome.wustl.edu 37 15 66853434 66853434 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207338.2 -1 validated p.M205I 0.963 23 0% 26 26.9% 0 - benign(0.005) tolerated(0.63) neutral(0.004) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat SMAD3 4088 genome.wustl.edu 37 15 67430400 67430400 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145103.1 +1 reviewed p.G12 0.000 76 0% 59 22% 0 - - - - HMMPfam_MH1,HMMSmart_DWA SMAD3 4088 genome.wustl.edu 37 15 67462911 67462911 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005902.3 +1 reviewed p.P209 0.998 88 0% 72 38.9% 31 45.1% - - - superfamily_SMAD/FHA domain SKOR1 390598 genome.wustl.edu 37 15 68118312 68118312 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031807.1 +1 provisional p.P40L 0.998 6 0.000 13 0.385 0 - possibly_damaging(0.671) deleterious(0) deleterious(0.682) NULL SKOR1 390598 genome.wustl.edu 37 15 68118905 68118905 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031807.1 +1 provisional p.R238C 1.000 11 0% 31 51.6% 0 - possibly_damaging(0.806) deleterious(0.01) deleterious(0.709) superfamily_SAND_like,HMMPfam_c-SKI_SMAD_bind FEM1B 10116 genome.wustl.edu 37 15 68582661 68582661 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015322.3 +1 provisional p.D322A 1.000 81 0% 50 38% 16 56.2% possibly_damaging(0.907) deleterious(0.03) deleterious(0.725) superfamily_ANK ITGA11 22801 genome.wustl.edu 37 15 68596195 68596195 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004439.1 -1 reviewed p.D1137G 0.930 16 0% 15 53.3% 1 0% possibly_damaging(0.653) tolerated(0.2) neutral(0.279) superfamily_Integrin domains ITGA11 22801 genome.wustl.edu 37 15 68617542 68617542 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004439.1 -1 reviewed p.V750A 0.002 33 0% 34 50% 9 0% benign(0.002) deleterious(0.01) neutral(0.406) HMMPfam_Integrin_alpha2,superfamily_Integrin domains ITGA11 22801 genome.wustl.edu 37 15 68643055 68643055 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004439.1 -1 reviewed p.I320 1.000 141 0% 97 37.1% 3 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain CORO2B 10391 genome.wustl.edu 37 15 68937509 68937509 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000261861 +1 known p.R9H 1.000 18 0% 27 33.3% 0 - benign(0.033) tolerated(0.18) neutral(0.058) NULL CORO2B 10391 genome.wustl.edu 37 15 68937670 68937670 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000261861 +1 known p.G63S 0.998 16 0% 17 58.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like,HMMPfam_DUF1899 NOX5 79400 genome.wustl.edu 37 15 69331281 69331281 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024505.3 +1 validated p.R468C 0.275 103 0% 73 43.8% 1 100% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) HMMPfam_FAD_binding_8,superfamily_Riboflavin_synthase_like_b-brl NOX5 79400 genome.wustl.edu 37 15 69348991 69348991 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024505.3 +1 validated p.G733 0.961 124 0% 79 39.2% 0 - - - - HMMPfam_NAD_binding_6,superfamily_SSF52343 PAQR5 54852 genome.wustl.edu 37 15 69677068 69677068 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001104554.1 +1 validated p.D78N 1.000 86 0% 67 20.9% 1 0% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_HlyIII KIF23 9493 genome.wustl.edu 37 15 69737221 69737221 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138555.1 +1 reviewed p.P824 0.621 48 0% 30 46.7% 37 35.1% - - - NULL TLE3 7090 genome.wustl.edu 37 15 70349824 70349824 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005078.2 -1 validated p.R412* 1.000 13 0% 14 35.7% 17 11.7% - - - NULL TLE3 7090 genome.wustl.edu 37 15 70366931 70366931 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005078.2 -1 validated p.A105T 1.000 48 0% 53 50.9% 26 53.8% benign(0.358) tolerated(0.22) neutral(0.155) HMMPfam_TLE_N LRRC49 54839 genome.wustl.edu 37 15 71272451 71272451 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017691.2 +1 validated p.R311 1.000 298 0% 90 48.9% 3 33.3% - - - NULL NR2E3 10002 genome.wustl.edu 37 15 72109971 72109971 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014249.2 +1 reviewed p.K393N 1.000 141 0.7% 109 54.1% 0 - possibly_damaging(0.582) deleterious(0.01) deleterious(0.606) HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain MYO9A 4649 genome.wustl.edu 37 15 72154896 72154896 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006901.2 -1 validated p.Y2012 1.000 412 0% 178 38.2% 7 42.8% - - - HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain MYO9A 4649 genome.wustl.edu 37 15 72192172 72192172 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006901.2 -1 validated p.R1109I 0.998 87 0% 43 46.5% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases PKM2 5315 genome.wustl.edu 37 15 72492041 72492041 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002654.3 -1 reviewed p.R516C 1.000 25 0% 15 46.7% 1566 46.2% benign(0.093) deleterious(0) neutral(0.452) HMMPfam_PK_C,superfamily_PK C-terminal domain-like ENSG00000246762 0 genome.wustl.edu 37 15 72643212 72643212 + RNA SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000498972 +1 known NULL 0.001 8 0.000 7 0.571 0 - - - - - GOLGA6B 55889 genome.wustl.edu 37 15 72954931 72954931 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018652.4 +1 reviewed p.R396* 0.991 148 0% 138 31.2% 0 - - - - NULL BBS4 585 genome.wustl.edu 37 15 73029923 73029923 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033028.3 +1 reviewed p.K519E 0.304 137 0% 79 45.6% 14 71.4% benign(0.002) tolerated(0.65) neutral(0.003) NULL LOC100287587 100287587 genome.wustl.edu 37 15 74032558 74032558 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343351.1 +1 model p.V34I 1.000 17 0% 28 53.6% 11 45.4% - - - NULL LOXL1 4016 genome.wustl.edu 37 15 74239516 74239516 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005576.2 +1 reviewed p.T486 1.000 41 0% 36 47.2% 27 29.6% - - - HMMPfam_Lysyl_oxidase PML 5371 genome.wustl.edu 37 15 74290677 74290677 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033238.2 +1 reviewed p.A154 0.426 15 0% 15 60% 39 41% - - - HMMPfam_zf-B_box,HMMSmart_SM00336 PML 5371 genome.wustl.edu 37 15 74327566 74327566 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033239.2 +1 reviewed p.S588 0.000 13 0% 13 61.5% 29 41.3% - - - NULL ENSG00000188447 0 genome.wustl.edu 37 15 74355185 74355185 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000339692 +1 known p.E33D 1.000 11 0% 11 36.4% 0 - - - - HMMPfam_GED CCDC33 80125 genome.wustl.edu 37 15 74626275 74626275 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000321374 +1 known p.R290C 0.001 31 0% 26 19.2% 0 - - - - NULL CYP11A1 1583 genome.wustl.edu 37 15 74636264 74636264 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000781.2 -1 reviewed p.R232Q 0.977 37 0% 36 52.8% 1 100% benign(0.052) tolerated(0.12) neutral(0.264) HMMPfam_p450,superfamily_Cytochrome P450 SEMA7A 8482 genome.wustl.edu 37 15 74709958 74709958 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003612.3 -1 reviewed p.D175G 0.176 12 0% 11 45.5% 7 28.5% benign(0.014) tolerated(0.09) neutral(0.297) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema CYP1A2 1544 genome.wustl.edu 37 15 75043555 75043555 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000761.3 +1 reviewed p.A286D 1.000 29 0% 22 31.8% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_p450,superfamily_Cytochrome_P450 CSK 1445 genome.wustl.edu 37 15 75094141 75094141 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127190.1 +1 validated p.S331 1.000 28 0% 25 60% 99 42.4% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SCAMP2 10066 genome.wustl.edu 37 15 75143796 75143796 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005697.3 -1 reviewed p.P124S 1.000 35 0% 24 45.8% 113 44.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SCAMP MPI 4351 genome.wustl.edu 37 15 75185124 75185124 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002435.1 +1 reviewed p.E156 1.000 33 0% 28 32.1% 43 39.5% - - - HMMPfam_PMI_typeI,superfamily_RmlC-like cupins SIN3A 25942 genome.wustl.edu 37 15 75684802 75684802 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145357.1 -1 reviewed p.G878* 1.000 385 0% 170 42.9% 10 30% - - - NULL SNUPN 10073 genome.wustl.edu 37 15 75901916 75901916 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042581.1 -1 reviewed p.R162Q 0.280 117 0% 76 42.1% 40 40% benign(0.013) tolerated(0.28) neutral(0.032) NULL SNX33 257364 genome.wustl.edu 37 15 75942574 75942574 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153271.1 +1 provisional p.R377 0.136 25 0% 13 30.8% 15 40% - - - HMMPfam_BAR_3_WASP_bdg CSPG4 1464 genome.wustl.edu 37 15 75980982 75980982 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001897.4 -1 reviewed p.E808D 0.988 9 0.000 9 0.667 3 0% probably_damaging(0.992) tolerated(0.43) neutral(0.461) NULL ENSG00000187812 0 genome.wustl.edu 37 15 76073134 76073134 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000395215 +1 known p.D128N 0.987 142 0.7% 108 44.4% 0 - benign(0) tolerated(1) - NULL NRG4 145957 genome.wustl.edu 37 15 76254276 76254276 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138573.3 -1 validated p.V48 0.998 154 0% 81 44.4% 0 - - - - superfamily_SSF57196 C15orf27 123591 genome.wustl.edu 37 15 76452494 76452494 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152335.2 +1 validated p.S147 0.066 241 0% 197 37.6% 0 - - - - NULL ETFA 2108 genome.wustl.edu 37 15 76588065 76588065 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000126.3 -1 reviewed p.R18Q 0.999 94 0% 73 43.8% 39 35.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCAPER 49855 genome.wustl.edu 37 15 77176169 77176169 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000303521 -1 known p.E51D 0.002 613 0% 251 45.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LINGO1 84894 genome.wustl.edu 37 15 77907693 77907693 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032808.5 -1 validated p.A186T 1.000 20 0% 29 51.7% 28 32.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like CIB2 10518 genome.wustl.edu 37 15 78398116 78398116 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006383.2 -1 validated p.F169 0.985 39 0% 38 42.1% 43 37.2% - - - HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 ACSBG1 23205 genome.wustl.edu 37 15 78463792 78463792 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015162.3 -1 reviewed p.K723N 0.000 205 0% 116 35.3% 1 100% possibly_damaging(0.602) deleterious(0.01) deleterious(0.614) NULL WDR61 80349 genome.wustl.edu 37 15 78578400 78578400 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025234.1 -1 provisional p.D244 1.000 69 0% 25 60% 108 52.7% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 IREB2 3658 genome.wustl.edu 37 15 78790409 78790409 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004136.2 +1 validated p.S939L 0.262 249 0% 125 52.8% 24 54.1% benign(0) deleterious(0.02) neutral(0.383) superfamily_Aconitase RASGRF1 5923 genome.wustl.edu 37 15 79277428 79277428 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002891.4 -1 reviewed p.A1128V 0.994 81 0% 34 32.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF RASGRF1 5923 genome.wustl.edu 37 15 79282603 79282603 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002891.4 -1 reviewed p.G1064 0.899 208 0% 137 35.8% 1 0% - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF RASGRF1 5923 genome.wustl.edu 37 15 79324605 79324605 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002891.4 -1 reviewed p.R338C 0.991 53 0% 46 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ANKRD34C 390616 genome.wustl.edu 37 15 79585826 79585826 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343327.1 +1 model p.M67T 1.000 75 0% 47 14.9% 0 - possibly_damaging(0.475) deleterious(0.04) deleterious(0.505) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ARNT2 9915 genome.wustl.edu 37 15 80762590 80762590 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014862.3 +1 reviewed p.R76W 1.000 27 0% 25 48% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain ARNT2 9915 genome.wustl.edu 37 15 80806724 80806724 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014862.3 +1 reviewed p.Y285 1.000 77 0% 56 44.6% 8 75% - - - NULL ARNT2 9915 genome.wustl.edu 37 15 80845055 80845055 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014862.3 +1 reviewed p.S343 0.114 83 0% 55 36.4% 16 37.5% - - - HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) ARNT2 9915 genome.wustl.edu 37 15 80867351 80867351 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014862.3 +1 reviewed p.A471 0.000 192 0.5% 132 12.9% 32 9.3% - - - NULL KIAA1199 57214 genome.wustl.edu 37 15 81229053 81229053 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018689.1 +1 validated p.M1016I 1.000 189 0% 123 37.4% 4 50% possibly_damaging(0.448) tolerated(0.11) neutral(0.418) NULL C15orf26 161502 genome.wustl.edu 37 15 81427691 81427691 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173528.2 +1 predicted p.L50 0.569 159 0% 76 44.7% 2 0% - - - NULL TMC3 342125 genome.wustl.edu 37 15 81625494 81625494 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080532.1 -1 provisional p.R857* 0.972 115 0% 63 49.2% 2 50% - - - NULL MEX3B 84206 genome.wustl.edu 37 15 82335533 82335533 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032246.3 -1 provisional p.A560T 0.997 12 0% 11 45.5% 21 38% possibly_damaging(0.706) tolerated(0.61) neutral(0.258) superfamily_RING/U-box MEX3B 84206 genome.wustl.edu 37 15 82335683 82335683 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032246.3 -1 provisional p.L510I 1.000 15 0% 14 42.9% 23 52.1% benign(0.073) tolerated(0.2) neutral(0.054) superfamily_RING/U-box MEX3B 84206 genome.wustl.edu 37 15 82336602 82336602 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032246.3 -1 provisional p.P203 0.010 11 0% 13 61.5% 30 53.3% - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) EFTUD1 79631 genome.wustl.edu 37 15 82456239 82456239 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024580.5 -1 validated p.E613K 1.000 186 0% 100 49% 11 54.5% possibly_damaging(0.905) tolerated(0.9) neutral(0.359) superfamily_EF-G C-terminal domain-like EFTUD1 79631 genome.wustl.edu 37 15 82512525 82512525 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024580.5 -1 validated p.R446 0.822 100 0% 43 32.6% 15 53.3% - - - superfamily_Translation proteins FAM154B 283726 genome.wustl.edu 37 15 82563946 82563946 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008226.1 +1 predicted p.S19L 0.994 228 0% 69 43.5% 0 - benign(0.287) deleterious(0.03) neutral(0.453) NULL CPEB1 64506 genome.wustl.edu 37 15 83240227 83240227 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030594.3 -1 reviewed p.A82 1.000 95 0% 74 50% 0 - - - - NULL FSD2 123722 genome.wustl.edu 37 15 83434736 83434736 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007122.2 -1 provisional p.P534L 0.994 8 0.000 9 0.444 0 - possibly_damaging(0.631) tolerated(0.12) deleterious(0.481) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like HOMER2 9455 genome.wustl.edu 37 15 83523469 83523469 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199330.1 -1 reviewed p.S204L 0.998 9 0.000 12 0.417 103 44.6% possibly_damaging(0.68) deleterious(0) deleterious(0.687) NULL SH3GL3 6457 genome.wustl.edu 37 15 84286968 84286968 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003027.3 +1 validated p.G325* 1.000 118 0% 61 47.5% 1 0% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ADAMTSL3 57188 genome.wustl.edu 37 15 84651311 84651311 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207517.2 +1 validated p.I977 0.828 32 0% 24 45.8% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ZSCAN2 54993 genome.wustl.edu 37 15 85164586 85164586 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181877.3 +1 reviewed p.E387V 1.000 38 0% 25 44% 5 20% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_C2H2 and C2HC zinc fingers ZSCAN2 54993 genome.wustl.edu 37 15 85165019 85165019 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181877.3 +1 reviewed p.K531N 0.000 28 0% 23 52.2% 5 60% benign(0.004) deleterious(0.03) neutral(0.364) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ALPK3 57538 genome.wustl.edu 37 15 85383337 85383337 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020778.4 +1 validated p.T478I 0.997 40 0% 41 48.8% 5 0% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL ALPK3 57538 genome.wustl.edu 37 15 85400448 85400448 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020778.4 +1 validated p.V1029L 0.001 22 0% 23 43.5% 9 0% benign(0.079) - - NULL PDE8A 5151 genome.wustl.edu 37 15 85664247 85664247 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002605.2 +1 validated e18+2 0.997 107 0% 52 13.5% 0 - - - - - AKAP13 11214 genome.wustl.edu 37 15 86251288 86251288 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006738.4 +1 reviewed p.L1839 1.000 296 0% 142 40.8% 17 35.2% - - - HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 KLHL25 64410 genome.wustl.edu 37 15 86312633 86312633 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022480.3 -1 validated p.A137T 0.996 23 0% 38 28.9% 9 44.4% benign(0.127) deleterious(0) neutral(0.455) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB NTRK3 4916 genome.wustl.edu 37 15 88576229 88576229 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012338.1 -1 reviewed p.H482Y 1.000 17 0% 12 33.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NTRK3 4916 genome.wustl.edu 37 15 88680697 88680697 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012338.1 -1 reviewed p.L187P 1.000 42 0% 45 15.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00082 DET1 55070 genome.wustl.edu 37 15 89074352 89074352 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017996.3 -1 validated p.I206 1.000 31 0% 21 52.4% 6 33.3% - - - HMMPfam_Det1 MIR1179 100302235 genome.wustl.edu 37 15 89151400 89151400 + RNA SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000408703 +1 known NULL 0.997 424 0% 241 42.7% 0 - - - - - ACAN 176 genome.wustl.edu 37 15 89400158 89400158 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013227.3 +1 reviewed p.I1333V 0.001 172 0% 82 35.4% 1 0% benign(0.004) tolerated(0.64) neutral(0.003) NULL C15orf42 90381 genome.wustl.edu 37 15 90127527 90127527 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152259.3 +1 validated p.E315D 0.095 80 0% 47 38.3% 0 - benign(0.094) tolerated(0.57) neutral(0.013) NULL C15orf42 90381 genome.wustl.edu 37 15 90143853 90143853 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152259.3 +1 validated p.K697T 1.000 136 0% 41 58.5% 3 66.6% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL C15orf42 90381 genome.wustl.edu 37 15 90167098 90167098 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152259.3 +1 validated p.T1186I 0.024 93 0% 57 47.4% 6 83.3% possibly_damaging(0.809) tolerated(0.1) deleterious(0.591) NULL KIF7 374654 genome.wustl.edu 37 15 90176162 90176162 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198525.2 -1 validated p.A928 0.784 18 0% 17 70.6% 15 33.3% - - - NULL KIF7 374654 genome.wustl.edu 37 15 90177075 90177075 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198525.2 -1 validated p.S812P 1.000 15 0% 10 40% 13 46.1% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL KIF7 374654 genome.wustl.edu 37 15 90191960 90191960 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198525.2 -1 validated p.I323 0.934 11 0% 10 40% 14 64.2% - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 PEX11A 8800 genome.wustl.edu 37 15 90227074 90227074 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003847.1 -1 provisional p.R93H 1.000 80 0% 61 42.6% 18 27.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PEX11 ANPEP 290 genome.wustl.edu 37 15 90349598 90349598 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001150.2 -1 reviewed p.R73C 0.046 51 0% 41 12.2% 2 0% probably_damaging(0.968) deleterious(0.02) deleterious(0.793) superfamily_SSF63737 C15orf38 348110 genome.wustl.edu 37 15 90451588 90451588 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182616.2 -1 validated p.D75 0.931 64 0% 42 42.9% 43 53.4% - - - HMMPfam_UPF0552 C15orf38 348110 genome.wustl.edu 37 15 90451591 90451591 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182616.2 -1 validated p.F74 0.470 60 0% 42 42.9% 43 34.8% - - - HMMPfam_UPF0552 C15orf38 348110 genome.wustl.edu 37 15 90454039 90454039 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182616.2 -1 validated p.V35 0.996 64 0% 31 58.1% 11 54.5% - - - HMMPfam_UPF0552 ZNF710 374655 genome.wustl.edu 37 15 90610810 90610810 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198526.2 +1 validated p.C147 0.829 25 0% 34 47.1% 7 57.1% - - - NULL CIB1 10519 genome.wustl.edu 37 15 90774721 90774721 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006384.3 -1 validated p.R72* 0.996 45 0% 54 42.6% 262 17.5% - - - superfamily_EF-hand NGRN 51335 genome.wustl.edu 37 15 90814781 90814781 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033088.1 +1 validated p.E213* 0.031 69 0% 28 35.7% 83 37.3% - - - HMMPfam_Neugrin LOC728477 728477 genome.wustl.edu 37 15 90836945 90836945 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343383.1 +1 model p.A51V 0.749 10 0.000 7 0.571 0 - - - - NULL IQGAP1 8826 genome.wustl.edu 37 15 90996120 90996120 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003870.3 +1 reviewed p.A426T 1.000 102 0% 50 54% 31 74.1% possibly_damaging(0.858) tolerated(0.07) deleterious(0.650) NULL IQGAP1 8826 genome.wustl.edu 37 15 91025277 91025277 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003870.3 +1 reviewed p.R1139W 1.000 58 0% 33 36.4% 40 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP CRTC3 64784 genome.wustl.edu 37 15 91147672 91147672 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022769.3 +1 validated p.L157I 1.000 211 0% 155 45.2% 11 54.5% possibly_damaging(0.942) deleterious(0.02) deleterious(0.770) NULL CRTC3 64784 genome.wustl.edu 37 15 91161163 91161163 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022769.3 +1 validated p.P221L 0.995 231 0% 135 44.4% 13 15.3% probably_damaging(0.999) tolerated(0.27) deleterious(0.524) NULL BLM 641 genome.wustl.edu 37 15 91312735 91312735 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000057.2 +1 reviewed p.P825Q 1.000 91 0% 40 42.5% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 FES 2242 genome.wustl.edu 37 15 91433159 91433159 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002005.3 +1 reviewed p.R339Q 0.000 8 0.000 13 0.538 4 0% benign(0.002) tolerated(0.59) neutral(0.004) NULL MAN2A2 4122 genome.wustl.edu 37 15 91454463 91454463 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006122.2 +1 validated p.S646 0.207 32 0% 27 55.6% 20 50% - - - superfamily_Gal_mut_like PRC1 9055 genome.wustl.edu 37 15 91513664 91513664 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003981.2 -1 reviewed p.P514 0.043 104 0% 58 10.3% 72 5.5% - - - HMMPfam_MAP65_ASE1 SV2B 9899 genome.wustl.edu 37 15 91795081 91795081 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014848.4 +1 validated p.A162T 0.999 50 0% 34 50% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter CHD2 1106 genome.wustl.edu 37 15 93482841 93482841 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001271.3 +1 reviewed p.P195 0.006 145 0.7% 78 29.5% 15 26.6% - - - NULL CHD2 1106 genome.wustl.edu 37 15 93486101 93486101 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001271.3 +1 reviewed p.A285 0.003 150 0% 64 37.5% 8 25% - - - HMMSmart_SM00298 CHD2 1106 genome.wustl.edu 37 15 93540224 93540224 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001271.3 +1 reviewed p.K1211N 1.000 266 0% 129 42.6% 12 41.6% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_P-loop containing nucleoside triphosphate hydrolases MCTP2 55784 genome.wustl.edu 37 15 95019952 95019952 + Missense_Mutation SNP G G A rs187187495 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018349.3 +1 validated p.R833Q 1.000 274 0% 86 47.7% 2 100% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) NULL FAM169B 283777 genome.wustl.edu 37 15 98984374 98984374 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182562.2 -1 validated p.E129K 0.066 68 0% 42 47.6% 0 - benign(0) tolerated(0.23) neutral(0.042) NULL IGF1R 3480 genome.wustl.edu 37 15 99467225 99467225 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000875.3 +1 reviewed p.Y869C 0.998 74 0% 47 46.8% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like IGF1R 3480 genome.wustl.edu 37 15 99486276 99486276 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000875.3 +1 reviewed p.D1194 0.366 41 0% 27 29.6% 4 75% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like IGF1R 3480 genome.wustl.edu 37 15 99500337 99500337 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000875.3 +1 reviewed p.P1257H 1.000 45 0% 35 22.9% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like SYNM 23336 genome.wustl.edu 37 15 99671320 99671320 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000336292 +1 known p.E918K 0.031 37 0% 33 42.4% 1 0% benign(0.04) tolerated(0.19) neutral(0.052) NULL LRRC28 123355 genome.wustl.edu 37 15 99796166 99796166 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144598.2 +1 provisional p.A2S 1.000 129 0% 77 10.4% 2 50% possibly_damaging(0.706) tolerated(0.14) deleterious(0.504) NULL LRRC28 123355 genome.wustl.edu 37 15 99874197 99874197 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144598.2 +1 provisional p.R152K 1.000 215 0% 90 27.8% 7 42.8% benign(0) tolerated(0.23) neutral(0.042) HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like ENSG00000214394 0 genome.wustl.edu 37 15 100332499 100332499 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398270 +1 known p.H66 0.998 33 0% 41 36.6% 0 - - - - NULL ADAMTS17 170691 genome.wustl.edu 37 15 100533313 100533313 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139057.2 -1 reviewed p.A963 0.193 22 0% 27 37% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat CHSY1 22856 genome.wustl.edu 37 15 101717611 101717611 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000254190 -1 known p.G797 1.000 141 0% 87 52.9% 11 54.5% - - - NULL CHSY1 22856 genome.wustl.edu 37 15 101718489 101718489 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000254190 -1 known p.S505P 1.000 162 0% 102 51% 37 24.3% probably_damaging(0.957) tolerated(0.06) deleterious(0.723) HMMPfam_CHGN,superfamily_SSF53448 PCSK6 5046 genome.wustl.edu 37 15 101905181 101905181 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138325.2 -1 reviewed p.S642Y 0.000 156 0% 96 47.9% 0 - unknown(0) deleterious(0.02) - NULL TARSL2 123283 genome.wustl.edu 37 15 102252083 102252083 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152334.2 -1 validated p.R271I 1.000 95 0% 37 40.5% 2 50% benign(0.125) deleterious(0.05) neutral(0.356) superfamily_ThrRS/AlaRS common domain OR4F15 390649 genome.wustl.edu 37 15 102358676 102358676 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001674.1 +1 provisional p.G96E 0.002 161 0% 92 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NPRL3 8131 genome.wustl.edu 37 16 148286 148286 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000399953 -1 known p.L261M 0.960 17 0% 16 37.5% 37 54% possibly_damaging(0.778) tolerated(0.55) neutral(0.298) HMMPfam_UPF0171 LUC7L 55692 genome.wustl.edu 37 16 240106 240106 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201412.1 -1 validated p.R279W 1.000 10 0% 13 38.5% 126 41.2% unknown(0) tolerated(0.07) - NULL ITFG3 83986 genome.wustl.edu 37 16 311465 311465 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032039.2 +1 validated p.D220 0.000 15 0.000 7 0.857 79 44.3% - - - NULL RGS11 8786 genome.wustl.edu 37 16 321556 321556 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183337.1 -1 reviewed p.D224Y 0.237 111 0% 91 35.2% 3 100% possibly_damaging(0.818) deleterious(0) deleterious(0.754) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain PDIA2 64714 genome.wustl.edu 37 16 334573 334573 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006849.2 +1 validated p.T129M 0.293 13 0% 15 60% 4 25% possibly_damaging(0.78) tolerated(0.07) deleterious(0.611) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin NME4 4833 genome.wustl.edu 37 16 454983 454983 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000444498 +1 known p.A214V 0.834 122 0% 122 19.7% 16 31.2% unknown(0) - - NULL WDR90 197335 genome.wustl.edu 37 16 703745 703745 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145294.4 +1 provisional e13-1 1.000 15 0% 15 26.7% 0 - - - - - WDR24 84219 genome.wustl.edu 37 16 737359 737359 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032259.2 -1 provisional p.T239 0.000 12 0% 12 33.3% 18 0% - - - superfamily_WD40 repeat-like FAM173A 65990 genome.wustl.edu 37 16 772356 772356 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023933.1 +1 predicted p.A169 0.992 9 0.000 8 0.500 44 61.3% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases GNG13 51764 genome.wustl.edu 37 16 848773 848773 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016541.2 -1 validated p.P50 0.790 48 0% 58 32.8% 0 - - - - HMMPfam_G-gamma,HMMSmart_GGL,superfamily_G-protein_gamma-like CACNA1H 8912 genome.wustl.edu 37 16 1254131 1254131 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021098.2 +1 reviewed p.E708D 0.958 3 0.000 7 0.571 1 0% benign(0.001) tolerated(0.53) neutral(0.007) NULL CACNA1H 8912 genome.wustl.edu 37 16 1255242 1255242 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021098.2 +1 reviewed p.F860 0.899 25 0% 23 52.2% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels UBE2I 7329 genome.wustl.edu 37 16 1370573 1370573 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000402301 +1 known p.G156 0.000 23 0% 23 43.5% 2 100% - - - NULL C16orf91 283951 genome.wustl.edu 37 16 1470575 1470575 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010878.1 -1 provisional p.R181Q 0.002 17 0% 18 44.4% 22 45.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CLCN7 1186 genome.wustl.edu 37 16 1499063 1499063 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001287.4 -1 reviewed p.T567 0.002 18 0.000 8 0.500 56 37.5% - - - HMMPfam_Voltage_CLC,superfamily_Cl-channel_core TELO2 9894 genome.wustl.edu 37 16 1552987 1552987 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016111.3 +1 reviewed p.R609H 1.000 53 0% 47 48.9% 51 39.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Telomere_reg-2 TMEM204 79652 genome.wustl.edu 37 16 1604800 1604800 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024600.4 +1 provisional p.G152R 1.000 58 0% 60 43.3% 13 7.6% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL CRAMP1L 57585 genome.wustl.edu 37 16 1716082 1716082 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020825.3 +1 validated p.S921T 0.985 21 0% 26 34.6% 8 37.5% possibly_damaging(0.621) tolerated(0.51) neutral(0.226) NULL TSC2 7249 genome.wustl.edu 37 16 2108765 2108765 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000548.3 +1 reviewed p.A289V 1.000 38 0% 36 44.4% 17 29.4% benign(0.106) tolerated(0.24) neutral(0.045) superfamily_ARM repeat TRAF7 84231 genome.wustl.edu 37 16 2221578 2221578 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032271.2 +1 validated p.T149 0.255 15 0% 22 40.9% 66 48.4% - - - HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box TRAF7 84231 genome.wustl.edu 37 16 2223261 2223261 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032271.2 +1 validated p.L291 1.000 26 0% 22 31.8% 65 49.2% - - - superfamily_TRAF domain-like E4F1 1877 genome.wustl.edu 37 16 2283011 2283011 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004424.3 +1 reviewed e7-1 0.282 24 0% 18 66.7% 9 100% - - - - ABCA3 21 genome.wustl.edu 37 16 2367711 2367711 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001089.2 -1 reviewed p.L310I 1.000 39 2.6% 37 37.8% 6 50% benign(0.008) tolerated(1) - NULL TBC1D24 57465 genome.wustl.edu 37 16 2546985 2546985 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020705.1 +1 provisional p.T279M 0.139 11 0% 12 41.7% 10 40% possibly_damaging(0.861) tolerated(0.09) deleterious(0.629) superfamily_RabGAP_TBC KCTD5 54442 genome.wustl.edu 37 16 2747978 2747978 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018992.3 +1 validated p.R145* 1.000 217 0% 120 36.7% 13 0% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold KCTD5 54442 genome.wustl.edu 37 16 2752415 2752415 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018992.3 +1 validated p.V204G 1.000 29 0% 34 38.2% 34 85.2% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL SRRM2 23524 genome.wustl.edu 37 16 2807474 2807474 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016333.3 +1 validated p.Y82H 1.000 96 0% 55 32.7% 66 33.3% unknown(0) - - HMMPfam_cwf21 SRRM2 23524 genome.wustl.edu 37 16 2811914 2811914 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016333.3 +1 validated p.R462H 1.000 43 0% 53 35.8% 79 51.8% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2819228 2819228 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016333.3 +1 validated p.G2655V 0.999 63 0% 69 40.6% 327 47.4% probably_damaging(1) - - NULL PRSS41 360226 genome.wustl.edu 37 16 2854547 2854547 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135086.1 +1 provisional p.K246N 0.171 98 0% 75 38.7% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_SER PKMYT1 9088 genome.wustl.edu 37 16 3026881 3026881 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004203.3 -1 reviewed p.P54 1.000 7 0.000 10 0.500 43 37.2% - - - NULL OR1F1 4992 genome.wustl.edu 37 16 3254945 3254945 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012360.1 +1 provisional p.G233 0.003 129 0% 73 45.2% 1 100% - - - HMMPfam_7tm_1,superfamily_SSF81321 MEFV 4210 genome.wustl.edu 37 16 3304166 3304166 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000243.2 -1 reviewed p.S301L 0.001 37 0% 43 60.5% 0 - benign(0.011) deleterious(0) neutral(0.445) NULL ZNF75A 7627 genome.wustl.edu 37 16 3367379 3367379 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153028.2 +1 validated p.R134I 0.826 216 0% 128 46.9% 4 25% possibly_damaging(0.669) tolerated(0.05) deleterious(0.583) NULL OR2C1 4993 genome.wustl.edu 37 16 3406817 3406817 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012368.2 +1 validated p.R293W 0.988 12 0% 18 50% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Family A G protein-coupled receptor-like ZNF434 54925 genome.wustl.edu 37 16 3434673 3434673 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017810.2 -1 provisional p.G128 0.585 55 0% 36 13.9% 2 0% - - - NULL NLRC3 197358 genome.wustl.edu 37 16 3611706 3611706 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178844.2 -1 validated p.I671T 1.000 19 0% 30 40% 0 - possibly_damaging(0.768) deleterious(0.01) deleterious(0.691) HMMSmart_SM00368,superfamily_RNI-like SLX4 84464 genome.wustl.edu 37 16 3641304 3641304 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032444.2 -1 provisional p.V779M 0.018 53 0% 69 53.6% 4 50% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB SLX4 84464 genome.wustl.edu 37 16 3645678 3645678 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032444.2 -1 provisional p.P647 0.000 11 0% 23 52.2% 4 50% - - - NULL SLX4 84464 genome.wustl.edu 37 16 3658652 3658652 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032444.2 -1 provisional p.G105V 0.002 161 0% 157 13.4% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DNASE1 1773 genome.wustl.edu 37 16 3706644 3706644 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005223.3 +1 reviewed p.D109G 0.111 10 0% 16 43.8% 10 70% benign(0.235) tolerated(0.07) neutral(0.343) HMMPfam_Exo_endo_phos,superfamily_DNase I-like,HMMSmart_SM00476 ADCY9 115 genome.wustl.edu 37 16 4016628 4016628 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001116.2 -1 reviewed p.F1070L 1.000 37 0% 30 43.3% 13 76.9% possibly_damaging(0.823) tolerated(0.45) neutral(0.324) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain ADCY9 115 genome.wustl.edu 37 16 4024697 4024697 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001116.2 -1 reviewed p.S948L 0.027 204 0% 93 54.8% 10 10% benign(0) tolerated(0.27) neutral(0.034) NULL ADCY9 115 genome.wustl.edu 37 16 4164162 4164162 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001116.2 -1 reviewed p.R428C 1.000 46 0% 55 43.6% 4 25% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain ADCY9 115 genome.wustl.edu 37 16 4164166 4164166 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001116.2 -1 reviewed p.F426 0.823 40 0% 53 45.3% 7 57.1% - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain ADCY9 115 genome.wustl.edu 37 16 4164296 4164296 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001116.2 -1 reviewed p.R383H 1.000 170 0% 111 41.4% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain ADCY9 115 genome.wustl.edu 37 16 4165068 4165068 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001116.2 -1 reviewed p.A126T 1.000 14 0% 12 50% 5 40% possibly_damaging(0.952) tolerated(0.1) deleterious(0.682) NULL SRL 6345 genome.wustl.edu 37 16 4242360 4242360 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098814.1 -1 validated p.G406S 1.000 52 0% 50 60% 0 - probably_damaging(0.987) tolerated(0.59) neutral(0.441) NULL GLIS2 84662 genome.wustl.edu 37 16 4385069 4385069 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032575.2 +1 reviewed p.Q177H 1.000 15 0% 38 39.5% 11 36.3% benign(0.01) tolerated(0.15) neutral(0.241) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MGRN1 23295 genome.wustl.edu 37 16 4736259 4736259 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142290.1 +1 validated e17-1 1.000 14 0% 19 52.6% 2 50% - - - - NUDT16L1 84309 genome.wustl.edu 37 16 4745040 4745040 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032349.2 +1 provisional p.V166M 0.987 14 0% 13 38.5% 87 44.8% benign(0.189) deleterious(0.01) neutral(0.423) NULL ANKS3 124401 genome.wustl.edu 37 16 4747400 4747400 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133450.2 -1 provisional p.A610S 0.002 16 0% 11 36.4% 13 46.1% benign(0.059) tolerated(0.05) neutral(0.349) NULL GLYR1 84656 genome.wustl.edu 37 16 4867625 4867625 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032569.3 -1 validated p.T294A 1.000 93 0% 70 20% 50 30% probably_damaging(0.979) tolerated(0.05) deleterious(0.767) HMMPfam_NAD_binding_2,superfamily_NAD(P)-binding Rossmann-fold domains UBN1 29855 genome.wustl.edu 37 16 4910906 4910906 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079514.1 +1 validated p.A305T 0.998 59 0% 56 30.4% 15 20% possibly_damaging(0.896) tolerated(0.06) deleterious(0.676) NULL UBN1 29855 genome.wustl.edu 37 16 4924785 4924785 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079514.1 +1 validated p.G792R 0.010 19 0% 26 61.5% 26 50% possibly_damaging(0.808) deleterious(0.04) deleterious(0.653) NULL UBN1 29855 genome.wustl.edu 37 16 4925134 4925134 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079514.1 +1 validated p.I908T 0.799 38 0% 27 59.3% 13 38.4% benign(0.006) deleterious(0.04) neutral(0.349) NULL SEC14L5 9717 genome.wustl.edu 37 16 5040864 5040864 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014692.1 +1 validated p.A148T 1.000 38 0% 28 28.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PRELI SEC14L5 9717 genome.wustl.edu 37 16 5046855 5046855 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014692.1 +1 validated e7-1 1.000 163 0% 141 38.3% 0 - - - - - RBFOX1 54715 genome.wustl.edu 37 16 7680678 7680678 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145891.2 +1 reviewed p.T270 1.000 195 0% 97 39.2% 0 - - - - NULL GRIN2A 2903 genome.wustl.edu 37 16 9928046 9928046 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000833.3 -1 reviewed p.L565M 1.000 155 0% 63 49.2% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II TEKT5 146279 genome.wustl.edu 37 16 10788326 10788326 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144674.1 -1 provisional p.E135D 0.999 11 0% 21 23.8% 0 - benign(0.002) tolerated(0.61) neutral(0.004) HMMPfam_Tektin NUBP1 4682 genome.wustl.edu 37 16 10846484 10846484 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002484.2 +1 validated p.I92 0.121 349 0% 205 44.4% 10 20% - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases NUBP1 4682 genome.wustl.edu 37 16 10850599 10850599 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002484.2 +1 validated p.P138H 1.000 169 0% 118 37.3% 28 50% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases CIITA 4261 genome.wustl.edu 37 16 10996533 10996533 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000246.3 +1 reviewed p.S216L 0.005 75 0% 55 47.3% 4 0% benign(0.001) tolerated(0.17) neutral(0.059) NULL CIITA 4261 genome.wustl.edu 37 16 11000518 11000518 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000246.3 +1 reviewed p.R390Q 1.000 3 0.000 8 0.625 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL CLEC16A 23274 genome.wustl.edu 37 16 11114164 11114164 + Frame_Shift_Del DEL A A - novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015226.2 +1 validated p.E473fs 0.132 - - - - - - - - - NULL PRM3 58531 genome.wustl.edu 37 16 11367182 11367182 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021247.1 -1 provisional p.E91K 0.000 13 0% 14 50% 0 - benign(0.224) tolerated(0.35) neutral(0.042) NULL TXNDC11 51061 genome.wustl.edu 37 16 11829887 11829887 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015914.5 -1 provisional p.R153W 0.651 43 0% 29 13.8% 23 17.3% possibly_damaging(0.871) tolerated(0.13) deleterious(0.591) superfamily_Thiordxn-like_fd TNFRSF17 608 genome.wustl.edu 37 16 12060077 12060077 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001192.2 +1 reviewed p.T52 0.000 362 0% 193 42.5% 0 - - - - NULL SHISA9 729993 genome.wustl.edu 37 16 13297323 13297323 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145204.2 +1 validated p.P296L 1.000 96 1% 53 43.4% 3 0% probably_damaging(1) tolerated(0.7) deleterious(0.502) NULL ERCC4 2072 genome.wustl.edu 37 16 14042107 14042107 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005236.2 +1 reviewed p.T885M 0.001 104 0% 62 11.3% 1 0% benign(0.18) tolerated(0.07) neutral(0.336) NULL MKL2 57496 genome.wustl.edu 37 16 14306212 14306212 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014048.3 +1 validated p.P74 0.924 300 0% 106 32.1% 8 62.5% - - - HMMSmart_RPEL MKL2 57496 genome.wustl.edu 37 16 14340434 14340434 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014048.3 +1 validated p.S439 0.000 40 2.5% 30 60% 7 42.8% - - - superfamily_SSF68906 MKL2 57496 genome.wustl.edu 37 16 14340952 14340952 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014048.3 +1 validated p.R612Q 0.841 15 6.7% 15 40% 7 42.8% possibly_damaging(0.798) tolerated(0.6) neutral(0.305) NULL MKL2 57496 genome.wustl.edu 37 16 14354882 14354882 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014048.3 +1 validated p.Q911* 1.000 92 0% 42 33.3% 9 44.4% - - - NULL PARN 5073 genome.wustl.edu 37 16 14722027 14722027 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002582.2 -1 reviewed e3+2 0.997 243 0% 131 25.2% 0 - - - - - PDXDC1 23042 genome.wustl.edu 37 16 15129390 15129390 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015027.2 +1 validated p.R696H 0.002 39 0% 29 17.2% 69 21.7% benign(0.037) tolerated(0.23) neutral(0.044) NULL C16orf45 89927 genome.wustl.edu 37 16 15661905 15661905 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033201.2 +1 validated p.A99V 1.000 57 0% 32 43.8% 2 0% possibly_damaging(0.778) tolerated(0.23) neutral(0.332) NULL KIAA0430 9665 genome.wustl.edu 37 16 15695932 15695932 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014647.3 -1 validated p.A1514 1.000 184 0% 113 38.9% 8 37.5% - - - NULL KIAA0430 9665 genome.wustl.edu 37 16 15709801 15709801 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014647.3 -1 validated p.G1047C 0.988 122 0% 72 40.3% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0430 9665 genome.wustl.edu 37 16 15714314 15714314 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014647.3 -1 validated p.E905G 1.000 126 0% 51 52.9% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0430 9665 genome.wustl.edu 37 16 15719457 15719457 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000344181 -1 known e6+2 0.997 232 0% 105 45.7% 5 40% - - - - NDE1 54820 genome.wustl.edu 37 16 15785181 15785181 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143979.1 +1 reviewed e5+1 1.000 16 0% 10 50% 2 100% - - - - MYH11 4629 genome.wustl.edu 37 16 15814849 15814849 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040114.1 -1 reviewed p.T1553 0.045 49 0% 38 44.7% 6 0% - - - HMMPfam_Myosin_tail_1 MYH11 4629 genome.wustl.edu 37 16 15835377 15835377 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040114.1 -1 reviewed p.E941D 1.000 54 0% 31 45.2% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MYH11 4629 genome.wustl.edu 37 16 15835508 15835508 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040114.1 -1 reviewed p.L898 0.998 42 0% 31 32.3% 0 - - - - NULL MYH11 4629 genome.wustl.edu 37 16 15854402 15854402 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040114.1 -1 reviewed p.E422* 1.000 287 0% 199 41.7% 1 0% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH11 4629 genome.wustl.edu 37 16 15872638 15872638 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040114.1 -1 reviewed p.T270 0.723 76 0% 50 52% 2 0% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 FOPNL 123811 genome.wustl.edu 37 16 15967362 15967362 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144600.2 -1 provisional p.R145I 0.017 103 0% 43 41.9% 13 53.8% benign(0.314) tolerated(0.16) neutral(0.158) NULL ABCC1 4363 genome.wustl.edu 37 16 16165547 16165547 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004996.3 +1 reviewed p.L625M 1.000 69 0% 52 19.2% 13 15.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC6 368 genome.wustl.edu 37 16 16315587 16315587 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001171.5 -1 reviewed p.V46 1.000 49 0% 38 42.1% 2 50% - - - NULL SMG1 23049 genome.wustl.edu 37 16 18849402 18849402 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015092.4 -1 reviewed p.Q2449 1.000 23 0% 17 64.7% 12 50% - - - HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) SMG1 23049 genome.wustl.edu 37 16 18851222 18851222 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015092.4 -1 reviewed p.R2248H 1.000 141 0% 64 21.9% 12 41.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) SMG1 23049 genome.wustl.edu 37 16 18902198 18902198 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015092.4 -1 reviewed p.V199M 1.000 354 0% 167 18% 6 0% possibly_damaging(0.684) deleterious(0.05) deleterious(0.589) superfamily_ARM repeat SMG1 23049 genome.wustl.edu 37 16 18903639 18903639 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015092.4 -1 reviewed p.S150 1.000 158 0% 97 44.3% 2 50% - - - superfamily_ARM repeat TMC7 79905 genome.wustl.edu 37 16 19067985 19067985 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024847.3 +1 validated p.E665K 1.000 57 0% 37 35.1% 5 60% possibly_damaging(0.598) tolerated(0.14) neutral(0.457) NULL SYT17 51760 genome.wustl.edu 37 16 19195144 19195144 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016524.2 +1 validated p.R209M 0.360 19 0% 24 25% 18 44.4% benign(0.269) deleterious(0.05) neutral(0.374) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SYT17 51760 genome.wustl.edu 37 16 19236146 19236146 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016524.2 +1 validated p.S405N 1.000 132 0% 59 33.9% 8 50% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB GDE1 51573 genome.wustl.edu 37 16 19533212 19533212 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016641.3 -1 validated p.T25 0.963 5 0.000 7 0.571 32 40.6% - - - NULL CCP110 9738 genome.wustl.edu 37 16 19552005 19552005 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014711.4 +1 validated p.M649V 0.998 228 0% 76 34.2% 8 12.5% benign(0.001) tolerated(0.05) neutral(0.345) NULL C16orf88 400506 genome.wustl.edu 37 16 19725739 19725739 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012991.2 -1 provisional p.E207* 0.924 102 0% 88 48.9% 8 0% - - - NULL IQCK 124152 genome.wustl.edu 37 16 19867828 19867828 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153208.1 +1 provisional p.D274 0.004 217 0% 129 45% 26 53.8% - - - NULL GPRC5B 51704 genome.wustl.edu 37 16 19883882 19883882 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016235.1 -1 reviewed p.H96Y 0.995 12 0% 15 40% 29 58.6% benign(0.141) tolerated(1) neutral(0.012) HMMPfam_7tm_3 GPR139 124274 genome.wustl.edu 37 16 20043823 20043823 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002911.2 -1 validated p.V99A 0.381 109 0% 52 36.5% 0 - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR139 124274 genome.wustl.edu 37 16 20084873 20084873 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002911.2 -1 validated p.A22 0.999 5 0.000 9 0.778 0 - - - - NULL PDILT 204474 genome.wustl.edu 37 16 20371961 20371961 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174924.1 -1 provisional p.E479* 0.963 271 0% 116 37.9% 0 - - - - superfamily_Thiordxn-like_fd PDILT 204474 genome.wustl.edu 37 16 20380850 20380850 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174924.1 -1 provisional p.K360 0.109 228 0% 121 43.8% 0 - - - - superfamily_Thiordxn-like_fd PDILT 204474 genome.wustl.edu 37 16 20380971 20380971 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174924.1 -1 provisional p.G320E 0.000 156 0% 90 37.8% 0 - benign(0.43) tolerated(1) neutral(0.140) superfamily_Thiordxn-like_fd ACSM5 54988 genome.wustl.edu 37 16 20432611 20432611 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017888.2 +1 validated p.T219A 0.986 42 0% 24 37.5% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM2A 123876 genome.wustl.edu 37 16 20482950 20482950 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010845.2 +1 validated p.A278G 0.000 280 0% 124 36.3% 0 - benign(0) tolerated(0.57) neutral(0.006) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM2B 348158 genome.wustl.edu 37 16 20556547 20556547 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105069.1 -1 validated p.G405S 0.511 133 0% 73 43.8% 0 - possibly_damaging(0.899) deleterious(0.02) deleterious(0.739) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM2B 348158 genome.wustl.edu 37 16 20566602 20566602 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105069.1 -1 validated p.K195N 0.019 182 0% 97 37.1% 0 - benign(0.01) tolerated(0.36) neutral(0.021) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM1 116285 genome.wustl.edu 37 16 20682914 20682914 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052956.2 -1 validated p.G231C 0.995 51 0% 33 39.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like ACSM3 6296 genome.wustl.edu 37 16 20807698 20807698 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005622.3 +1 validated p.K521Q 1.000 438 0% 119 39.5% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acetyl-CoA synthetase-like DCUN1D3 123879 genome.wustl.edu 37 16 20871221 20871221 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173475.2 -1 validated p.E301A 1.000 59 0% 55 12.7% 6 16.6% possibly_damaging(0.454) deleterious(0.05) deleterious(0.494) NULL DNAH3 55567 genome.wustl.edu 37 16 20952755 20952755 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017539.1 -1 provisional p.T3874 0.301 113 0% 54 46.3% 0 - - - - HMMPfam_Dynein_heavy DNAH3 55567 genome.wustl.edu 37 16 21063000 21063000 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017539.1 -1 provisional p.R1410H 1.000 17 0% 25 60% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21080840 21080840 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017539.1 -1 provisional p.L1093 1.000 225 0% 116 25% 0 - - - - HMMPfam_DHC_N2 DNAH3 55567 genome.wustl.edu 37 16 21123343 21123343 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017539.1 -1 provisional p.E631* 0.859 157 0% 59 47.5% 0 - - - - NULL DNAH3 55567 genome.wustl.edu 37 16 21132082 21132082 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017539.1 -1 provisional p.A560T 0.132 52 0% 41 12.2% 0 - unknown(0) - - NULL DNAH3 55567 genome.wustl.edu 37 16 21136675 21136675 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017539.1 -1 provisional p.A409T 1.000 55 0% 37 43.2% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL DNAH3 55567 genome.wustl.edu 37 16 21147693 21147693 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017539.1 -1 provisional p.V280M 0.000 120 0% 64 39.1% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL ENSG00000217794 0 genome.wustl.edu 37 16 21558782 21558782 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000403120 -1 known p.L72 0.714 27 0% 25 32% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ENSG00000179038 0 genome.wustl.edu 37 16 21809069 21809069 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000314442 -1 known e4+2 1.000 88 0% 33 57.6% 0 - - - - - UQCRC2 7385 genome.wustl.edu 37 16 21983356 21983356 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003366.2 +1 validated p.L293 0.719 40 0% 33 42.4% 386 43.2% - - - HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase VWA3A 146177 genome.wustl.edu 37 16 22128141 22128141 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173615.3 +1 validated p.L293I 0.005 110 0% 54 48.1% 0 - benign(0.271) tolerated(0.44) neutral(0.042) NULL VWA3A 146177 genome.wustl.edu 37 16 22134429 22134429 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173615.3 +1 validated p.W460* 1.000 75 0% 39 33.3% 0 - - - - NULL VWA3A 146177 genome.wustl.edu 37 16 22145716 22145716 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173615.3 +1 validated p.S699F 0.113 81 0% 60 13.3% 0 - benign(0.001) tolerated(0.15) neutral(0.241) NULL RRN3P3 100131998 genome.wustl.edu 37 16 22447069 22447069 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000415797 -1 known p.I22T 1.000 103 0% 64 57.8% 1 0% - - - HMMPfam_RRN3 HS3ST2 9956 genome.wustl.edu 37 16 22926795 22926795 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006043.1 +1 reviewed p.P339H 0.748 201 0% 132 11.4% 0 - possibly_damaging(0.823) deleterious(0.01) deleterious(0.717) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 USP31 57478 genome.wustl.edu 37 16 23091401 23091401 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020718.3 -1 validated p.S681N 1.000 60 0% 46 45.7% 3 0% benign(0.156) tolerated(0.1) neutral(0.300) HMMPfam_UCH,superfamily_Cysteine proteinases USP31 57478 genome.wustl.edu 37 16 23098488 23098488 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020718.3 -1 validated p.R516H 1.000 50 0% 19 47.4% 3 33.3% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_UCH,superfamily_Cysteine proteinases SCNN1G 6340 genome.wustl.edu 37 16 23200705 23200705 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039.3 +1 reviewed p.R111C 0.677 32 0% 24 41.7% 7 28.5% possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_ASC COG7 91949 genome.wustl.edu 37 16 23415063 23415063 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153603.3 -1 reviewed p.S585 0.001 49 0% 27 40.7% 21 66.6% - - - HMMPfam_COG7 ENSG00000245868 0 genome.wustl.edu 37 16 23490043 23490043 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000498959 +1 novel NULL 0.000 10 0% 10 60% 2 50% unknown(0) - - - EARS2 124454 genome.wustl.edu 37 16 23536588 23536588 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083614.1 -1 provisional p.R489W 0.997 162 0% 102 40.2% 19 36.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_tRNA-synt_bind NDUFAB1 4706 genome.wustl.edu 37 16 23596714 23596714 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005003.2 -1 validated p.L108M 1.000 175 0% 117 41.9% 190 47.3% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) PatternScan_PHOSPHOPANTETHEINE,HMMPfam_PP-binding,superfamily_ACP-like ERN2 10595 genome.wustl.edu 37 16 23707231 23707231 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033266.3 -1 validated p.G580R 0.995 14 0% 17 35.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PRKCB 5579 genome.wustl.edu 37 16 24192159 24192159 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002738.6 +1 reviewed p.K481 1.000 153 0% 72 38.9% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PRKCB 5579 genome.wustl.edu 37 16 24202544 24202544 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002738.6 +1 reviewed p.P619Q 1.000 128 0% 77 48.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00133,superfamily_Protein kinase-like (PK-like) RBBP6 5930 genome.wustl.edu 37 16 24573339 24573339 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006910.4 +1 reviewed p.P382 0.043 197 0% 97 42.3% 16 43.7% - - - NULL RBBP6 5930 genome.wustl.edu 37 16 24581796 24581796 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006910.4 +1 reviewed p.S1262I 1.000 339 0.3% 182 50.5% 30 53.3% probably_damaging(0.996) - - NULL RBBP6 5930 genome.wustl.edu 37 16 24582255 24582255 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006910.4 +1 reviewed p.R1290* 0.997 87 0% 41 46.3% 29 48.2% - - - NULL ARHGAP17 55114 genome.wustl.edu 37 16 24953366 24953366 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006634.1 -1 validated p.E478K 1.000 108 0% 69 49.3% 52 46.1% probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL ARHGAP17 55114 genome.wustl.edu 37 16 24955110 24955110 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006634.1 -1 validated p.D439N 0.997 59 0% 26 42.3% 46 43.4% benign(0.018) deleterious(0.04) neutral(0.349) HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP17 55114 genome.wustl.edu 37 16 24988630 24988630 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006634.1 -1 validated p.R35H 1.000 12 0% 15 40% 12 33.3% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_BAR,HMMSmart_SM00721 ZKSCAN2 342357 genome.wustl.edu 37 16 25258226 25258226 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012981.4 -1 validated p.R431C 0.933 151 0% 68 55.9% 2 50% benign(0.265) tolerated(0.08) neutral(0.328) NULL HS3ST4 9951 genome.wustl.edu 37 16 26147534 26147534 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000331351 +1 known p.D446Y 1.000 94 0% 37 37.8% 0 - possibly_damaging(0.926) deleterious(0) deleterious(0.819) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases JMJD5 79831 genome.wustl.edu 37 16 27231783 27231783 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145348.1 +1 reviewed p.H393Y 0.998 65 0% 53 45.3% 2 0% benign(0.005) deleterious(0.04) neutral(0.349) HMMSmart_JmjC,superfamily_SSF51197 JMJD5 79831 genome.wustl.edu 37 16 27232047 27232047 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145348.1 +1 reviewed p.S454L 1.000 82 0% 64 14.1% 2 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_JmjC GTF3C1 2975 genome.wustl.edu 37 16 27509985 27509985 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001520.3 -1 validated p.R711C 0.999 55 0% 53 39.6% 24 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0556 23247 genome.wustl.edu 37 16 27629821 27629821 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015202.2 +1 validated p.R47W 1.000 108 0% 72 44.4% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0556 23247 genome.wustl.edu 37 16 27761439 27761439 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015202.2 +1 validated p.T1053M 1.000 32 0% 42 45.2% 6 50% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_Galactose-binding domain-like KIAA0556 23247 genome.wustl.edu 37 16 27763188 27763188 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015202.2 +1 validated p.A1165 0.329 17 0% 24 45.8% 7 42.8% - - - NULL ENSG00000196585 0 genome.wustl.edu 37 16 28425324 28425324 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000357646 +1 known p.V101M 0.976 109 0% 108 30.6% 1 0% - - - NULL CLN3 1201 genome.wustl.edu 37 16 28493942 28493942 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000354630 -1 known p.R281Q 0.013 76 0% 66 34.8% 4 50% benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_CLN3,superfamily_MFS_gen_substrate_transporter CLN3 1201 genome.wustl.edu 37 16 28500631 28500631 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000086.2 -1 reviewed p.T68A 0.165 94 0% 62 33.9% 67 43.2% benign(0.02) tolerated(1) neutral(0.001) HMMPfam_CLN3,superfamily_MFS general substrate transporter APOBR 55911 genome.wustl.edu 37 16 28506979 28506979 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018690.2 +1 reviewed p.T206M 0.000 108 0% 72 52.8% 2 0% benign(0.191) deleterious(0.02) neutral(0.401) NULL ATXN2L 11273 genome.wustl.edu 37 16 28845676 28845676 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148414.1 +1 reviewed p.Y729H 1.000 42 0% 47 27.7% 126 43.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ATP2A1 487 genome.wustl.edu 37 16 28895931 28895931 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173201.2 +1 reviewed p.A167T 0.002 18 0% 17 23.5% 2 100% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M ATP2A1 487 genome.wustl.edu 37 16 28913586 28913586 + Silent SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173201.2 +1 reviewed p.G801 1.000 12 0% 20 35% 3 33.3% - - - HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M CD19 930 genome.wustl.edu 37 16 28943908 28943908 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001770.5 +1 reviewed p.G110 0.996 8 0.000 12 0.333 0 - - - - HMMSmart_IG,superfamily_SSF48726 SPNS1 83985 genome.wustl.edu 37 16 28992843 28992843 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142448.1 +1 validated p.R239Q 0.820 33 0% 37 40.5% 45 53.3% benign(0) tolerated(0.67) neutral(0.003) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RRN3P2 653390 genome.wustl.edu 37 16 29107549 29107549 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000415221 +1 known p.S295I 1.000 99 0% 41 9.8% 7 0% benign(0.418) deleterious(0) deleterious(0.580) HMMPfam_RRN3 MVP 9961 genome.wustl.edu 37 16 29851667 29851667 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005115.3 +1 reviewed p.R360C 1.000 14 0% 17 52.9% 35 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Vault MVP 9961 genome.wustl.edu 37 16 29853263 29853263 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005115.3 +1 reviewed p.S488 0.001 14 0% 12 50% 57 26.3% - - - NULL SEZ6L2 26470 genome.wustl.edu 37 16 29889645 29889645 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201575.2 -1 validated p.V559I 1.000 36 0% 34 47.1% 36 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TAOK2 9344 genome.wustl.edu 37 16 29990748 29990748 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016151.2 +1 validated p.E192K 1.000 74 1.4% 81 48.1% 47 40.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HIRIP3 8479 genome.wustl.edu 37 16 30004975 30004975 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003609.2 -1 reviewed p.A465V 0.506 22 0% 30 33.3% 21 47.6% possibly_damaging(0.721) tolerated(0.15) deleterious(0.502) NULL HIRIP3 8479 genome.wustl.edu 37 16 30006532 30006532 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003609.2 -1 reviewed p.E65K 0.904 60 0% 74 48.6% 12 75% benign(0.002) tolerated(0.06) neutral(0.323) NULL C16orf92 146378 genome.wustl.edu 37 16 30035061 30035061 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001109660.1 +1 predicted p.K48N 0.000 23 0% 39 46.2% 0 - benign(0.15) tolerated(0.16) neutral(0.072) NULL TBX6 6911 genome.wustl.edu 37 16 30098117 30098117 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004608.3 -1 reviewed p.E299* 0.726 17 0% 18 44.4% 1 100% - - - NULL CORO1A 11151 genome.wustl.edu 37 16 30198425 30198425 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007074.2 +1 validated p.E173* 0.751 23 0% 38 23.7% 51 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like TBC1D10B 26000 genome.wustl.edu 37 16 30369801 30369801 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015527.3 -1 validated p.R631W 1.000 9 0.000 13 0.308 41 41.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TBC1D10B 26000 genome.wustl.edu 37 16 30369827 30369827 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015527.3 -1 validated p.R622Q 1.000 13 0% 17 41.2% 40 50% benign(0.164) tolerated(0.13) neutral(0.268) NULL ZNF48 197407 genome.wustl.edu 37 16 30409704 30409704 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152652.1 +1 provisional p.R378H 0.966 15 0% 18 27.8% 27 37% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SEPHS2 22928 genome.wustl.edu 37 16 30456394 30456394 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418751 -1 known p.P101S 1.000 44 0% 32 53.1% 63 47.6% probably_damaging(0.965) deleterious(0) deleterious(0.851) superfamily_PurM_N-like ITGAL 3683 genome.wustl.edu 37 16 30486865 30486865 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002209.2 +1 reviewed p.M97I 1.000 166 0% 106 43.4% 0 - benign(0.283) deleterious(0.01) deleterious(0.493) superfamily_Integrin alpha N-terminal domain ITGAL 3683 genome.wustl.edu 37 16 30505636 30505636 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002209.2 +1 reviewed p.P439 0.001 18 0.000 9 0.444 2 0% - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ZNF764 92595 genome.wustl.edu 37 16 30567240 30567240 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033410.3 -1 validated p.V168I 0.813 5 0.000 10 0.500 4 75% benign(0.051) tolerated(1) neutral(0.003) NULL SRCAP 10847 genome.wustl.edu 37 16 30718593 30718593 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006662.2 +1 validated p.R132 0.991 33 0% 37 35.1% 24 45.8% - - - HMMPfam_HSA,HMMSmart_SM00573 SRCAP 10847 genome.wustl.edu 37 16 30740702 30740702 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006662.2 +1 validated p.V1979A 1.000 35 0% 34 47.1% 38 34.2% unknown(0) - - NULL SRCAP 10847 genome.wustl.edu 37 16 30747580 30747580 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006662.2 +1 validated p.E2263 1.000 47 0% 28 14.3% 46 21.7% - - - NULL FBXL19 54620 genome.wustl.edu 37 16 30953775 30953775 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000427128 +1 known p.A427T 1.000 21 0% 18 55.6% 51 50.9% - - - superfamily_RNI-like ORAI3 93129 genome.wustl.edu 37 16 30964650 30964650 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152288.2 +1 validated p.A125S 1.000 26 0% 23 65.2% 46 43.4% possibly_damaging(0.945) tolerated(0.06) deleterious(0.712) HMMPfam_DUF1650 ORAI3 93129 genome.wustl.edu 37 16 30964667 30964667 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152288.2 +1 validated p.H130 1.000 21 0% 28 32.1% 48 43.7% - - - HMMPfam_DUF1650 SETD1A 9739 genome.wustl.edu 37 16 30976167 30976167 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014712.1 +1 provisional p.A368 0.950 78 0% 64 35.9% 14 28.5% - - - NULL SETD1A 9739 genome.wustl.edu 37 16 30977237 30977237 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014712.1 +1 provisional p.S679P 1.000 20 0% 13 46.2% 6 33.3% possibly_damaging(0.903) - - NULL HSD3B7 80270 genome.wustl.edu 37 16 30998198 30998198 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025193.3 +1 reviewed p.R190H 1.000 7 0.000 18 0.278 26 26.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd STX4 6810 genome.wustl.edu 37 16 31045574 31045574 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004604.3 +1 provisional p.K54E 0.709 49 0% 56 32.1% 44 38.6% possibly_damaging(0.797) tolerated(0.08) deleterious(0.599) HMMPfam_Syntaxin,HMMSmart_SynN,superfamily_t-snare ZNF646 9726 genome.wustl.edu 37 16 31088823 31088823 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014699.3 +1 validated p.R393Q 0.993 10 0% 12 66.7% 7 100% probably_damaging(0.992) tolerated(0.25) deleterious(0.484) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF646 9726 genome.wustl.edu 37 16 31089102 31089102 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014699.3 +1 validated p.S486N 1.000 19 0% 26 42.3% 8 62.5% probably_damaging(0.989) tolerated(0.06) deleterious(0.762) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF646 9726 genome.wustl.edu 37 16 31091074 31091074 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014699.3 +1 validated p.G1143 0.000 31 0% 20 60% 1 0% - - - NULL ZNF646 9726 genome.wustl.edu 37 16 31092203 31092203 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014699.3 +1 validated p.D1520Y 0.012 20 0% 37 54.1% 15 66.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL FUS 2521 genome.wustl.edu 37 16 31201716 31201716 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004960.3 +1 reviewed p.N430T 1.000 124 0% 101 44.6% 490 46.1% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1,superfamily_Znf265 first zinc-finger domain ITGAM 3684 genome.wustl.edu 37 16 31273104 31273104 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000632.3 +1 reviewed p.Q40 0.978 67 0% 40 52.5% 0 - - - - HMMSmart_Int_alpha,superfamily_SSF69318 ITGAM 3684 genome.wustl.edu 37 16 31282320 31282320 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000632.3 +1 reviewed p.S158Y 1.000 145 0% 82 40.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300,superfamily_SSF69318 ITGAM 3684 genome.wustl.edu 37 16 31336030 31336030 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000632.3 +1 reviewed p.G739E 0.997 37 0% 35 34.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGAM 3684 genome.wustl.edu 37 16 31340591 31340591 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000632.3 +1 reviewed p.E945D 0.993 136 0% 92 37% 4 0% possibly_damaging(0.538) tolerated(0.68) neutral(0.184) HMMPfam_Integrin_alpha2 ITGAX 3687 genome.wustl.edu 37 16 31368363 31368363 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000887.3 +1 reviewed p.A87T 1.000 14 0% 17 47.1% 0 - probably_damaging(0.996) tolerated(0.34) deleterious(0.485) superfamily_SSF69318 ITGAD 3681 genome.wustl.edu 37 16 31426282 31426282 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005353.2 +1 validated p.A751 0.001 49 0% 25 32% 0 - - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains TGFB1I1 7041 genome.wustl.edu 37 16 31485039 31485039 + Frame_Shift_Del DEL A A - novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042454.2 +1 reviewed p.K56fs 1.000 - - - - - - - - - NULL C16orf58 64755 genome.wustl.edu 37 16 31502228 31502228 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022744.2 -1 validated p.T445 0.014 38 0% 20 55% 53 16.9% - - - HMMPfam_DUF647 C16orf58 64755 genome.wustl.edu 37 16 31510621 31510621 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022744.2 -1 validated e5+2 1.000 51 0% 42 42.9% 14 100% - - - - IGHV3OR16-8 388255 genome.wustl.edu 37 16 33647503 33647503 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000438532 -1 known p.P33S 1.000 128 0% 94 38.3% 0 - possibly_damaging(0.898) deleterious(0.02) deleterious(0.738) HMMPfam_V-set,superfamily_Immunoglobulin ENSG00000226511 0 genome.wustl.edu 37 16 33741077 33741077 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000450856 -1 known p.A31V 0.012 135 0% 95 26.3% 0 - benign(0) deleterious(0) neutral(0.445) HMMPfam_V-set,superfamily_Immunoglobulin LOC100287647 100287647 genome.wustl.edu 37 16 33941905 33941905 + Missense_Mutation SNP C C T rs458474 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343473.1 +1 model p.A116V 0.998 721 0% 389 11.3% 0 - - - - NULL ENSG00000200434 0 genome.wustl.edu 37 16 33965444 33965444 + RNA SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000363564 +1 novel NULL 1.000 47 0% 27 14.8% 0 - - - - - VPS35 55737 genome.wustl.edu 37 16 46712983 46712983 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018206.4 -1 reviewed p.Q198* 1.000 549 0% 228 46.5% 45 4.4% - - - HMMPfam_Vps35 NETO2 81831 genome.wustl.edu 37 16 47162416 47162416 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018092.3 -1 reviewed p.R101W 1.000 211 0% 88 46.6% 20 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ABCC11 85320 genome.wustl.edu 37 16 48249202 48249202 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032583.3 -1 reviewed p.S335 0.248 178 0.6% 102 41.2% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain SIAH1 6477 genome.wustl.edu 37 16 48395905 48395905 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006610.1 -1 reviewed p.M176I 1.000 134 0% 86 38.4% 47 38.2% benign(0.003) deleterious(0) neutral(0.445) superfamily_Traf_like,HMMPfam_Sina N4BP1 9683 genome.wustl.edu 37 16 48577000 48577000 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153029.3 -1 validated p.L836I 0.690 79 0% 68 38.2% 31 54.8% possibly_damaging(0.737) tolerated(0.12) deleterious(0.530) NULL CBLN1 869 genome.wustl.edu 37 16 49314895 49314895 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004352.3 -1 validated p.R108H 1.000 188 0% 165 40.6% 2 100% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like HEATR3 55027 genome.wustl.edu 37 16 50104111 50104111 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182922.2 +1 provisional p.N141T 0.925 234 0% 121 37.2% 12 25% possibly_damaging(0.923) tolerated(0.44) neutral(0.385) superfamily_ARM repeat ADCY7 113 genome.wustl.edu 37 16 50324514 50324514 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114.3 +1 reviewed p.A106 0.104 36 0% 23 47.8% 19 52.6% - - - NULL ADCY7 113 genome.wustl.edu 37 16 50326717 50326717 + Missense_Mutation SNP G G A rs141712991 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114.3 +1 reviewed p.R223H 1.000 12 0% 15 53.3% 18 38.8% possibly_damaging(0.938) deleterious(0.01) deleterious(0.789) NULL BRD7 29117 genome.wustl.edu 37 16 50367604 50367604 + Missense_Mutation SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013263.3 -1 validated p.D298H 1.000 151 0% 89 43.8% 36 50% possibly_damaging(0.948) tolerated(0.11) deleterious(0.663) NULL SNX20 124460 genome.wustl.edu 37 16 50702975 50702975 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153337.2 -1 validated p.P123S 0.144 86 0% 79 34.2% 0 - unknown(0) - - NULL NOD2 64127 genome.wustl.edu 37 16 50733842 50733842 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022162.1 +1 reviewed p.P173S 1.000 20 0% 24 20.8% 2 50% probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_CARD,superfamily_DEATH domain NOD2 64127 genome.wustl.edu 37 16 50744526 50744526 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022162.1 +1 reviewed p.R235H 1.000 31 0% 27 55.6% 0 - benign(0.355) tolerated(0.16) neutral(0.172) NULL CYLD 1540 genome.wustl.edu 37 16 50785641 50785641 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015247.2 +1 reviewed p.A211T 0.361 159 0% 94 11.7% 5 0% benign(0) tolerated(0.1) neutral(0.286) superfamily_Cap-Gly domain TOX3 27324 genome.wustl.edu 37 16 52502440 52502440 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080430.2 -1 reviewed p.A45V 0.999 217 0% 102 11.8% 12 8.3% possibly_damaging(0.86) tolerated(0.08) deleterious(0.633) NULL CHD9 80205 genome.wustl.edu 37 16 53190477 53190477 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025134.4 +1 validated p.H159R 1.000 111 0% 68 47.1% 6 83.3% possibly_damaging(0.918) tolerated(0.75) neutral(0.370) NULL CHD9 80205 genome.wustl.edu 37 16 53190576 53190576 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025134.4 +1 validated p.S192Y 1.000 186 0% 101 52.5% 1 0% possibly_damaging(0.902) deleterious(0) deleterious(0.801) NULL CHD9 80205 genome.wustl.edu 37 16 53307540 53307540 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025134.4 +1 validated p.L1574I 0.900 97 0% 40 10% 3 33.3% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_SSF52540 CHD9 80205 genome.wustl.edu 37 16 53330904 53330904 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025134.4 +1 validated p.V1849 1.000 204 0% 102 20.6% 7 28.5% - - - superfamily_SSF52540 RBL2 5934 genome.wustl.edu 37 16 53476577 53476577 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005611.3 +1 validated p.E127K 1.000 138 0% 65 43.1% 4 75% benign(0.406) deleterious(0.03) deleterious(0.495) HMMSmart_CYCLIN RBL2 5934 genome.wustl.edu 37 16 53480955 53480955 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005611.3 +1 validated p.R192* 1.000 314 0.3% 171 50.3% 9 22.2% - - - NULL RBL2 5934 genome.wustl.edu 37 16 53513805 53513805 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005611.3 +1 validated p.R928K 1.000 278 0% 91 40.7% 20 15% possibly_damaging(0.887) deleterious(0.03) deleterious(0.712) HMMPfam_RB_B,HMMSmart_CYCLIN,superfamily_Cyclin_like IRX3 79191 genome.wustl.edu 37 16 54317617 54317617 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024336.2 -1 validated p.S496L 0.993 63 0% 60 41.7% 7 14.2% unknown(0) deleterious(0) - NULL IRX3 79191 genome.wustl.edu 37 16 54319273 54319273 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024336.2 -1 validated p.V174M 1.000 60 0% 86 53.5% 28 39.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 IRX5 10265 genome.wustl.edu 37 16 54966805 54966805 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005853.5 +1 validated p.G215 0.963 18 0% 23 52.2% 21 52.3% - - - NULL CES5A 221223 genome.wustl.edu 37 16 55883566 55883566 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143685.1 -1 validated p.A465T 0.931 32 0% 15 26.7% 0 - benign(0.344) tolerated(0.12) neutral(0.369) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases OGFOD1 55239 genome.wustl.edu 37 16 56504657 56504657 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018233.3 +1 validated p.S413 0.000 133 0% 78 47.4% 36 52.7% - - - HMMPfam_Ofd1_CTDD BBS2 583 genome.wustl.edu 37 16 56519641 56519641 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031885.3 -1 reviewed p.M640I 1.000 204 0% 79 39.2% 16 50% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL NUP93 9688 genome.wustl.edu 37 16 56864471 56864471 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014669.3 +1 validated p.A320V 1.000 43 0% 50 38% 42 64.2% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Nic96 SLC12A3 6559 genome.wustl.edu 37 16 56901108 56901108 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000339.2 +1 reviewed p.G137S 1.000 23 0% 24 16.7% 0 - possibly_damaging(0.951) deleterious(0) deleterious(0.839) NULL SLC12A3 6559 genome.wustl.edu 37 16 56906603 56906603 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000339.2 +1 reviewed p.R334W 0.999 35 0% 41 19.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease CETP 1071 genome.wustl.edu 37 16 57009051 57009051 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000078.2 +1 reviewed p.E323D 0.016 95 0% 81 54.3% 0 - benign(0) tolerated(0.34) neutral(0.023) HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI NLRC5 84166 genome.wustl.edu 37 16 57054763 57054763 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032206.3 +1 validated p.T47S 0.000 41 0% 27 37% 1 0% benign(0.013) tolerated(0.26) neutral(0.035) NULL NLRC5 84166 genome.wustl.edu 37 16 57075908 57075908 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032206.3 +1 validated p.A1015V 0.025 29 0% 16 37.5% 6 16.6% possibly_damaging(0.513) deleterious(0.02) deleterious(0.555) HMMSmart_SM00368,superfamily_RNI-like NLRC5 84166 genome.wustl.edu 37 16 57103772 57103772 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000436936 +1 known p.R1530* 0.004 18 0% 13 61.5% 3 0% - - - NULL CPNE2 221184 genome.wustl.edu 37 16 57144820 57144820 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152727.4 +1 reviewed p.G56S 0.999 65 0% 47 17% 55 12.7% benign(0.015) tolerated(0.11) neutral(0.272) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CPNE2 221184 genome.wustl.edu 37 16 57147257 57147257 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152727.4 +1 reviewed p.V80M 0.243 41 0% 47 12.8% 69 4.3% benign(0.017) tolerated(0.1) neutral(0.287) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CX3CL1 6376 genome.wustl.edu 37 16 57416606 57416606 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002996.3 +1 provisional p.V286I 0.000 5 0.000 11 0.455 10 30% benign(0) tolerated(0.63) neutral(0.004) NULL POLR2C 5432 genome.wustl.edu 37 16 57500137 57500137 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032940.2 +1 reviewed p.R86W 0.997 529 0% 371 43.9% 53 62.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RBP11-like subunits of RNA polymerase,HMMPfam_RNA_pol_L,HMMPfam_RNA_pol_A_bac,superfamily_Insert subdomain of RNA polymerase alpha subunit,HMMSmart_SM00662 DOK4 55715 genome.wustl.edu 37 16 57509835 57509835 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018110.3 -1 validated p.S34F 1.000 20 0% 29 27.6% 15 60% possibly_damaging(0.628) deleterious(0.01) deleterious(0.625) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 GPR114 221188 genome.wustl.edu 37 16 57601980 57601980 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153837.1 +1 provisional p.R345H 0.001 43 0% 33 30.3% 1 0% benign(0.364) tolerated(0.13) neutral(0.368) HMMPfam_7tm_2 GPR56 9289 genome.wustl.edu 37 16 57693377 57693377 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145771.1 +1 reviewed p.V453I 0.992 11 0.000 9 0.667 62 45.1% benign(0.312) tolerated(0.36) neutral(0.118) HMMPfam_7tm_2 GPR97 222487 genome.wustl.edu 37 16 57719669 57719669 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170776.4 +1 validated p.I457 0.999 88 0% 92 41.3% 0 - - - - HMMPfam_7tm_2 CCDC135 84229 genome.wustl.edu 37 16 57738937 57738937 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032269.5 +1 validated p.E283D 0.000 67 0% 59 30.5% 0 - benign(0) tolerated(0.46) neutral(0.012) NULL KIFC3 3801 genome.wustl.edu 37 16 57794675 57794675 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005550.3 -1 validated p.S732L 1.000 10 0% 11 45.5% 33 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIFC3 3801 genome.wustl.edu 37 16 57799532 57799532 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005550.3 -1 validated p.R451C 1.000 30 0% 25 60% 28 46.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases CNGB1 1258 genome.wustl.edu 37 16 57946870 57946870 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001297.4 -1 reviewed p.R778H 1.000 83 0% 59 55.9% 0 - benign(0.295) tolerated(0.16) neutral(0.151) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels C16orf57 79650 genome.wustl.edu 37 16 58054085 58054085 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024598.2 +1 validated p.R245H 0.987 58 0% 65 56.9% 73 34.2% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_HVSL CSNK2A2 1459 genome.wustl.edu 37 16 58201138 58201138 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001896.2 -1 validated p.F233L 1.000 177 0% 93 47.3% 66 40.9% possibly_damaging(0.922) tolerated(0.09) deleterious(0.668) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GINS3 64785 genome.wustl.edu 37 16 58438569 58438569 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001126129.1 +1 reviewed p.Q235R 1.000 110 0% 61 45.9% 12 58.3% possibly_damaging(0.643) tolerated(0.21) neutral(0.270) NULL NDRG4 65009 genome.wustl.edu 37 16 58540317 58540317 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130487.1 +1 reviewed p.G185 0.996 27 0% 26 34.6% 5 20% - - - HMMPfam_Ndr,superfamily_SSF53474 NDRG4 65009 genome.wustl.edu 37 16 58543254 58543254 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130487.1 +1 reviewed p.Y340C 1.000 26 0% 32 46.9% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ndr CNOT1 23019 genome.wustl.edu 37 16 58557403 58557403 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016284.3 -1 validated p.R2263H 1.000 243 0% 117 47% 178 43.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Not1 CNOT1 23019 genome.wustl.edu 37 16 58585702 58585702 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016284.3 -1 validated p.S998P 1.000 119 0% 53 41.5% 40 52.5% probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL CDH8 1006 genome.wustl.edu 37 16 61687916 61687916 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001796.2 -1 reviewed p.R666C 1.000 47 0% 53 43.4% 0 - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_Cadherin_C CDH8 1006 genome.wustl.edu 37 16 61823268 61823268 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001796.2 -1 reviewed p.I466L 0.996 329 0% 128 22.7% 0 - benign(0.013) deleterious(0.03) neutral(0.365) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH11 1009 genome.wustl.edu 37 16 64981697 64981697 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001797.2 -1 reviewed p.A734T 1.000 97 0% 43 44.2% 20 65% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_Cadherin_C CDH11 1009 genome.wustl.edu 37 16 64984859 64984859 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001797.2 -1 reviewed p.L569I 1.000 14 0% 12 66.7% 27 48.1% possibly_damaging(0.853) tolerated(0.1) deleterious(0.615) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ENSG00000250685 0 genome.wustl.edu 37 16 65390367 65390367 + RNA SNP T T A rs144761927 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000505989 -1 known NULL 0.005 213 0% 111 45.9% 0 - - - - - DYNC1LI2 1783 genome.wustl.edu 37 16 66759788 66759788 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006141.2 -1 validated p.T441A 1.000 85 0% 68 20.6% 28 17.8% benign(0.378) tolerated(0.06) neutral(0.443) HMMPfam_DLIC CCDC79 283847 genome.wustl.edu 37 16 66812899 66812899 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136505.1 -1 provisional p.F240 0.941 99 1% 56 42.9% 0 - - - - superfamily_ARM repeat NAE1 8883 genome.wustl.edu 37 16 66839818 66839818 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003905.3 -1 reviewed p.E481G 1.000 195 0% 99 13.1% 91 7.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Activating enzymes of the ubiquitin-like proteins CA7 766 genome.wustl.edu 37 16 66880978 66880978 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005182.2 +1 reviewed p.R29H 1.000 49 0% 41 22% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd CES2 8824 genome.wustl.edu 37 16 66969574 66969574 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003869.4 +1 reviewed p.A76 0.000 10 0% 13 30.8% 19 57.8% - - - HMMPfam_COesterase CES3 23491 genome.wustl.edu 37 16 66997089 66997089 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024922.4 +1 validated p.E30D 0.000 11 0% 17 35.3% 8 25% benign(0.323) tolerated(0.62) neutral(0.105) HMMPfam_COesterase CES3 23491 genome.wustl.edu 37 16 67000646 67000646 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024922.4 +1 validated p.L314I 0.001 95 0% 72 12.5% 12 50% benign(0.072) tolerated(0.39) neutral(0.021) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases C16orf70 80262 genome.wustl.edu 37 16 67165200 67165200 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025187.3 +1 provisional p.V81 0.974 332 0% 128 49.2% 5 60% - - - HMMPfam_UPF0183 FBXL8 55336 genome.wustl.edu 37 16 67196917 67196917 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018378.2 +1 reviewed p.R107C 0.969 4 0.000 12 0.667 5 60% benign(0.003) tolerated(0.09) neutral(0.296) superfamily_SSF52047 E2F4 1874 genome.wustl.edu 37 16 67226934 67226934 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001950.3 +1 reviewed p.T90A 1.000 21 0% 12 33.3% 65 50.7% possibly_damaging(0.804) tolerated(0.13) deleterious(0.555) NULL FHOD1 29109 genome.wustl.edu 37 16 67263546 67263546 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013241.2 -1 reviewed p.E1163G 1.000 55 0% 46 52.2% 29 27.5% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL FHOD1 29109 genome.wustl.edu 37 16 67265194 67265194 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013241.2 -1 reviewed p.R855H 1.000 32 0% 23 39.1% 13 61.5% benign(0.134) tolerated(1) neutral(0.011) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd SLC9A5 6553 genome.wustl.edu 37 16 67298274 67298274 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004594.2 +1 validated p.R621H 1.000 25 0% 16 43.8% 3 66.6% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL LRRC36 55282 genome.wustl.edu 37 16 67405132 67405132 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018296.5 +1 validated p.A494D 0.912 103 0% 42 40.5% 0 - - - - NULL ATP6V0D1 9114 genome.wustl.edu 37 16 67478481 67478481 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004691.4 -1 reviewed p.A144D 1.000 27 0% 20 40% 121 48.7% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_vATP-synt_AC39,superfamily_V-type ATP synthase subunit C FAM65A 79567 genome.wustl.edu 37 16 67579662 67579662 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024519.2 +1 validated p.R1096W 0.998 24 0% 35 45.7% 89 46% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM-type_fold RANBP10 57610 genome.wustl.edu 37 16 67778252 67778252 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020850.1 -1 provisional p.I169 0.981 40 0% 44 52.3% 8 37.5% - - - HMMPfam_SPRY,HMMSmart_SPRY TSNAXIP1 55815 genome.wustl.edu 37 16 67855087 67855087 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000415766 +1 known p.A78V 0.997 22 0% 16 25% 2 100% benign(0.045) - - NULL TSNAXIP1 55815 genome.wustl.edu 37 16 67859918 67859918 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018430.2 +1 validated p.F307L 0.000 23 0% 19 36.8% 4 50% benign(0) tolerated(0.63) neutral(0.004) NULL EDC4 23644 genome.wustl.edu 37 16 67913644 67913644 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014329.3 +1 validated p.D596 0.987 25 0% 23 47.8% 46 30.4% - - - NULL EDC4 23644 genome.wustl.edu 37 16 67914116 67914116 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014329.3 +1 validated p.G698 0.062 15 0% 12 66.7% 27 18.5% - - - NULL EDC4 23644 genome.wustl.edu 37 16 67916231 67916231 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014329.3 +1 validated e24+1 1.000 96 0% 89 50.6% 18 100% - - - - PSKH1 5681 genome.wustl.edu 37 16 67943302 67943302 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006742.2 +1 validated p.R217Q 1.000 33 0% 28 35.7% 43 37.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase LCAT 3931 genome.wustl.edu 37 16 67974291 67974291 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000229.1 -1 reviewed p.R280H 0.000 55 0% 48 52.1% 28 46.4% benign(0) tolerated(0.12) neutral(0.261) HMMPfam_LACT,superfamily_alpha/beta-Hydrolases SLC12A4 6560 genome.wustl.edu 37 16 67985923 67985923 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005072.4 -1 validated p.N312S 1.000 16 0% 28 64.3% 13 23% possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) HMMPfam_AA_permease DPEP3 64180 genome.wustl.edu 37 16 68012206 68012206 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022357.3 -1 reviewed p.R242H 1.000 34 0% 27 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_RENAL_DIPEPTIDASE_1,HMMPfam_Peptidase_M19,superfamily_Metallo-dependent hydrolases NFATC3 4775 genome.wustl.edu 37 16 68156610 68156610 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173165.1 +1 reviewed p.R275M 1.000 64 0% 49 44.9% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NFATC3 4775 genome.wustl.edu 37 16 68225305 68225305 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173165.1 +1 reviewed p.Q911H 0.007 102 0% 78 34.6% 30 36.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SLC7A6 9057 genome.wustl.edu 37 16 68309060 68309060 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001076785.1 +1 validated p.A144V 1.000 70 0% 62 51.6% 9 55.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_AA_permease PRMT7 54496 genome.wustl.edu 37 16 68363010 68363010 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019023.2 +1 validated p.E108D 1.000 307 0% 159 45.9% 20 45% possibly_damaging(0.719) tolerated(0.4) neutral(0.277) superfamily_S-adenosyl-L-methionine-dependent methyltransferases CDH3 1001 genome.wustl.edu 37 16 68716211 68716211 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001793.4 +1 reviewed p.A335T 0.037 11 0% 17 70.6% 78 51.2% benign(0.055) tolerated(0.23) neutral(0.045) HMMPfam_Cadherin,superfamily_Cadherin-like CDH3 1001 genome.wustl.edu 37 16 68716319 68716319 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001793.4 +1 reviewed p.G371S 1.000 16 0% 26 19.2% 87 14.9% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH3 1001 genome.wustl.edu 37 16 68732063 68732063 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000429102 +1 known p.R783H 0.000 7 0.000 14 0.500 5 20% unknown(0) - - NULL CDH1 999 genome.wustl.edu 37 16 68857439 68857439 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004360.3 +1 reviewed p.A692T 0.004 69 0% 56 12.5% 113 6.1% benign(0.114) tolerated(0.19) neutral(0.059) superfamily_Cadherin-like CDH1 999 genome.wustl.edu 37 16 68862192 68862192 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004360.3 +1 reviewed p.G760 0.865 140 0% 88 34.1% 139 56.8% - - - HMMPfam_Cadherin_C TMCO7 79613 genome.wustl.edu 37 16 68901117 68901117 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024562.1 +1 validated p.A330S 1.000 142 0% 76 19.7% 8 12.5% possibly_damaging(0.903) tolerated(0.86) neutral(0.358) NULL TMCO7 79613 genome.wustl.edu 37 16 68961814 68961814 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024562.1 +1 validated p.S824I 0.001 97 0% 58 31% 4 25% benign(0.014) tolerated(0.29) neutral(0.030) superfamily_ARM repeat,HMMPfam_DUF2435 HAS3 3038 genome.wustl.edu 37 16 69143354 69143354 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005329.2 +1 reviewed p.L19P 1.000 13 0% 16 62.5% 1 100% benign(0.344) deleterious(0) deleterious(0.553) NULL HAS3 3038 genome.wustl.edu 37 16 69143446 69143446 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005329.2 +1 reviewed p.A50T 1.000 16 0% 14 50% 10 60% benign(0.193) deleterious(0.02) neutral(0.401) NULL CIRH1A 84916 genome.wustl.edu 37 16 69184774 69184774 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032830.2 +1 reviewed p.Y323 0.253 96 0% 50 38% 51 60.7% - - - superfamily_WD40 repeat-like NIP7 51388 genome.wustl.edu 37 16 69375221 69375221 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016101.3 +1 validated p.L141V 0.787 120 0% 66 36.4% 21 57.1% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMSmart_SM00359,superfamily_PUA domain-like NQO1 1728 genome.wustl.edu 37 16 69744945 69744945 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000903.2 -1 reviewed p.G253 1.000 375 0% 188 41% 51 43.1% - - - superfamily_Flavoproteins NQO1 1728 genome.wustl.edu 37 16 69752319 69752319 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000903.2 -1 reviewed p.L42 0.967 72 0% 40 45% 76 40.7% - - - HMMPfam_Flavodoxin_2,superfamily_Flavoproteins PDXDC2P 283970 genome.wustl.edu 37 16 70011824 70011824 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_003610.1 -1 provisional NULL 0.001 72 0% 44 18.2% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) - PDXDC2P 283970 genome.wustl.edu 37 16 70057361 70057361 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000325845 -1 known p.S294N 1.000 137 0% 91 35.2% 45 2.2% - - - superfamily_PLP-dependent transferases PDPR 55066 genome.wustl.edu 37 16 70166118 70166118 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017990.3 +1 validated p.G304 0.995 125 0% 94 16% 4 0% - - - HMMPfam_DAO,superfamily_SSF51905,superfamily_SSF54373 AARS 16 genome.wustl.edu 37 16 70289731 70289731 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001605.2 -1 reviewed p.R729Q 1.000 51 0% 39 23.1% 191 51.3% benign(0) tolerated(0.91) - HMMPfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit DDX19A 55308 genome.wustl.edu 37 16 70400676 70400676 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018332.3 +1 provisional p.V311G 1.000 99 0% 70 41.4% 33 42.4% possibly_damaging(0.914) deleterious(0) deleterious(0.810) superfamily_P-loop containing nucleoside triphosphate hydrolases FUK 197258 genome.wustl.edu 37 16 70500904 70500904 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000428974 +1 known p.Q160 0.000 21 0% 23 47.8% 1 0% - - - NULL FUK 197258 genome.wustl.edu 37 16 70508202 70508202 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145059.2 +1 reviewed p.V650M 0.998 12 0% 21 19% 16 18.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL COG4 25839 genome.wustl.edu 37 16 70516712 70516712 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015386.2 -1 validated p.E614K 1.000 69 0% 63 47.6% 53 49% benign(0.062) tolerated(0.23) neutral(0.045) NULL SF3B3 23450 genome.wustl.edu 37 16 70562880 70562880 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012426.4 +1 reviewed p.F59V 1.000 159 0% 87 34.5% 56 55.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HYDIN 54768 genome.wustl.edu 37 16 70954612 70954612 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032821.2 -1 validated p.H2555R 0.941 55 0% 46 17.4% 0 - benign(0.016) tolerated(0.07) neutral(0.320) NULL HYDIN 54768 genome.wustl.edu 37 16 71065710 71065710 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032821.2 -1 validated p.K880N 0.999 174 0% 89 34.8% 0 - benign(0.218) deleterious(0.03) neutral(0.386) NULL HYDIN 54768 genome.wustl.edu 37 16 71127835 71127835 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032821.2 -1 validated p.R444Q 1.000 119 0% 68 45.6% 3 0% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL FTSJD1 55783 genome.wustl.edu 37 16 71319160 71319160 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099642.1 -1 validated p.F222V 0.993 129 0% 84 11.9% 7 14.2% probably_damaging(0.977) tolerated(0.53) neutral(0.426) HMMPfam_FtsJ,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ZNF19 7567 genome.wustl.edu 37 16 71510014 71510014 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006961.3 -1 reviewed p.N146H 0.010 330 0% 181 43.6% 1 0% benign(0.282) tolerated(0.15) neutral(0.328) NULL TAT 6898 genome.wustl.edu 37 16 71609889 71609889 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000353.2 -1 reviewed p.E92D 1.000 145 0% 92 43.5% 0 - benign(0.002) tolerated(0.55) neutral(0.007) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases PHLPP2 23035 genome.wustl.edu 37 16 71683199 71683199 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015020.2 -1 validated p.S1189Y 0.035 41 0% 37 48.6% 4 25% possibly_damaging(0.502) tolerated(0.06) deleterious(0.490) NULL ZNF821 55565 genome.wustl.edu 37 16 71894169 71894169 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017530.1 -1 provisional p.R289W 1.000 9 0.000 9 0.444 15 73.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100130263 100130263 genome.wustl.edu 37 16 72038292 72038292 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001719547.1 -1 model p.N86 1.000 117 0% 77 40.3% 0 - - - - HMMPfam_DUF814 DHODH 1723 genome.wustl.edu 37 16 72048450 72048450 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001361.3 +1 reviewed p.D105Y 1.000 165 0% 118 43.2% 7 42.8% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_DHO_dh,superfamily_SSF51395 DHODH 1723 genome.wustl.edu 37 16 72055123 72055123 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001361.3 +1 reviewed p.D206 1.000 10 0% 16 43.8% 9 33.3% - - - HMMPfam_DHO_dh,superfamily_SSF51395 DHODH 1723 genome.wustl.edu 37 16 72058060 72058060 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001361.3 +1 reviewed p.G384R 0.019 153 0% 123 38.2% 13 46.1% benign(0) tolerated(0.11) neutral(0.272) superfamily_SSF51395 HPR 3250 genome.wustl.edu 37 16 72110692 72110692 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020995.3 +1 validated p.T253 0.002 40 0% 37 54.1% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases HPR 3250 genome.wustl.edu 37 16 72110870 72110870 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020995.3 +1 validated p.A313T 0.988 143 0% 80 52.5% 0 - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases PMFBP1 83449 genome.wustl.edu 37 16 72158827 72158827 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031293.2 -1 validated p.A810T 0.038 33 0% 30 46.7% 1 0% possibly_damaging(0.646) tolerated(0.56) neutral(0.233) NULL PMFBP1 83449 genome.wustl.edu 37 16 72174340 72174340 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031293.2 -1 validated p.R260* 0.999 237 0% 114 47.4% 0 - - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72822728 72822728 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006885.3 -1 reviewed p.P3149 1.000 14 0% 27 40.7% 27 66.6% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72829144 72829144 + Silent SNP C C T rs182754861 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006885.3 -1 reviewed p.S2479 0.000 70 0% 78 42.3% 16 43.7% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72829797 72829797 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006885.3 -1 reviewed p.D2262N 1.000 157 0% 104 56.7% 8 62.5% unknown(0) - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like NPIPL2 440348 genome.wustl.edu 37 16 74419270 74419270 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344099.1 +1 model p.R94* 0.003 760 0% 439 29.4% 1 0% - - - HMMPfam_NPIP NPIPL2 440348 genome.wustl.edu 37 16 74423967 74423967 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344099.1 +1 model p.L210 0.003 322 0% 169 37.3% 0 - - - - HMMPfam_NPIP CLEC18B 497190 genome.wustl.edu 37 16 74444503 74444503 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001011880.2 -1 validated p.S381F 0.950 84 0% 116 30.2% 2 0% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like GLG1 2734 genome.wustl.edu 37 16 74487011 74487011 + RNA SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_027264.1 -1 validated NULL 1.000 88 0% 77 49.4% 203 44.3% - - - - ADAT1 23536 genome.wustl.edu 37 16 75634206 75634206 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012091.2 -1 reviewed p.A473T 0.513 94 0% 48 39.6% 10 50% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_A_deamin,HMMSmart_SM00552 ADAT1 23536 genome.wustl.edu 37 16 75642165 75642165 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012091.2 -1 reviewed p.P416S 0.998 187 0% 83 45.8% 4 25% benign(0.002) tolerated(0.12) neutral(0.261) HMMPfam_A_deamin,HMMSmart_SM00552 CNTNAP4 85445 genome.wustl.edu 37 16 76482082 76482082 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033401.3 +1 reviewed p.E237D 0.188 265 0% 84 40.5% 0 - - - - NULL CNTNAP4 85445 genome.wustl.edu 37 16 76483724 76483724 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000476707 +1 known p.A350V 1.000 181 0% 67 49.3% 0 - benign(0.082) tolerated(0.1) neutral(0.292) NULL CNTNAP4 85445 genome.wustl.edu 37 16 76528937 76528937 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138994.3 +1 validated p.C664* 1.000 299 0% 134 47.8% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases CNTNAP4 85445 genome.wustl.edu 37 16 76556147 76556147 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033401.3 +1 reviewed p.S916F 0.962 43 0% 21 42.9% 0 - - - - NULL MON1B 22879 genome.wustl.edu 37 16 77227453 77227453 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014940.2 +1 validated p.P85L 0.058 39 0% 17 35.3% 22 45.4% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL ADAMTS18 170692 genome.wustl.edu 37 16 77398190 77398190 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199355.2 -1 reviewed p.S289 0.004 184 0% 84 36.9% 0 - - - - "superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS18 170692 genome.wustl.edu 37 16 77401474 77401474 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199355.2 -1 reviewed p.Y214 0.001 78 0% 24 62.5% 0 - - - - NULL NUDT7 283927 genome.wustl.edu 37 16 77775538 77775538 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105663.1 +1 reviewed p.P136 0.756 54 0% 27 37% 9 77.7% - - - HMMPfam_NUDIX,superfamily_NUDIX_hydrolase VAT1L 57687 genome.wustl.edu 37 16 77859146 77859146 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020927.1 +1 provisional p.G123* 1.000 48 0% 31 29% 1 0% - - - superfamily_GroES_like,HMMPfam_ADH_N VAT1L 57687 genome.wustl.edu 37 16 77859227 77859227 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020927.1 +1 provisional p.P150T 1.000 69 0% 49 40.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GroES_like VAT1L 57687 genome.wustl.edu 37 16 77910270 77910270 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020927.1 +1 provisional p.I242 1.000 252 0% 136 50% 0 - - - - HMMPfam_ADH_zinc_N,superfamily_NAD(P)-bd VAT1L 57687 genome.wustl.edu 37 16 78011572 78011572 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020927.1 +1 provisional p.R414W 1.000 151 0% 98 48% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DYNLRB2 83657 genome.wustl.edu 37 16 80583473 80583473 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130897.1 +1 provisional p.R58C 1.000 266 0% 127 42.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Robl_LC7 ATMIN 23300 genome.wustl.edu 37 16 81077129 81077129 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015251.2 +1 validated p.H342Q 0.928 43 0% 24 33.3% 14 35.7% possibly_damaging(0.58) tolerated(0.46) neutral(0.211) NULL ATMIN 23300 genome.wustl.edu 37 16 81077136 81077136 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015251.2 +1 validated p.P345T 1.000 41 0% 23 65.2% 14 64.2% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL GCSH 2653 genome.wustl.edu 37 16 81121253 81121253 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004483.4 -1 reviewed p.V82A 1.000 331 0% 135 39.3% 38 39.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_GCV_H,superfamily_Single hybrid motif PKD1L2 114780 genome.wustl.edu 37 16 81157262 81157262 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052892.3 -1 reviewed p.A2159 0.068 31 0% 31 38.7% 0 - - - - NULL PKD1L2 114780 genome.wustl.edu 37 16 81185371 81185371 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000360678 -1 known e10+1 1.000 54 0% 26 50% 0 - - - - - PKD1L2 114780 genome.wustl.edu 37 16 81185475 81185475 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052892.3 -1 reviewed p.K1484E 1.000 74 0% 44 31.8% 1 0% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) PKD1L2 114780 genome.wustl.edu 37 16 81249946 81249946 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001076780.1 -1 reviewed p.A123T 0.000 15 0% 12 58.3% 0 - benign(0.032) tolerated(0.08) neutral(0.301) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CMIP 80790 genome.wustl.edu 37 16 81685821 81685821 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198390.2 +1 validated p.K164T 1.000 81 0% 56 46.4% 28 39.2% possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) NULL PLCG2 5336 genome.wustl.edu 37 16 81979789 81979789 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002661.2 +1 validated p.S1164F 1.000 138 0% 47 34% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_C2,superfamily_C2_CaLB CDH13 1012 genome.wustl.edu 37 16 83520203 83520203 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001257.3 +1 reviewed p.I301 1.000 40 0% 22 54.5% 1 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin MLYCD 23417 genome.wustl.edu 37 16 83948890 83948890 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012213.2 +1 reviewed p.N426 0.998 10 0% 14 71.4% 9 33.3% - - - HMMPfam_MCD OSGIN1 29948 genome.wustl.edu 37 16 83992869 83992869 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013370.3 +1 validated p.N107 0.989 75 0% 60 38.3% 8 25% - - - superfamily_FAD/NAD(P)-binding domain OSGIN1 29948 genome.wustl.edu 37 16 83994667 83994667 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013370.3 +1 validated p.K243E 0.126 21 0% 11 54.5% 13 46.1% benign(0.001) tolerated(0.94) - superfamily_FAD/NAD(P)-binding domain OSGIN1 29948 genome.wustl.edu 37 16 83999072 83999072 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013370.3 +1 validated p.A381 0.727 8 0.000 10 0.400 6 66.6% - - - superfamily_FAD/NAD(P)-binding domain MBTPS1 8720 genome.wustl.edu 37 16 84089719 84089719 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003791.2 -1 reviewed p.K951N 1.000 98 0% 75 13.3% 94 23.4% benign(0.112) deleterious(0.02) neutral(0.392) NULL TAF1C 9013 genome.wustl.edu 37 16 84215597 84215597 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005679.2 -1 reviewed p.Q263H 1.000 21 0% 21 38.1% 30 50% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL ADAD2 161931 genome.wustl.edu 37 16 84228703 84228703 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139174.3 +1 validated p.C284 0.298 8 0.000 14 0.429 0 - - - - NULL KCNG4 93107 genome.wustl.edu 37 16 84256451 84256451 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172347.1 -1 reviewed p.A311V 0.002 35 0% 31 35.5% 0 - benign(0) tolerated(0.5) neutral(0.010) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KCNG4 93107 genome.wustl.edu 37 16 84256576 84256576 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172347.1 -1 reviewed p.C269 0.993 33 0% 35 40% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ATP2C2 9914 genome.wustl.edu 37 16 84449151 84449151 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014861.2 +1 validated p.S193F 0.791 55 0% 56 26.8% 15 53.3% benign(0.067) tolerated(0.64) neutral(0.007) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M ENSG00000248612 0 genome.wustl.edu 37 16 84495475 84495475 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508094 -1 known NULL 0.000 43 0% 68 41.2% 2 100% - - - - ZDHHC7 55625 genome.wustl.edu 37 16 85012849 85012849 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145548.1 -1 validated p.P198 0.235 356 0% 180 44.4% 27 51.8% - - - HMMPfam_zf-DHHC KIAA0182 23199 genome.wustl.edu 37 16 85691111 85691111 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014615.2 +1 validated p.Q514R 1.000 12 0% 11 45.5% 3 66.6% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL KIAA0182 23199 genome.wustl.edu 37 16 85696594 85696594 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014615.2 +1 validated p.Y756* 1.000 48 0% 38 50% 17 5.8% - - - NULL GINS2 51659 genome.wustl.edu 37 16 85721125 85721125 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016095.2 -1 validated p.A49V 0.968 84 0% 64 17.2% 19 36.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Psf2 IRF8 3394 genome.wustl.edu 37 16 85936688 85936688 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002163.2 +1 reviewed p.Y23H 1.000 85 0% 64 32.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IRF,HMMSmart_IRF,superfamily_SSF46785 MTHFSD 64779 genome.wustl.edu 37 16 86580177 86580177 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022764.2 -1 validated p.V143I 1.000 83 0% 56 50% 7 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_5-FTHF_cyc-lig,superfamily_SSF100950 FOXL1 2300 genome.wustl.edu 37 16 86612642 86612642 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005250.2 +1 validated p.D105N 1.000 20 0% 33 18.2% 0 - probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 FBXO31 79791 genome.wustl.edu 37 16 87364778 87364778 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_024568.1 -1 validated NULL 0.000 12 0% 14 64.3% 15 40% - - - - ZCCHC14 23174 genome.wustl.edu 37 16 87448933 87448933 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015144.2 -1 validated p.S338F 1.000 324 0% 206 44.7% 4 50% unknown(0) deleterious(0) - HMMPfam_SAM_1,superfamily_SAM/Pointed domain KLHDC4 54758 genome.wustl.edu 37 16 87799488 87799488 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017566.3 -1 validated p.K3N 1.000 24 0% 44 40.9% 3 33.3% benign(0.003) - - NULL SLC7A5 8140 genome.wustl.edu 37 16 87868147 87868147 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003486.5 -1 validated p.I447 1.000 15 0% 15 60% 73 43.8% - - - HMMPfam_AA_permease CA5A 763 genome.wustl.edu 37 16 87938412 87938412 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001739.1 -1 reviewed p.G147S 0.214 61 0% 40 42.5% 0 - benign(0) tolerated(0.1) neutral(0.286) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,PatternScan_ALPHA_CA_1 ZC3H18 124245 genome.wustl.edu 37 16 88665106 88665106 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144604.3 +1 validated p.R306W 1.000 107 0% 65 38.5% 15 40% unknown(0) deleterious(0) - NULL PIEZO1 9780 genome.wustl.edu 37 16 88787742 88787742 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000451779 -1 known p.P1371S 0.001 13 0% 13 61.5% 6 0% benign(0.025) tolerated(0.23) neutral(0.043) NULL PABPN1L 390748 genome.wustl.edu 37 16 88931486 88931486 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080487.1 -1 provisional p.C170 0.227 6 0.000 13 0.385 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CBFA2T3 863 genome.wustl.edu 37 16 88952428 88952428 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005187.4 -1 reviewed p.I278 0.000 22 0% 13 38.5% 0 - - - - NULL ZNF778 197320 genome.wustl.edu 37 16 89293933 89293933 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182531.2 +1 validated p.R385* 0.654 176 0% 112 40.2% 7 14.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF778 197320 genome.wustl.edu 37 16 89294522 89294522 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182531.2 +1 validated p.R581Q 0.363 99 0% 68 41.2% 8 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANKRD11 29123 genome.wustl.edu 37 16 89345548 89345548 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013275.4 -1 validated p.E2468K 1.000 22 0% 16 37.5% 68 39.7% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL DPEP1 1800 genome.wustl.edu 37 16 89704109 89704109 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128141.1 +1 validated p.V308A 0.998 77 0% 51 45.1% 1 0% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Peptidase_M19,superfamily_SSF51556 ZNF276 92822 genome.wustl.edu 37 16 89804493 89804493 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113525.1 +1 validated p.R562W 1.000 13 0% 21 23.8% 39 20.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FANCA 2175 genome.wustl.edu 37 16 89842203 89842203 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000135.2 -1 reviewed p.S616Y 0.026 75 0% 63 36.5% 7 14.2% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL DEF8 54849 genome.wustl.edu 37 16 90030973 90030973 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207514.1 +1 validated p.V476I 0.998 12 0.000 7 0.571 38 18.4% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMSmart_SM00109,superfamily_Cysteine-rich domain DBNDD1 79007 genome.wustl.edu 37 16 90072799 90072799 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024043.2 -1 validated p.R161W 1.000 20 0% 24 37.5% 35 65.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dysbindin GAS8 2622 genome.wustl.edu 37 16 90099228 90099228 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001481.2 +1 reviewed p.H131Y 1.000 34 0% 39 25.6% 23 34.7% benign(0.01) tolerated(0.55) neutral(0.007) NULL RNMTL1 55178 genome.wustl.edu 37 17 691223 691223 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018146.2 +1 provisional p.D193G 1.000 178 0% 120 35% 16 68.7% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_SpoU_sub_bind,superfamily_SSF55315,superfamily_SSF75217 RNMTL1 55178 genome.wustl.edu 37 17 694838 694838 + Silent SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018146.2 +1 provisional p.P264 0.703 74 0% 71 38% 16 50% - - - HMMPfam_SpoU_methylase,superfamily_SSF75217 ABR 29 genome.wustl.edu 37 17 995089 995089 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021962.2 -1 reviewed p.P116L 1.000 64 0% 63 38.1% 20 60% possibly_damaging(0.8) tolerated(0.32) neutral(0.325) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) INPP5K 51763 genome.wustl.edu 37 17 1410318 1410318 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016532.3 -1 reviewed p.P244 0.819 105 0% 97 44.3% 32 50% - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like PITPNA 5306 genome.wustl.edu 37 17 1437516 1437516 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006224.3 -1 reviewed e10-1 1.000 84 0% 48 41.7% 1 100% - - - - PITPNA 5306 genome.wustl.edu 37 17 1438748 1438748 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006224.3 -1 reviewed p.G174D 1.000 89 0% 88 40.9% 25 12% benign(0.092) tolerated(0.24) neutral(0.044) HMMPfam_IP_trans,superfamily_SSF55961 RILP 83547 genome.wustl.edu 37 17 1550269 1550269 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031430.2 -1 validated p.G320D 0.212 59 0% 66 51.5% 21 66.6% possibly_damaging(0.943) tolerated(0.09) deleterious(0.684) NULL PRPF8 10594 genome.wustl.edu 37 17 1561586 1561586 + Silent SNP G G A rs192097342 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006445.3 -1 reviewed p.I1822 1.000 75 0% 87 46% 156 45.5% - - - NULL PRPF8 10594 genome.wustl.edu 37 17 1579845 1579845 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006445.3 -1 reviewed p.R781Q 1.000 43 0% 45 51.1% 62 51.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PROCN PRPF8 10594 genome.wustl.edu 37 17 1585431 1585431 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006445.3 -1 reviewed p.S142 0.997 198 0% 166 50.6% 56 51.7% - - - HMMPfam_PRO8NT WDR81 124997 genome.wustl.edu 37 17 1628985 1628985 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000409644 +1 known p.D244 0.995 15 0% 21 38.1% 7 42.8% - - - NULL SERPINF2 5345 genome.wustl.edu 37 17 1648295 1648295 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000934.3 +1 reviewed p.A2 0.824 48 0% 30 16.7% 2 0% - - - superfamily_Prot_inh_serpin SERPINF1 5176 genome.wustl.edu 37 17 1675359 1675359 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002615.4 +1 validated p.A211 0.932 74 0% 67 11.9% 32 3.1% - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SMYD4 114826 genome.wustl.edu 37 17 1704246 1704246 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052928.2 -1 validated p.R148C 0.989 67 0% 42 40.5% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like RPA1 6117 genome.wustl.edu 37 17 1747885 1747885 + Silent SNP G G A rs189644474 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002945.3 +1 validated p.A59 0.994 230 0.4% 149 36.9% 65 46.1% - - - HMMPfam_Rep-A_N,superfamily_Nucleic acid-binding proteins DPH1 1801 genome.wustl.edu 37 17 1939913 1939913 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001383.3 +1 validated p.R169H 1.000 54 0% 68 52.9% 34 52.9% benign(0.308) deleterious(0.05) neutral(0.442) HMMPfam_Diphthamide_syn SMG6 23293 genome.wustl.edu 37 17 2203334 2203334 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017575.4 -1 validated p.P238L 0.004 81 0% 66 15.2% 8 25% benign(0.004) tolerated(0.93) - NULL SMG6 23293 genome.wustl.edu 37 17 2203575 2203575 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017575.4 -1 validated p.E158K 1.000 191 0% 126 48.4% 8 37.5% benign(0.025) deleterious(0) neutral(0.446) NULL SMG6 23293 genome.wustl.edu 37 17 2203637 2203637 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017575.4 -1 validated p.R137I 1.000 154 0% 110 43.6% 6 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SMG6 23293 genome.wustl.edu 37 17 2203927 2203927 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017575.4 -1 validated p.P40 0.977 63 0% 51 39.2% 3 33.3% - - - NULL SGSM2 9905 genome.wustl.edu 37 17 2276317 2276317 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014853.2 +1 validated p.V620A 1.000 30 0% 37 24.3% 42 45.2% probably_damaging(0.99) tolerated(0.12) deleterious(0.702) HMMSmart_TBC,superfamily_RabGAP_TBC KIAA0664 23277 genome.wustl.edu 37 17 2603705 2603705 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015229.3 -1 validated p.R375 1.000 5 0.000 18 0.444 77 36.3% - - - NULL RAP1GAP2 23108 genome.wustl.edu 37 17 2866754 2866754 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015085.4 +1 reviewed p.E93K 0.998 68 0% 53 41.5% 16 31.2% probably_damaging(0.953) deleterious(0) deleterious(0.841) NULL OR1G1 8390 genome.wustl.edu 37 17 3030850 3030850 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000381953 -1 known p.R37I 0.941 61 0% 44 22.7% 0 - - - - NULL SPATA22 84690 genome.wustl.edu 37 17 3343569 3343569 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032598.4 -1 validated p.K322E 1.000 87 0% 44 43.2% 0 - benign(0.243) tolerated(0.29) neutral(0.054) NULL ASPA 443 genome.wustl.edu 37 17 3386854 3386854 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000049.2 +1 reviewed p.A165V 1.000 268 0% 138 43.5% 0 - benign(0.004) tolerated(0.51) neutral(0.009) HMMPfam_AstE_AspA TRPV3 162514 genome.wustl.edu 37 17 3458052 3458052 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145068.2 -1 reviewed p.P31 0.000 20 0% 23 47.8% 1 100% - - - NULL TAX1BP3 30851 genome.wustl.edu 37 17 3568031 3568031 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014604.2 -1 validated p.G34E 1.000 104 0% 78 39.7% 76 27.6% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like GSG2 83903 genome.wustl.edu 37 17 3628176 3628176 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031965.2 +1 validated p.A316V 0.000 22 0% 27 59.3% 10 60% possibly_damaging(0.668) deleterious(0.01) deleterious(0.642) NULL CAMKK1 84254 genome.wustl.edu 37 17 3786350 3786350 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172207.2 -1 reviewed p.V212I 1.000 26 0% 30 50% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ATP2A3 489 genome.wustl.edu 37 17 3838545 3838545 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174953.1 -1 reviewed p.A851T 1.000 18 0% 14 28.6% 11 27.2% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M ZZEF1 23140 genome.wustl.edu 37 17 3917396 3917396 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015113.3 -1 validated p.R2801W 0.599 27 0% 27 33.3% 15 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZZEF1 23140 genome.wustl.edu 37 17 3937466 3937466 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015113.3 -1 validated p.L2143 0.970 49 0% 36 47.2% 18 27.7% - - - NULL ZZEF1 23140 genome.wustl.edu 37 17 3953144 3953144 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015113.3 -1 validated p.A1958V 0.980 59 0% 41 41.5% 7 42.8% benign(0.152) deleterious(0.02) neutral(0.397) NULL ANKFY1 51479 genome.wustl.edu 37 17 4100813 4100813 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016376.3 -1 validated p.L320V 0.231 63 0% 57 36.8% 18 44.4% benign(0) tolerated(0.43) neutral(0.013) HMMPfam_Ank,superfamily_ANK SPNS2 124976 genome.wustl.edu 37 17 4435951 4435951 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001124758.1 +1 provisional p.L303F 1.000 25 0% 32 31.2% 13 38.4% benign(0.011) tolerated(0.71) neutral(0.002) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter MYBBP1A 10514 genome.wustl.edu 37 17 4445946 4445946 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105538.1 -1 validated p.V995I 0.000 51 0% 56 37.5% 69 52.1% benign(0.01) tolerated(0.48) neutral(0.011) superfamily_ARM-type_fold ALOX15 246 genome.wustl.edu 37 17 4535197 4535197 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001140.3 -1 validated p.R599H 0.093 30 0% 19 47.4% 2 100% benign(0.006) tolerated(0.38) neutral(0.018) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase PELP1 27043 genome.wustl.edu 37 17 4574797 4574797 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014389.2 -1 validated p.A1110 0.991 104 0% 86 41.9% 84 40.4% - - - NULL ZMYND15 84225 genome.wustl.edu 37 17 4643965 4643965 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136046.1 +1 provisional p.R41Q 0.490 72 0% 64 48.4% 0 - benign(0.006) deleterious(0) neutral(0.445) NULL ZMYND15 84225 genome.wustl.edu 37 17 4647304 4647304 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136046.1 +1 provisional p.Y466S 0.994 21 0% 26 42.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL VMO1 284013 genome.wustl.edu 37 17 4688807 4688807 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182566.2 -1 validated p.Q153H 1.000 18 0% 26 57.7% 1 100% possibly_damaging(0.66) tolerated(0.09) deleterious(0.529) HMMPfam_VOMI,superfamily_VOMI MINK1 50488 genome.wustl.edu 37 17 4799602 4799602 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153827.4 +1 reviewed p.S1194T 1.000 47 0% 48 50% 70 35.7% benign(0.017) tolerated(0.07) neutral(0.320) HMMPfam_CNH,HMMSmart_SM00036 ENO3 2027 genome.wustl.edu 37 17 4858761 4858761 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001976.3 +1 reviewed p.G243S 1.000 37 0% 22 45.5% 6 50% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Enolase_C,superfamily_Enolase C-terminal domain-like CAMTA2 23125 genome.wustl.edu 37 17 4873250 4873250 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015099.3 -1 validated p.R1046W 1.000 19 0% 33 42.4% 21 57.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_P-loop containing nucleoside triphosphate hydrolases CAMTA2 23125 genome.wustl.edu 37 17 4877005 4877005 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015099.3 -1 validated p.I692 1.000 17 0% 18 33.3% 17 29.4% - - - NULL USP6 9098 genome.wustl.edu 37 17 5071302 5071302 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004505.2 +1 validated p.R1038C 1.000 139 0% 77 39% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UCH,superfamily_Cysteine proteinases ZNF594 84622 genome.wustl.edu 37 17 5084876 5084876 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000381752 -1 known p.R104I 0.859 172 0% 107 55.1% 2 0% possibly_damaging(0.806) deleterious(0.04) deleterious(0.652) HMMPfam_zf-C2H2,superfamily_SSF57667 DHX33 56919 genome.wustl.edu 37 17 5364376 5364376 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020162.2 -1 reviewed p.N244 0.944 41 0% 30 50% 8 62.5% - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MIS12 79003 genome.wustl.edu 37 17 5392282 5392282 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024039.1 +1 provisional p.E34* 1.000 69 0% 48 43.8% 23 34.7% - - - HMMPfam_Mis12 NLRP1 22861 genome.wustl.edu 37 17 5437235 5437235 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033004.3 -1 reviewed p.R1012W 0.000 85 0% 68 48.5% 1 0% probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL PITPNM3 83394 genome.wustl.edu 37 17 6367615 6367615 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031220.3 -1 reviewed p.E677 1.000 14 0.000 9 0.444 6 50% - - - NULL PITPNM3 83394 genome.wustl.edu 37 17 6371654 6371654 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031220.3 -1 reviewed p.R594H 0.991 26 0% 11 45.5% 10 40% possibly_damaging(0.487) tolerated(0.06) deleterious(0.485) HMMPfam_DDHD SLC13A5 284111 genome.wustl.edu 37 17 6589619 6589619 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177550.3 -1 validated p.F538L 0.080 149 0% 101 40.6% 0 - benign(0) tolerated(1) - HMMPfam_Na_sulph_symp SLC13A5 284111 genome.wustl.edu 37 17 6589624 6589624 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177550.3 -1 validated p.V537F 0.909 145 0% 94 45.7% 0 - possibly_damaging(0.772) deleterious(0) deleterious(0.732) HMMPfam_Na_sulph_symp FBXO39 162517 genome.wustl.edu 37 17 6684050 6684050 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153230.2 +1 validated p.F288S 1.000 23 0% 21 28.6% 0 - benign(0.109) tolerated(0.23) neutral(0.050) superfamily_SSF52047 FBXO39 162517 genome.wustl.edu 37 17 6684067 6684067 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153230.2 +1 validated p.K294E 1.000 23 0% 22 45.5% 0 - probably_damaging(0.979) tolerated(0.24) neutral(0.459) superfamily_SSF52047 TEKT1 83659 genome.wustl.edu 37 17 6722605 6722605 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053285.1 -1 reviewed p.T88I 0.095 225 0% 102 34.3% 1 0% benign(0.002) tolerated(0.34) neutral(0.023) HMMPfam_Tektin ALOX12 239 genome.wustl.edu 37 17 6902630 6902630 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000697.2 +1 validated p.V218I 0.998 56 0% 56 51.8% 1 0% possibly_damaging(0.863) deleterious(0.01) deleterious(0.739) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase ENSG00000215067 0 genome.wustl.edu 37 17 6913184 6913184 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000399540 -1 known p.A10T 0.077 63 0% 74 33.8% 15 53.3% unknown(0) - - NULL C17orf49 124944 genome.wustl.edu 37 17 6920297 6920297 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142798.1 +1 validated p.E160K 1.000 75 0% 60 38.3% 109 49.5% possibly_damaging(0.675) deleterious(0.05) deleterious(0.585) NULL CLEC10A 10462 genome.wustl.edu 37 17 6981358 6981358 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182906.2 -1 reviewed p.G48S 0.827 61 0% 60 56.7% 0 - benign(0.003) tolerated(0.95) - HMMPfam_Lectin_N ASGR2 433 genome.wustl.edu 37 17 7010446 7010446 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001181.3 -1 reviewed p.V179A 0.064 29 0% 40 37.5% 0 - benign(0.085) tolerated(0.52) neutral(0.015) HMMSmart_SM00034,superfamily_C-type lectin-like ASGR2 433 genome.wustl.edu 37 17 7017475 7017475 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001181.3 -1 reviewed p.R29C 0.000 104 1% 88 39.8% 0 - benign(0.011) tolerated(0.14) neutral(0.250) HMMPfam_Lectin_N DLG4 1742 genome.wustl.edu 37 17 7106611 7106611 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001365.3 -1 reviewed p.Q224 1.000 97 0% 87 20.7% 16 25% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ DLG4 1742 genome.wustl.edu 37 17 7107079 7107079 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001365.3 -1 reviewed p.G132 0.991 23 0% 32 46.9% 9 66.6% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ DLG4 1742 genome.wustl.edu 37 17 7107530 7107530 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001365.3 -1 reviewed p.E89D 1.000 205 0% 162 38.9% 10 20% benign(0) tolerated(0.47) neutral(0.011) HMMPfam_MAGUK_N_PEST ACADVL 37 genome.wustl.edu 37 17 7127320 7127320 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000018.2 +1 reviewed p.R456C 1.000 125 0.8% 97 44.3% 400 48% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like DVL2 1856 genome.wustl.edu 37 17 7137401 7137401 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004422.2 -1 reviewed p.D61N 1.000 23 0% 18 38.9% 23 56.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DIX,HMMSmart_SM00021 GABARAP 11337 genome.wustl.edu 37 17 7144227 7144227 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007278.1 -1 reviewed p.E100D 1.000 136 0% 83 26.5% 727 26.2% benign(0) tolerated(1) - HMMPfam_MAP1_LC3,superfamily_Ubiquitin-like SLC2A4 6517 genome.wustl.edu 37 17 7189942 7189942 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042.2 +1 reviewed p.N508 0.996 47 0% 54 50% 0 - - - - NULL EIF5A 1984 genome.wustl.edu 37 17 7213091 7213091 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143760.1 +1 validated p.S76L 1.000 83 0% 82 45.1% 1184 46.1% - - - superfamily_Transl_SH3_like NEURL4 84461 genome.wustl.edu 37 17 7226348 7226348 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032442.2 -1 validated p.R838* 1.000 24 0% 21 52.4% 23 47.8% - - - HMMSmart_SM00588 NEURL4 84461 genome.wustl.edu 37 17 7226840 7226840 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032442.2 -1 validated p.T794I 1.000 99 0% 91 42.9% 15 46.6% possibly_damaging(0.662) deleterious(0) deleterious(0.678) HMMSmart_SM00588 NEURL4 84461 genome.wustl.edu 37 17 7228684 7228684 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032442.2 -1 validated p.R492H 1.000 33 0% 39 53.8% 12 58.3% possibly_damaging(0.535) tolerated(0.12) neutral(0.442) NULL ACAP1 9744 genome.wustl.edu 37 17 7253451 7253451 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014716.3 +1 validated p.A656D 1.000 20 0% 17 47.1% 6 50% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SPEM1 374768 genome.wustl.edu 37 17 7324802 7324802 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199339.2 +1 provisional p.R270W 0.638 16 0% 18 55.6% 0 - possibly_damaging(0.868) deleterious(0) deleterious(0.782) NULL C17orf74 201243 genome.wustl.edu 37 17 7330089 7330089 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175734.4 +1 validated p.R260H 0.042 17 0% 17 41.2% 0 - benign(0.006) tolerated(0.12) neutral(0.261) NULL CHRNB1 1140 genome.wustl.edu 37 17 7352061 7352061 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000747.2 +1 reviewed p.L258 1.000 124 0% 102 40.2% 4 50% - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM POLR2A 5430 genome.wustl.edu 37 17 7400989 7400989 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000937.3 +1 validated p.R334 0.582 48 0% 52 32.7% 76 48.6% - - - HMMPfam_RNA_pol_Rpb1_1,superfamily_SSF64484 POLR2A 5430 genome.wustl.edu 37 17 7401470 7401470 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000937.3 +1 validated p.R426C 1.000 62 0% 55 43.6% 83 45.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RNA_pol_Rpb1_2,superfamily_SSF64484 TNFSF12-TNFSF13 407977 genome.wustl.edu 37 17 7463440 7463440 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172089.2 +1 reviewed p.G234R 0.605 24 0% 36 38.9% 20 45% possibly_damaging(0.846) tolerated(0.69) neutral(0.327) HMMPfam_TNF,HMMSmart_TNF,superfamily_TNF_like SENP3 26168 genome.wustl.edu 37 17 7473788 7473788 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000321337 +1 known p.T486A 1.000 19 0% 35 31.4% 56 41% possibly_damaging(0.862) tolerated(0.07) deleterious(0.652) HMMPfam_Peptidase_C48,superfamily_SSF54001 EIF4A1 1973 genome.wustl.edu 37 17 7478520 7478520 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001416.2 +1 validated p.D97N 1.000 121 0% 82 37.8% 614 46% possibly_damaging(0.561) tolerated(0.53) neutral(0.199) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TP53 7157 genome.wustl.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000546.4 -1 reviewed p.R342* 0.307 26 0% 15 53.3% 65 24.6% - - - HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain EFNB3 1949 genome.wustl.edu 37 17 7611772 7611772 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001406.3 +1 reviewed p.R145 0.987 32 0% 38 42.1% 15 53.3% - - - HMMPfam_Ephrin,superfamily_Cupredoxins DNAH2 146754 genome.wustl.edu 37 17 7664229 7664229 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020877.2 +1 validated p.S986Y 0.999 153 0% 104 51% 0 - possibly_damaging(0.885) tolerated(0.05) deleterious(0.692) NULL DNAH2 146754 genome.wustl.edu 37 17 7678157 7678157 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020877.2 +1 validated p.R1528* 1.000 265 0% 155 47.1% 0 - - - - HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7683532 7683532 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020877.2 +1 validated p.A1927V 1.000 119 0% 83 45.8% 0 - possibly_damaging(0.772) deleterious(0.01) deleterious(0.693) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH2 146754 genome.wustl.edu 37 17 7691431 7691431 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020877.2 +1 validated p.F2257L 1.000 45 0% 45 35.6% 0 - benign(0.007) tolerated(0.27) neutral(0.034) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH2 146754 genome.wustl.edu 37 17 7695252 7695252 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020877.2 +1 validated p.G2306 0.025 76 1.3% 88 35.2% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH2 146754 genome.wustl.edu 37 17 7704989 7704989 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020877.2 +1 validated p.E2931D 1.000 26 0% 32 71.9% 0 - benign(0.202) tolerated(0.61) neutral(0.024) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH2 146754 genome.wustl.edu 37 17 7734128 7734128 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020877.2 +1 validated p.F4066L 1.000 42 0% 27 55.6% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_Dynein_heavy KDM6B 23135 genome.wustl.edu 37 17 7751193 7751193 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080424.1 +1 provisional p.P529 0.073 4 0.000 8 0.750 5 80% - - - NULL KDM6B 23135 genome.wustl.edu 37 17 7755004 7755004 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080424.1 +1 provisional p.A1352V 1.000 4 0.000 6 0.833 79 45.5% benign(0.068) tolerated(0.06) neutral(0.327) HMMSmart_SM00558 KDM6B 23135 genome.wustl.edu 37 17 7756402 7756402 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080424.1 +1 provisional p.G1565 1.000 29 0% 31 29% 114 45.6% - - - NULL TMEM88 92162 genome.wustl.edu 37 17 7758398 7758398 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203411.1 +1 validated p.A2 0.994 23 0% 27 51.9% 3 66.6% - - - NULL CHD3 1107 genome.wustl.edu 37 17 7797129 7797129 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005271.2 +1 reviewed p.G326D 1.000 62 0% 39 53.8% 35 51.4% probably_damaging(0.956) - - NULL CHD3 1107 genome.wustl.edu 37 17 7803219 7803219 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005271.2 +1 reviewed p.E909D 0.996 93 0% 74 52.7% 103 50.4% benign(0.004) - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases KCNAB3 9196 genome.wustl.edu 37 17 7826850 7826850 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004732.2 -1 reviewed p.R354H 1.000 25 0% 12 50% 2 50% benign(0.019) deleterious(0.04) neutral(0.350) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red CNTROB 116840 genome.wustl.edu 37 17 7839693 7839693 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380262 +1 known p.R202C 1.000 49 0% 53 47.2% 9 33.3% possibly_damaging(0.938) deleterious(0) deleterious(0.828) NULL ALOX12B 242 genome.wustl.edu 37 17 7976235 7976235 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001139.2 -1 reviewed p.V654M 0.950 47 0% 57 49.1% 3 33.3% benign(0.257) deleterious(0.03) neutral(0.391) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase ALOX12B 242 genome.wustl.edu 37 17 7989523 7989523 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001139.2 -1 reviewed p.V55M 0.226 23 0% 29 37.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase PFAS 5198 genome.wustl.edu 37 17 8161181 8161181 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012393.2 +1 reviewed p.P378S 0.999 92 0% 91 49.5% 9 22.2% possibly_damaging(0.946) deleterious(0.02) deleterious(0.773) HMMPfam_AIRS,superfamily_PurM N-terminal domain-like PFAS 5198 genome.wustl.edu 37 17 8166274 8166274 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012393.2 +1 reviewed p.R458M 1.000 270 0.4% 244 43.4% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like SLC25A35 399512 genome.wustl.edu 37 17 8194241 8194241 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201520.1 -1 provisional p.G216 1.000 27 0% 24 50% 14 64.2% - - - superfamily_Mitoch_carrier SLC25A35 399512 genome.wustl.edu 37 17 8195854 8195854 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_201520.1 -1 provisional p.Q143P 1.000 144 0.7% 105 13.3% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitoch_carrier,HMMPfam_Mito_carr ARHGEF15 22899 genome.wustl.edu 37 17 8219101 8219101 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173728.2 +1 reviewed p.R484C 0.831 52 0% 46 39.1% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ARHGEF15 22899 genome.wustl.edu 37 17 8222360 8222360 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173728.2 +1 reviewed p.R690H 1.000 38 0% 28 39.3% 1 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) superfamily_SSF50729 KRBA2 124751 genome.wustl.edu 37 17 8274638 8274638 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213597.2 -1 provisional p.T72M 0.056 146 0% 100 41% 0 - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box NDEL1 81565 genome.wustl.edu 37 17 8383849 8383849 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000299734 +1 known p.A337 0.000 10 0% 14 35.7% 1 0% - - - NULL MYH10 4628 genome.wustl.edu 37 17 8413228 8413228 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005964.1 -1 validated p.Q967* 1.000 156 0% 102 52% 21 14.2% - - - NULL MFSD6L 162387 genome.wustl.edu 37 17 8701866 8701866 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152599.3 -1 validated p.T191 0.024 67 1.5% 54 50% 0 - - - - NULL PIK3R5 23533 genome.wustl.edu 37 17 8785182 8785182 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142633.1 -1 validated p.R741Q 0.921 72 0% 71 40.8% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PI3K_1B_p101 NTN1 9423 genome.wustl.edu 37 17 9143092 9143092 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004822.2 +1 reviewed p.D541G 1.000 9 0.000 11 0.364 5 40% possibly_damaging(0.705) tolerated(0.11) deleterious(0.526) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C STX8 9482 genome.wustl.edu 37 17 9408431 9408431 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004853.2 -1 reviewed p.W124* 1.000 118 0% 75 48% 27 14.8% - - - NULL STX8 9482 genome.wustl.edu 37 17 9460798 9460798 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004853.2 -1 reviewed p.I55 1.000 158 0% 108 39.8% 23 78.2% - - - NULL USP43 124739 genome.wustl.edu 37 17 9580183 9580183 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153210.3 +1 validated p.G318 0.000 75 0% 54 42.6% 7 42.8% - - - HMMPfam_UCH,superfamily_SSF54001 USP43 124739 genome.wustl.edu 37 17 9596489 9596489 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153210.3 +1 validated p.A467T 0.274 110 0% 70 11.4% 5 40% possibly_damaging(0.808) tolerated(0.11) deleterious(0.576) HMMPfam_UCH,superfamily_SSF54001 MYH13 8735 genome.wustl.edu 37 17 10248790 10248790 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003802.2 -1 validated p.I469 1.000 223 0% 137 49.6% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH13 8735 genome.wustl.edu 37 17 10265472 10265472 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003802.2 -1 validated p.F156L 1.000 163 0% 112 36.6% 0 - possibly_damaging(0.86) deleterious(0) deleterious(0.777) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH8 4626 genome.wustl.edu 37 17 10310041 10310041 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002472.2 -1 reviewed p.P713S 1.000 95 0% 48 47.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH8 4626 genome.wustl.edu 37 17 10316009 10316009 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002472.2 -1 reviewed p.S395Y 1.000 161 0% 84 44% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH8 4626 genome.wustl.edu 37 17 10317756 10317756 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002472.2 -1 reviewed p.R284I 1.000 226 0% 89 46.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH8 4626 genome.wustl.edu 37 17 10322069 10322069 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002472.2 -1 reviewed p.P135L 1.000 166 0% 116 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH4 4622 genome.wustl.edu 37 17 10355321 10355321 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017533.2 -1 validated p.K1225N 1.000 137 0% 57 36.8% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Myosin_tail_1 MYH4 4622 genome.wustl.edu 37 17 10360929 10360929 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017533.2 -1 validated p.P569S 1.000 377 0% 205 43.4% 0 - probably_damaging(0.984) deleterious(0.02) deleterious(0.814) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH4 4622 genome.wustl.edu 37 17 10367894 10367894 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017533.2 -1 validated p.S181 0.975 247 0% 120 40.8% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10406061 10406061 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005963.3 -1 reviewed p.V1035 1.000 487 0% 199 39.7% 0 - - - - NULL MYH1 4619 genome.wustl.edu 37 17 10419660 10419660 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005963.3 -1 reviewed e2-1 1.000 409 0% 191 38.2% 0 - - - - - MYH2 4620 genome.wustl.edu 37 17 10432210 10432210 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100112.1 -1 reviewed p.R1181C 1.000 112 0% 88 42% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10433235 10433235 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100112.1 -1 reviewed p.E952K 1.000 829 0% 421 37.1% 0 - benign(0.017) deleterious(0.01) neutral(0.406) NULL MYH3 4621 genome.wustl.edu 37 17 10541193 10541193 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002470.2 -1 reviewed p.K1263 0.977 91 0% 75 45.3% 0 - - - - HMMPfam_Myosin_tail_1 MYH3 4621 genome.wustl.edu 37 17 10546191 10546191 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002470.2 -1 reviewed p.F511L 1.000 208 0% 128 46.9% 1 100% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH3 4621 genome.wustl.edu 37 17 10549321 10549321 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002470.2 -1 reviewed p.Y309 0.878 125 0% 83 44.6% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 SCO1 6341 genome.wustl.edu 37 17 10596133 10596133 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004589.2 -1 reviewed p.P170 0.994 237 0% 129 41.1% 25 36% - - - HMMPfam_SCO1-SenC,superfamily_Thiordxn-like_fd PIRT 644139 genome.wustl.edu 37 17 10728592 10728592 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101387.1 -1 validated p.S124L 0.973 93 0% 47 44.7% 0 - possibly_damaging(0.706) deleterious(0) deleterious(0.699) NULL DNAH9 1770 genome.wustl.edu 37 17 11556132 11556132 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001372.3 +1 reviewed p.R803I 1.000 205 0% 113 46.9% 1 100% possibly_damaging(0.951) tolerated(0.1) deleterious(0.680) NULL DNAH9 1770 genome.wustl.edu 37 17 11584134 11584134 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001372.3 +1 reviewed p.R1224H 1.000 50 0% 34 44.1% 0 - benign(0.362) deleterious(0) deleterious(0.559) NULL DNAH9 1770 genome.wustl.edu 37 17 11603094 11603094 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001372.3 +1 reviewed p.R1640Q 0.399 110 0% 47 48.9% 1 0% possibly_damaging(0.928) tolerated(0.57) neutral(0.382) HMMPfam_DHC_N2 DNAH9 1770 genome.wustl.edu 37 17 11651013 11651013 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001372.3 +1 reviewed p.L2180 0.998 42 0% 25 52% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11711114 11711114 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001372.3 +1 reviewed p.S2829I 0.996 40 0% 27 37% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11725368 11725368 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001372.3 +1 reviewed p.R2947* 0.203 70 0% 48 39.6% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11840762 11840762 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001372.3 +1 reviewed p.L4195F 1.000 43 0% 37 10.8% 0 - possibly_damaging(0.62) deleterious(0.01) deleterious(0.622) HMMPfam_Dynein_heavy MAP2K4 6416 genome.wustl.edu 37 17 12028610 12028610 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003010.2 +1 reviewed e8-1 1.000 126 0% 83 15.7% 1 0% - - - - MYOCD 93649 genome.wustl.edu 37 17 12656375 12656375 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153604.2 +1 reviewed p.Q590 0.000 72 0% 51 51% 1 0% - - - NULL ARHGAP44 9912 genome.wustl.edu 37 17 12888085 12888085 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014859.4 +1 validated p.S726L 0.909 18 0% 15 33.3% 8 37.5% possibly_damaging(0.907) deleterious(0) deleterious(0.805) NULL LOC100287710 100287710 genome.wustl.edu 37 17 13400075 13400075 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343489.1 +1 model p.E153K 0.659 16 0% 26 42.3% 3 33.3% - - - NULL COX10 1352 genome.wustl.edu 37 17 14005513 14005513 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001303.3 +1 reviewed p.S193F 0.002 116 0% 42 28.6% 7 28.5% benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_UbiA TEKT3 64518 genome.wustl.edu 37 17 15215747 15215747 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031898.2 -1 reviewed p.R310 1.000 76 0% 38 52.6% 0 - - - - HMMPfam_Tektin TRIM16 10626 genome.wustl.edu 37 17 15532179 15532179 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006470.3 -1 reviewed p.D482G 1.000 75 0% 67 43.3% 15 33.3% possibly_damaging(0.931) tolerated(0.1) deleterious(0.664) HMMPfam_SPRY,HMMSmart_SM00449 NCOR1 9611 genome.wustl.edu 37 17 15968804 15968804 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006311.2 -1 reviewed p.T1649M 1.000 169 0.6% 85 40% 27 40.7% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL NCOR1 9611 genome.wustl.edu 37 17 15971393 15971393 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006311.2 -1 reviewed p.S1519L 0.801 92 0% 40 52.5% 16 31.2% possibly_damaging(0.704) deleterious(0.05) deleterious(0.599) NULL TRPV2 51393 genome.wustl.edu 37 17 16330159 16330159 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016113.3 +1 reviewed p.A407T 0.000 67 0% 50 42% 3 0% benign(0) tolerated(0.5) neutral(0.010) NULL TRPV2 51393 genome.wustl.edu 37 17 16335353 16335353 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016113.3 +1 reviewed p.Q576 0.000 20 0% 25 40% 6 0% - - - HMMPfam_Ion_trans FAM211A 388341 genome.wustl.edu 37 17 16347401 16347401 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113567.1 -1 validated p.D179G 1.000 10 0% 15 60% 1 100% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) superfamily_RNI-like FAM211A 388341 genome.wustl.edu 37 17 16351164 16351164 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113567.1 -1 validated p.Q162H 1.000 12 0% 19 47.4% 0 - benign(0.027) deleterious(0.02) neutral(0.385) NULL ZNF287 57336 genome.wustl.edu 37 17 16455334 16455334 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020653.2 -1 validated p.E708* 0.030 375 0% 156 39.7% 4 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF287 57336 genome.wustl.edu 37 17 16456177 16456177 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020653.2 -1 validated p.H427Y 0.985 230 0% 107 12.1% 2 0% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF624 57547 genome.wustl.edu 37 17 16526499 16526499 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020787.2 -1 validated p.R567 0.819 171 0% 84 34.5% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCDC144A 9720 genome.wustl.edu 37 17 16593855 16593855 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014695.1 +1 provisional p.S47 0.001 30 0% 23 52.2% 0 - - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16638657 16638657 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000328495 +1 known p.N508S 0.356 139 0.7% 78 41% 0 - - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16664822 16664822 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014695.1 +1 provisional p.Q1152H 0.240 123 0% 56 30.4% 1 0% benign(0.091) deleterious(0.03) neutral(0.371) NULL MPRIP 23164 genome.wustl.edu 37 17 17041249 17041249 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015134.2 +1 validated p.S252 0.037 26 0% 14 57.1% 28 21.4% - - - NULL MPRIP 23164 genome.wustl.edu 37 17 17077285 17077285 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015134.2 +1 validated p.Q829* 1.000 18 0% 13 30.8% 52 7.6% - - - NULL FLCN 201163 genome.wustl.edu 37 17 17118300 17118300 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144997.5 -1 reviewed p.N513H 1.000 45 0% 47 42.6% 32 68.7% probably_damaging(0.994) tolerated(0.47) neutral(0.463) NULL COPS3 8533 genome.wustl.edu 37 17 17174286 17174286 + Silent SNP G G A rs184858444 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003653.2 -1 reviewed p.F74 0.996 165 0% 86 44.2% 86 54.6% - - - NULL RAI1 10743 genome.wustl.edu 37 17 17698462 17698462 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030665.3 +1 reviewed p.A734T 0.004 33 0% 36 47.2% 8 50% benign(0) tolerated(1) - NULL RAI1 10743 genome.wustl.edu 37 17 17699829 17699829 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030665.3 +1 reviewed p.V1189 0.001 11 0% 10 40% 14 35.7% - - - NULL TOM1L2 146691 genome.wustl.edu 37 17 17788064 17788064 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001082968.1 -1 validated p.R129* 0.997 58 0% 46 45.7% 6 0% - - - HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 LRRC48 83450 genome.wustl.edu 37 17 17907721 17907721 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130090.1 +1 validated p.E348 0.046 122 0% 66 40.9% 11 54.5% - - - NULL ATPAF2 91647 genome.wustl.edu 37 17 17921934 17921934 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145691.3 -1 reviewed p.A267T 0.993 32 0% 35 14.3% 42 0% probably_damaging(0.991) tolerated(0.13) deleterious(0.697) NULL ATPAF2 91647 genome.wustl.edu 37 17 17929705 17929705 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145691.3 -1 reviewed p.D117G 1.000 149 0% 96 37.5% 26 30.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ATP12 MYO15A 51168 genome.wustl.edu 37 17 18054221 18054221 + Silent SNP C C T rs146973735 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016239.3 +1 reviewed p.P2489 0.009 9 0.000 21 0.381 1 100% - - - NULL MYO15A 51168 genome.wustl.edu 37 17 18058728 18058728 + Missense_Mutation SNP G G A rs148595690 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016239.3 +1 reviewed p.R2814Q 0.928 9 0.000 9 0.444 1 0% benign(0.116) - - NULL LLGL1 3996 genome.wustl.edu 37 17 18137994 18137994 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004140.3 +1 reviewed p.I294M 0.999 120 0% 118 49.2% 16 50% possibly_damaging(0.612) deleterious(0) deleterious(0.656) superfamily_WD40 repeat-like,HMMPfam_LLGL FLII 2314 genome.wustl.edu 37 17 18154235 18154235 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002018.2 -1 reviewed p.A565T 1.000 31 0% 42 50% 137 44.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_GEL,HMMPfam_Gelsolin,superfamily_SSF55753 SMCR7 125170 genome.wustl.edu 37 17 18167652 18167652 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148886.1 +1 reviewed p.D324 0.000 14 0% 15 46.7% 14 50% - - - NULL EVPLL 645027 genome.wustl.edu 37 17 18284993 18284993 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145127.1 +1 validated p.P99S 0.029 29 0% 25 60% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Spectrin LGALS9C 654346 genome.wustl.edu 37 17 18387231 18387231 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040078.2 +1 validated p.G28R 0.982 232 0.4% 180 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases FBXW10 10517 genome.wustl.edu 37 17 18654313 18654313 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031456.3 +1 validated p.D357H 0.187 317 0% 194 44.8% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_WD40 repeat-like,superfamily_F-box domain FBXW10 10517 genome.wustl.edu 37 17 18682100 18682100 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031456.3 +1 validated p.S882I 0.000 62 0% 42 38.1% 0 - possibly_damaging(0.948) deleterious(0) deleterious(0.836) NULL RNF112 7732 genome.wustl.edu 37 17 19315844 19315844 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007148.4 +1 reviewed p.G43 0.703 42 0% 48 25% 0 - - - - superfamily_SSF57850 RNF112 7732 genome.wustl.edu 37 17 19316290 19316290 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007148.4 +1 reviewed p.R141C 0.414 8 0.000 5 0.800 1 0% - - - superfamily_SSF52540 ALDH3A1 218 genome.wustl.edu 37 17 19642968 19642968 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000691.4 -1 reviewed p.D323 0.725 12 0% 12 66.7% 0 - - - - HMMPfam_Aldedh,superfamily_ALDH-like ALDH3A1 218 genome.wustl.edu 37 17 19646045 19646045 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000333946 -1 known p.P215L 0.000 7 0.000 11 0.364 0 - - - - NULL ULK2 9706 genome.wustl.edu 37 17 19685380 19685380 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142610.1 -1 reviewed p.R821W 1.000 41 0% 34 41.2% 11 72.7% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL ULK2 9706 genome.wustl.edu 37 17 19746483 19746483 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142610.1 -1 reviewed p.S199N 1.000 144 0% 83 39.8% 9 55.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SPECC1 92521 genome.wustl.edu 37 17 20135607 20135607 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033553.1 +1 validated p.R747H 0.997 24 0% 11 45.5% 93 50.5% probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL CCDC144C 348254 genome.wustl.edu 37 17 20295741 20295741 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000425519 +1 known p.K1054T 0.213 117 0% 49 34.7% 0 - probably_damaging(0.983) deleterious(0.05) deleterious(0.774) NULL DHRS7B 25979 genome.wustl.edu 37 17 21094335 21094335 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015510.3 +1 validated p.K283E 1.000 201 0% 126 48.4% 73 57.5% possibly_damaging(0.46) tolerated(0.31) neutral(0.178) superfamily_NAD(P)-bd TMEM11 8834 genome.wustl.edu 37 17 21101684 21101684 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003876.2 -1 validated p.A178T 1.000 56 0% 57 52.6% 68 50% possibly_damaging(0.948) tolerated(0.09) deleterious(0.688) NULL MAP2K3 5606 genome.wustl.edu 37 17 21203950 21203950 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145109.2 +1 reviewed p.G87S 1.000 59 0% 43 20.9% 110 45.4% benign(0.003) tolerated(0.08) neutral(0.300) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase LOC440419 440419 genome.wustl.edu 37 17 25749603 25749603 + RNA SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_040504.2 +1 model NULL 0.001 10 0.000 9 0.444 0 - - - - - NOS2 4843 genome.wustl.edu 37 17 26105793 26105793 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000625.4 -1 reviewed p.E402K 1.000 61 0% 35 28.6% 0 - possibly_damaging(0.698) deleterious(0) deleterious(0.696) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain C17orf108 201229 genome.wustl.edu 37 17 26207174 26207174 + Silent SNP C C T rs113552125 byCluster;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508862 -1 known p.Q85 0.000 35 0% 35 34.3% 2 50% - - - NULL NLK 51701 genome.wustl.edu 37 17 26449683 26449683 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016231.4 +1 validated p.N171 1.000 412 0.2% 129 53.5% 6 33.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TNFAIP1 7126 genome.wustl.edu 37 17 26667447 26667447 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021137.4 +1 reviewed p.A106 0.996 77 0% 78 47.4% 37 32.4% - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain SEBOX 645832 genome.wustl.edu 37 17 26691867 26691867 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080837.2 -1 validated p.T74A 1.000 33 0% 32 28.1% 0 - probably_damaging(0.999) tolerated(0.35) deleterious(0.511) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like VTN 7448 genome.wustl.edu 37 17 26695018 26695018 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000638.3 -1 reviewed p.A348T 0.992 9 0.000 18 0.500 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Hemopexin,PatternScan_HEMOPEXIN SARM1 23098 genome.wustl.edu 37 17 26711558 26711558 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015077.2 +1 validated p.R424W 0.721 8 0.000 12 0.500 0 - - - - NULL FOXN1 8456 genome.wustl.edu 37 17 26864205 26864205 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003593.2 +1 reviewed p.P566 0.002 31 0% 26 26.9% 0 - - - - NULL SPAG5 10615 genome.wustl.edu 37 17 26912360 26912360 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006461.3 -1 reviewed p.D644Y 1.000 66 0% 65 49.2% 46 32.6% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL KIAA0100 9703 genome.wustl.edu 37 17 26961803 26961803 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014680.2 -1 validated p.L934 1.000 107 0.9% 77 49.4% 43 41.8% - - - NULL KIAA0100 9703 genome.wustl.edu 37 17 26962611 26962611 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014680.2 -1 validated p.G665E 0.929 24 0% 20 35% 34 50% benign(0.008) tolerated(0.25) neutral(0.037) NULL KIAA0100 9703 genome.wustl.edu 37 17 26970296 26970296 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014680.2 -1 validated p.R94 0.790 117 0% 89 41.6% 17 47% - - - NULL SUPT6H 6830 genome.wustl.edu 37 17 27011946 27011946 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003170.3 +1 validated p.R818 1.000 64 0% 41 22% 43 16.2% - - - HMMSmart_SM00732 SUPT6H 6830 genome.wustl.edu 37 17 27026860 27026860 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003170.3 +1 validated p.V1504M 1.000 140 0.7% 110 38.2% 55 43.6% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL RAB34 83871 genome.wustl.edu 37 17 27042513 27042513 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144943.1 -1 validated p.V188A 1.000 56 0% 63 44.4% 117 47% benign(0.041) tolerated(0.18) neutral(0.059) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases TLCD1 116238 genome.wustl.edu 37 17 27051660 27051660 + Silent SNP G G A rs148128712 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138463.3 -1 validated p.G204 0.371 73 0% 59 37.3% 26 46.1% - - - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC TLCD1 116238 genome.wustl.edu 37 17 27051812 27051812 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138463.3 -1 validated p.R154C 0.270 34 0% 34 47.1% 17 47% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC NEK8 284086 genome.wustl.edu 37 17 27067510 27067510 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178170.2 +1 reviewed p.H483Y 1.000 28 0% 28 60.7% 4 0% benign(0.001) tolerated(1) - superfamily_RCC1/BLIP-II TRAF4 9618 genome.wustl.edu 37 17 27075639 27075639 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004295.3 +1 reviewed p.T245 0.183 23 0% 17 23.5% 200 53% - - - HMMPfam_zf-TRAF,superfamily_TRAF domain-like C17orf63 55731 genome.wustl.edu 37 17 27086836 27086836 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077498.1 -1 validated p.A47 0.941 112 0% 85 42.4% 17 41.1% - - - NULL PHF12 57649 genome.wustl.edu 37 17 27233900 27233900 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033561.1 -1 validated p.I885S 1.000 62 0% 62 17.7% 44 6.8% possibly_damaging(0.923) deleterious(0.01) deleterious(0.778) NULL SEZ6 124925 genome.wustl.edu 37 17 27285066 27285066 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178860.4 -1 validated p.V734A 1.000 25 0% 18 44.4% 0 - benign(0.405) deleterious(0) deleterious(0.575) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain MYO18A 399687 genome.wustl.edu 37 17 27425844 27425844 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_078471.3 -1 validated p.D1260 1.000 113 0% 104 51.9% 15 46.6% - - - NULL TAOK1 57551 genome.wustl.edu 37 17 27837899 27837899 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020791.1 +1 validated p.N531 1.000 170 0% 71 47.9% 2 0% - - - superfamily_Protein kinase-like (PK-like) TP53I13 90313 genome.wustl.edu 37 17 27898736 27898736 + Missense_Mutation SNP G G A rs78481811 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138349.2 +1 provisional p.R104Q 0.998 55 1.8% 86 47.7% 74 56.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GIT1 28964 genome.wustl.edu 37 17 27902888 27902888 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001085454.1 -1 validated p.V574A 0.987 24 0% 46 63% 49 53% benign(0.003) tolerated(0.68) neutral(0.002) NULL ANKRD13B 124930 genome.wustl.edu 37 17 27935228 27935228 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152345.4 +1 validated p.V131M 1.000 62 0% 57 26.3% 8 37.5% possibly_damaging(0.936) tolerated(0.14) deleterious(0.631) superfamily_Ankyrin repeat EFCAB5 374786 genome.wustl.edu 37 17 28407095 28407095 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198529.3 +1 validated p.A1011 0.999 200 0% 124 46% 0 - - - - NULL NSRP1 84081 genome.wustl.edu 37 17 28511663 28511663 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032141.2 +1 validated p.G216 0.831 65 0% 29 51.7% 9 66.6% - - - NULL CPD 1362 genome.wustl.edu 37 17 28750601 28750601 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001304.3 +1 reviewed p.E579* 1.000 303 0% 144 41% 7 28.5% - - - HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 ATAD5 79915 genome.wustl.edu 37 17 29195422 29195422 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024857.3 +1 provisional p.K1102R 0.852 485 0% 180 40% 2 50% probably_damaging(0.986) deleterious(0.03) deleterious(0.799) superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD5 79915 genome.wustl.edu 37 17 29214209 29214209 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024857.3 +1 provisional e19-1 1.000 318 0% 122 50% 0 - - - - - ATAD5 79915 genome.wustl.edu 37 17 29219634 29219634 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024857.3 +1 provisional p.S1423N 0.950 269 0% 123 39% 3 0% benign(0.043) deleterious(0.01) neutral(0.408) superfamily_P-loop containing nucleoside triphosphate hydrolases RNF135 84282 genome.wustl.edu 37 17 29324485 29324485 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000434242 +1 known p.G66R 0.000 39 0% 37 29.7% 0 - unknown(0) - - NULL LOC400590 400590 genome.wustl.edu 37 17 29361626 29361626 + RNA SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_042032.2 +1 model NULL 0.996 14 0.000 6 0.667 1 100% - - - - NF1 4763 genome.wustl.edu 37 17 29657347 29657347 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042492.2 +1 reviewed p.T1881 1.000 293 0% 152 40.8% 12 58.3% - - - NULL RAB11FIP4 84440 genome.wustl.edu 37 17 29849043 29849043 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032932.3 +1 validated p.R290Q 1.000 52 3.8% 52 55.8% 22 54.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SUZ12 23512 genome.wustl.edu 37 17 30274675 30274675 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015355.2 +1 reviewed p.E142D 1.000 530 0.2% 252 42.1% 3 0% probably_damaging(0.963) tolerated(0.51) neutral(0.415) NULL LRRC37B 114659 genome.wustl.edu 37 17 30348735 30348735 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052888.2 +1 validated p.K190N 0.001 117 0% 55 45.5% 6 33.3% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL LRRC37B 114659 genome.wustl.edu 37 17 30361941 30361941 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052888.2 +1 validated p.R663 0.195 175 0% 84 46.4% 11 36.3% - - - HMMSmart_SM00369,superfamily_L domain-like RHOT1 55288 genome.wustl.edu 37 17 30529839 30529839 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033568.1 +1 validated p.V418M 1.000 534 0% 190 36.8% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 RHOT1 55288 genome.wustl.edu 37 17 30530949 30530949 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033568.1 +1 validated p.A458V 1.000 334 0% 143 39.2% 25 52% benign(0.086) tolerated(0.47) neutral(0.017) HMMPfam_Miro,superfamily_SSF52540 MYO1D 4642 genome.wustl.edu 37 17 31087633 31087633 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015194.1 -1 provisional p.R350C 1.000 258 0% 105 48.6% 17 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000226049 0 genome.wustl.edu 37 17 32366110 32366110 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000430493 -1 known p.E204V 1.000 414 0% 248 41.1% 3 0% - - - NULL TMEM132E 124842 genome.wustl.edu 37 17 32959770 32959770 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207313.1 +1 provisional p.R420 1.000 54 0% 49 42.9% 1 0% - - - NULL TMEM132E 124842 genome.wustl.edu 37 17 32962042 32962042 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207313.1 +1 provisional p.R548Q 0.896 9 0.000 7 0.714 0 - possibly_damaging(0.865) tolerated(0.11) deleterious(0.607) NULL RFFL 117584 genome.wustl.edu 37 17 33348733 33348733 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001017368.1 -1 validated p.R83H 1.000 61 0% 43 44.2% 12 33.3% possibly_damaging(0.771) deleterious(0.02) deleterious(0.669) superfamily_FYVE/PHD zinc finger SLFN5 162394 genome.wustl.edu 37 17 33592417 33592417 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144975.3 +1 validated p.A729V 0.010 162 0% 122 25.4% 10 10% benign(0) tolerated(0.15) neutral(0.241) superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN11 91607 genome.wustl.edu 37 17 33689952 33689952 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001104587.1 -1 validated p.P292L 0.000 277 0% 158 50% 5 0% benign(0.03) deleterious(0.01) neutral(0.407) HMMPfam_AAA_4 SLFN14 342618 genome.wustl.edu 37 17 33885017 33885017 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001129820.1 -1 provisional p.V22A 0.555 115 0% 62 14.5% 0 - probably_damaging(0.971) tolerated(0.25) neutral(0.450) NULL PEX12 5193 genome.wustl.edu 37 17 33904203 33904203 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000286.2 -1 reviewed p.Q178H 1.000 106 0% 80 37.5% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pex2_Pex12 AP2B1 163 genome.wustl.edu 37 17 34009836 34009836 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001030006.1 +1 reviewed p.N816S 1.000 134 0% 74 43.2% 88 45.4% benign(0.049) tolerated(0.73) neutral(0.005) HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,superfamily_Clathrin adaptor appendage domain GAS2L2 246176 genome.wustl.edu 37 17 34079505 34079505 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139285.2 -1 validated p.R122Q 1.000 39 0% 38 47.4% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain MMP28 79148 genome.wustl.edu 37 17 34094811 34094811 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024302.3 -1 reviewed p.R376Q 0.989 39 0% 35 48.6% 0 - - - - NULL TAF15 8148 genome.wustl.edu 37 17 34163188 34163188 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139215.1 +1 reviewed p.G242 1.000 278 0% 109 44% 110 48.1% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RDM1 201299 genome.wustl.edu 37 17 34247233 34247233 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145654.3 -1 reviewed p.I237 0.282 511 0.2% 246 47.2% 0 - - - - superfamily_dsRNA-binding domain-like MYO19 80179 genome.wustl.edu 37 17 34869278 34869278 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025109.5 -1 validated p.I296 1.000 166 0% 103 39.8% 10 30% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MRM1 79922 genome.wustl.edu 37 17 34964217 34964217 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024864.3 +1 validated p.R250W 0.790 88 0% 79 50.6% 7 14.2% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_SpoU_methylase,superfamily_alpha/beta knot MRM1 79922 genome.wustl.edu 37 17 34964441 34964441 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024864.3 +1 validated p.V292 1.000 30 0% 26 42.3% 4 0% - - - HMMPfam_SpoU_methylase,superfamily_alpha/beta knot C17orf78 284099 genome.wustl.edu 37 17 35733071 35733071 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173625.3 +1 validated p.S13P 0.985 147 0% 72 54.2% 0 - possibly_damaging(0.449) tolerated(0.13) neutral(0.399) NULL SYNRG 11276 genome.wustl.edu 37 17 35879084 35879084 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007247.4 -1 reviewed p.E1302K 1.000 59 0% 25 64% 27 62.9% possibly_damaging(0.947) tolerated(0.1) deleterious(0.677) NULL GPR179 440435 genome.wustl.edu 37 17 36484913 36484913 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004334.2 -1 validated p.S1513 0.089 234 0% 148 40.5% 0 - - - - NULL GPR179 440435 genome.wustl.edu 37 17 36490939 36490939 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004334.2 -1 validated p.R541H 1.000 3 0.000 6 0.833 0 - benign(0.067) tolerated(0.41) neutral(0.019) HMMPfam_7tm_3 GPR179 440435 genome.wustl.edu 37 17 36498990 36498990 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004334.2 -1 validated p.R228K 0.888 22 0% 28 39.3% 0 - benign(0.003) tolerated(1) - NULL ARHGAP23 57636 genome.wustl.edu 37 17 36638790 36638790 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020876.1 +1 provisional p.C832 1.000 10 0% 16 62.5% 8 25% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP PSMB3 5691 genome.wustl.edu 37 17 36912144 36912144 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002795.2 +1 reviewed p.R66H 1.000 64 0% 61 45.9% 417 46% benign(0.146) tolerated(0.12) neutral(0.273) HMMPfam_Proteasome,superfamily_SSF56235 PIP4K2B 8396 genome.wustl.edu 37 17 36927474 36927474 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003559.4 -1 reviewed p.D287N 0.994 81 0% 74 51.4% 36 50% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like C17orf98 388381 genome.wustl.edu 37 17 36993491 36993491 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080465.2 -1 validated p.D70E 0.968 124 0% 82 22% 1 100% benign(0.307) tolerated(1) neutral(0.096) NULL RPL23 9349 genome.wustl.edu 37 17 37008870 37008870 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000978.3 -1 reviewed p.E71D 1.000 185 0% 104 41.3% 3226 47.2% benign(0.016) tolerated(0.33) neutral(0.025) HMMPfam_Ribosomal_L14,superfamily_Ribosomal protein L14 FBXO47 494188 genome.wustl.edu 37 17 37119115 37119115 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008777.2 -1 validated p.I55S 0.998 180 0% 81 42% 0 - possibly_damaging(0.909) deleterious(0) deleterious(0.806) HMMPfam_F-box FLJ43826 342666 genome.wustl.edu 37 17 37187700 37187700 + RNA SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_040620.2 +1 model NULL 0.000 78 0% 60 53.3% 0 - - - - - CACNB1 782 genome.wustl.edu 37 17 37333570 37333570 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199247.1 -1 reviewed p.L500 1.000 13 0.000 9 0.556 0 - - - - NULL RPL19 6143 genome.wustl.edu 37 17 37359355 37359355 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000981.3 +1 reviewed p.R117C 1.000 79 0% 64 45.3% 3764 48.7% benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_Ribosomal_L19e,superfamily_Ribosomal protein L19 (L19e) FBXL20 84961 genome.wustl.edu 37 17 37431346 37431346 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032875.2 -1 validated p.T235I 1.000 135 0% 92 50% 16 37.5% possibly_damaging(0.932) deleterious(0.01) deleterious(0.784) HMMSmart_SM00367,superfamily_RNI-like MED1 5469 genome.wustl.edu 37 17 37565404 37565404 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004774.3 -1 reviewed p.H1024Y 1.000 62 0% 58 46.6% 7 42.8% unknown(0) deleterious(0) - NULL MED1 5469 genome.wustl.edu 37 17 37579656 37579656 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004774.3 -1 reviewed p.Y340C 1.000 312 0% 158 43% 16 37.5% unknown(0) deleterious(0.02) - HMMPfam_Med1-Trap220 ERBB2 2064 genome.wustl.edu 37 17 37879820 37879820 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004448.2 +1 reviewed p.A705 0.003 37 0% 34 52.9% 124 43.5% - - - superfamily_Protein kinase-like (PK-like) GSDMB 55876 genome.wustl.edu 37 17 38061075 38061075 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042471.1 -1 reviewed p.V401A 0.002 69 1.4% 37 32.4% 17 23.5% possibly_damaging(0.892) tolerated(0.05) deleterious(0.697) NULL MED24 9862 genome.wustl.edu 37 17 38178256 38178256 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014815.3 -1 reviewed p.R859* 1.000 43 0% 42 14.3% 103 0% - - - NULL MED24 9862 genome.wustl.edu 37 17 38178658 38178658 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014815.3 -1 reviewed p.E838K 1.000 26 0% 25 68% 80 36.2% probably_damaging(0.99) tolerated(0.21) deleterious(0.485) NULL THRA 7067 genome.wustl.edu 37 17 38249402 38249402 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003250.4 +1 reviewed p.R414W 1.000 30 0% 30 30% 39 38.4% probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL THRA 7067 genome.wustl.edu 37 17 38249485 38249485 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003250.4 +1 reviewed p.Q441H 1.000 13 0.000 9 0.556 44 59% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NR1D1 9572 genome.wustl.edu 37 17 38253454 38253454 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021724.2 -1 provisional p.D78 0.013 72 0% 60 56.7% 9 33.3% - - - NULL MSL1 339287 genome.wustl.edu 37 17 38282617 38282617 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012241.1 +1 validated p.P54L 1.000 122 0% 96 30.2% 41 43.9% benign(0) tolerated(0.14) neutral(0.249) NULL CASC3 22794 genome.wustl.edu 37 17 38318012 38318012 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007359.4 +1 reviewed p.E102* 1.000 104 0% 66 47% 20 15% - - - NULL RARA 5914 genome.wustl.edu 37 17 38506076 38506076 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000964.2 +1 validated p.T123M 1.000 51 0% 48 29.2% 27 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) TNS4 84951 genome.wustl.edu 37 17 38652326 38652326 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032865.5 -1 validated p.L118M 1.000 29 0% 30 23.3% 8 25% possibly_damaging(0.945) tolerated(0.07) deleterious(0.709) NULL KRT222 125113 genome.wustl.edu 37 17 38813645 38813645 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152349.2 -1 validated p.G206 0.487 649 0% 336 40.2% 0 - - - - NULL KRT24 192666 genome.wustl.edu 37 17 38855715 38855715 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019016.2 -1 reviewed p.L448M 1.000 85 1.2% 63 49.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament,PatternScan_IF KRT26 353288 genome.wustl.edu 37 17 38926124 38926124 + Missense_Mutation SNP G G A rs188607342 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181539.4 -1 reviewed p.T284M 0.000 176 0.6% 94 39.4% 0 - possibly_damaging(0.836) deleterious(0.02) deleterious(0.703) superfamily_Prefoldin,HMMPfam_Filament KRT10 3858 genome.wustl.edu 37 17 38976300 38976300 + Splice_Site SNP C C T rs112752242 byCluster TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000421.3 -1 reviewed e5+1 1.000 163 0% 117 37.6% 0 - - - - - KRT12 3859 genome.wustl.edu 37 17 39021177 39021177 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000223.3 -1 reviewed p.A230T 1.000 55 0% 36 44.4% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Filament KRT39 390792 genome.wustl.edu 37 17 39118686 39118686 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213656.3 -1 reviewed p.R280C 1.000 253 0% 121 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT39 390792 genome.wustl.edu 37 17 39122766 39122766 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213656.3 -1 reviewed p.R115* 0.999 273 0.4% 125 44% 0 - - - - HMMPfam_Filament KRTAP1-4 728255 genome.wustl.edu 37 17 39186036 39186036 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000377747 -1 known p.R99C 1.000 11 0% 13 53.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Keratin_B2 KRTAP4-12 83755 genome.wustl.edu 37 17 39279830 39279830 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031854.2 -1 reviewed p.R182H 0.998 54 0% 70 17.1% 0 - unknown(0) tolerated(0.18) - NULL KRTAP4-2 85291 genome.wustl.edu 37 17 39334307 39334307 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033062.2 -1 reviewed p.R37H 0.195 17 0% 19 26.3% 0 - unknown(0) deleterious(0.01) - HMMPfam_Keratin_B2 KRT33B 3884 genome.wustl.edu 37 17 39521085 39521085 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002279.3 -1 reviewed p.R348Q 1.000 25 0% 33 18.2% 0 - probably_damaging(0.96) deleterious(0.02) deleterious(0.786) HMMPfam_Filament KRT31 3881 genome.wustl.edu 37 17 39551105 39551105 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002277.2 -1 reviewed p.D364E 0.991 59 0% 44 36.4% 0 - benign(0.216) tolerated(0.17) neutral(0.080) HMMPfam_Filament KRT37 8688 genome.wustl.edu 37 17 39577646 39577646 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003770.4 -1 reviewed p.R405Q 0.689 52 0% 47 59.6% 0 - benign(0.343) deleterious(0.04) neutral(0.457) HMMPfam_Filament,PatternScan_IF KRT37 8688 genome.wustl.edu 37 17 39579081 39579081 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003770.4 -1 reviewed p.Q227H 0.951 16 0% 17 52.9% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Filament KRT37 8688 genome.wustl.edu 37 17 39580631 39580631 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003770.4 -1 reviewed p.V49M 0.000 14 0% 24 54.2% 0 - benign(0.002) tolerated(0.05) neutral(0.345) NULL KRT38 8687 genome.wustl.edu 37 17 39594526 39594526 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006771.3 -1 reviewed p.R354C 0.988 38 0% 36 13.9% 0 - possibly_damaging(0.703) deleterious(0.02) deleterious(0.635) HMMPfam_Filament KRT35 3886 genome.wustl.edu 37 17 39636967 39636967 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002280.4 -1 reviewed p.R128H 0.999 21 0% 19 57.9% 1 0% possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_Filament KRT19 3880 genome.wustl.edu 37 17 39680125 39680125 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002276.4 -1 reviewed p.R358Q 1.000 13 0% 11 72.7% 87 6.8% benign(0.025) tolerated(0.19) neutral(0.051) HMMPfam_Filament KRT19 3880 genome.wustl.edu 37 17 39680669 39680669 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002276.4 -1 reviewed p.Q262* 1.000 38 0% 33 57.6% 82 4.8% - - - superfamily_Prefoldin,HMMPfam_Filament KRT9 3857 genome.wustl.edu 37 17 39723956 39723956 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000226.3 -1 reviewed p.S481R 0.835 288 0% 214 44.4% 0 - unknown(0) deleterious(0.02) - NULL KRT16 3868 genome.wustl.edu 37 17 39767403 39767403 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005557.3 -1 reviewed p.R284H 0.367 32 0% 24 45.8% 78 57.6% probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMPfam_Filament JUP 3728 genome.wustl.edu 37 17 39914987 39914987 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002230.2 -1 reviewed p.G545C 0.984 12 0% 11 72.7% 260 48.4% probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMSmart_ARM,superfamily_ARM-type_fold JUP 3728 genome.wustl.edu 37 17 39920983 39920983 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002230.2 -1 reviewed p.S380 0.055 20 0% 16 25% 187 44.3% - - - HMMPfam_Arm,HMMSmart_ARM,superfamily_ARM-type_fold FKBP10 60681 genome.wustl.edu 37 17 39976559 39976559 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021939.3 +1 reviewed p.V368I 1.000 36 0% 41 31.7% 128 63.2% possibly_damaging(0.463) tolerated(0.82) neutral(0.152) HMMPfam_FKBP_C,superfamily_SSF54534 NT5C3L 115024 genome.wustl.edu 37 17 39991330 39991330 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052935.4 -1 validated p.R66W 0.772 145 0% 93 50.5% 49 46.9% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_UMPH-1,superfamily_HAD-like ACLY 47 genome.wustl.edu 37 17 40034433 40034433 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001096.2 -1 reviewed p.L804I 1.000 23 0% 22 45.5% 196 50.5% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Citrate_synthase_core TTC25 83538 genome.wustl.edu 37 17 40095415 40095415 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000377543 +1 known p.A350T 1.000 41 0% 24 37.5% 2 50% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like KCNH4 23415 genome.wustl.edu 37 17 40315313 40315313 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012285.2 -1 reviewed p.E839D 0.995 11 0% 23 39.1% 0 - possibly_damaging(0.882) tolerated(0.7) neutral(0.346) NULL GHDC 84514 genome.wustl.edu 37 17 40342709 40342709 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032484.4 -1 validated p.G407 0.009 15 0% 19 47.4% 20 35% - - - HMMPfam_GH3 STAT5B 6777 genome.wustl.edu 37 17 40359720 40359720 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012448.3 -1 reviewed p.P645S 1.000 169 0% 86 37.2% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 STAT5B 6777 genome.wustl.edu 37 17 40364138 40364138 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012448.3 -1 reviewed p.F515S 1.000 43 0% 54 40.7% 16 31.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_P53_like_DNA_bnd,HMMPfam_STAT_bind STAT5B 6777 genome.wustl.edu 37 17 40375473 40375473 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012448.3 -1 reviewed p.E159D 1.000 91 2.2% 58 46.6% 13 38.4% possibly_damaging(0.852) tolerated(0.05) deleterious(0.673) HMMPfam_STAT_alpha,superfamily_STAT HSD17B1P1 643646 genome.wustl.edu 37 17 40699333 40699333 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000225928 +1 known p.V105M 0.008 11 0% 16 50% 2 0% benign(0.006) tolerated(1) - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains COASY 80347 genome.wustl.edu 37 17 40714711 40714711 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042532.2 +1 validated p.S53F 0.999 8 0.000 10 0.700 63 57.1% benign(0.281) deleterious(0.04) neutral(0.435) NULL FAM134C 162427 genome.wustl.edu 37 17 40734157 40734157 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178126.3 -1 validated p.R359C 0.356 35 0% 30 46.7% 37 32.4% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL TUBG2 27175 genome.wustl.edu 37 17 40811922 40811922 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016437.2 +1 validated p.F40 0.992 15 0% 23 34.8% 5 0% - - - HMMPfam_Tubulin,superfamily_Tubulin_FtsZ TUBG2 27175 genome.wustl.edu 37 17 40817537 40817537 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016437.2 +1 validated p.R217H 1.000 63 0% 60 40% 36 50% possibly_damaging(0.944) tolerated(0.11) deleterious(0.660) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ EZH1 2145 genome.wustl.edu 37 17 40854574 40854574 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001991.3 -1 validated p.I740 0.990 41 0% 21 28.6% 16 25% - - - NULL PSME3 10197 genome.wustl.edu 37 17 40991365 40991365 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176863.1 +1 reviewed p.R231W 1.000 133 0.8% 97 45.4% 38 50% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_PA28_beta,superfamily_Prot_act_regA G6PC 2538 genome.wustl.edu 37 17 41061432 41061432 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000151.2 +1 reviewed p.S187P 1.000 178 0% 93 52.7% 0 - probably_damaging(0.984) tolerated(0.07) deleterious(0.750) HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase BRCA1 672 genome.wustl.edu 37 17 41223140 41223140 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007294.3 -1 reviewed p.T1597 0.461 115 0% 69 46.4% 8 25% - - - NULL BRCA1 672 genome.wustl.edu 37 17 41234451 41234451 + Nonsense_Mutation SNP G G A rs41293455 byCluster TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007294.3 -1 reviewed p.R1443* 0.001 192 0% 123 43.1% 6 16.6% - - - NULL BRCA1 672 genome.wustl.edu 37 17 41244723 41244723 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007294.3 -1 reviewed p.A942V 0.028 245 0% 108 12% 4 0% probably_damaging(0.959) deleterious(0.03) deleterious(0.767) NULL DHX8 1659 genome.wustl.edu 37 17 41584454 41584454 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004941.1 +1 reviewed p.E604D 1.000 29 0% 27 37% 19 42.1% possibly_damaging(0.924) deleterious(0.02) deleterious(0.756) HMMSmart_DEXDc,superfamily_SSF52540 DHX8 1659 genome.wustl.edu 37 17 41598247 41598247 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004941.1 +1 reviewed p.K1022N 1.000 59 0% 34 52.9% 17 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HA2,superfamily_SSF52540 TMEM101 84336 genome.wustl.edu 37 17 42089384 42089384 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032376.2 -1 provisional p.R229Q 0.974 36 0% 35 22.9% 55 50.9% possibly_damaging(0.933) tolerated(0.07) deleterious(0.698) NULL HDAC5 10014 genome.wustl.edu 37 17 42161198 42161198 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001015053.1 -1 reviewed p.A778V 1.000 23 0% 25 16% 46 28.2% benign(0.001) tolerated(1) - HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase C17orf53 78995 genome.wustl.edu 37 17 42225701 42225701 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024032.3 +1 validated p.G177E 0.079 63 0% 53 32.1% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC4A1 6521 genome.wustl.edu 37 17 42333080 42333080 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000342.3 -1 reviewed p.M587I 0.919 70 0% 67 49.3% 0 - benign(0.013) deleterious(0.03) neutral(0.365) HMMPfam_HCO3_cotransp ITGA2B 3674 genome.wustl.edu 37 17 42463230 42463230 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000419.3 -1 reviewed p.L124M 1.000 24 0% 37 16.2% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) superfamily_Integrin alpha N-terminal domain GPATCH8 23131 genome.wustl.edu 37 17 42475391 42475391 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002909.1 -1 validated p.A1352S 1.000 61 0% 54 11.1% 33 21.2% probably_damaging(0.998) tolerated(0.3) deleterious(0.503) NULL GPATCH8 23131 genome.wustl.edu 37 17 42477196 42477196 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002909.1 -1 validated p.A750V 0.388 118 0% 94 42.6% 14 71.4% unknown(0) tolerated(0.05) - NULL GPATCH8 23131 genome.wustl.edu 37 17 42478499 42478499 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002909.1 -1 validated p.A316T 1.000 236 0% 148 10.8% 5 0% unknown(0) deleterious(0) - NULL FZD2 2535 genome.wustl.edu 37 17 42636007 42636007 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001466.2 +1 reviewed p.T317 0.773 16 0% 31 48.4% 34 58.8% - - - HMMPfam_Frizzled CCDC43 124808 genome.wustl.edu 37 17 42757952 42757952 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144609.2 -1 validated e4+1 1.000 163 0.6% 85 43.5% 4 100% - - - - CCDC43 124808 genome.wustl.edu 37 17 42759496 42759496 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144609.2 -1 validated p.Q101H 1.000 182 0% 124 44.4% 16 37.5% possibly_damaging(0.923) deleterious(0.03) deleterious(0.737) NULL GJC1 10052 genome.wustl.edu 37 17 42882790 42882790 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080383.1 -1 reviewed p.E132D 0.985 181 0% 121 44.6% 1 0% benign(0) tolerated(0.83) neutral(0.001) NULL HIGD1B 51751 genome.wustl.edu 37 17 42927728 42927728 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016438.2 +1 provisional p.Y88 0.952 101 0% 80 42.5% 5 40% - - - NULL CCDC103 388389 genome.wustl.edu 37 17 42980060 42980060 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213607.1 +1 provisional p.G202S 0.103 30 0% 28 32.1% 1 0% benign(0.023) tolerated(0.51) neutral(0.010) NULL GFAP 2670 genome.wustl.edu 37 17 42985443 42985443 + Missense_Mutation SNP G G A rs121909717 byCluster;byFrequency TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002055.3 -1 reviewed p.R416W 0.999 108 0% 81 42% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KIF18B 146909 genome.wustl.edu 37 17 43012237 43012237 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080443.1 -1 provisional p.D180N 1.000 13 0% 17 58.8% 5 20% benign(0.023) tolerated(0.18) neutral(0.057) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases PLCD3 113026 genome.wustl.edu 37 17 43195394 43195394 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000322765 -1 known p.D409 0.572 14 0% 23 34.8% 29 51.7% - - - HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases MAP3K14 9020 genome.wustl.edu 37 17 43342550 43342550 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000344686 -1 known p.A886T 1.000 45 0% 32 15.6% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CRHR1 1394 genome.wustl.edu 37 17 43884240 43884240 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000293493 +1 known p.S8 0.044 7 0.000 14 0.571 0 - - - - superfamily_SSF111418 SPPL2C 162540 genome.wustl.edu 37 17 43923709 43923709 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175882.2 +1 validated p.A479 1.000 44 0% 55 47.3% 0 - - - - HMMSmart_SM00730,HMMPfam_Peptidase_A22B SPPL2C 162540 genome.wustl.edu 37 17 43924089 43924089 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175882.2 +1 validated p.D606G 0.386 22 0% 24 50% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL WNT3 7473 genome.wustl.edu 37 17 44846034 44846034 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030753.3 -1 reviewed p.S240 0.990 23 0% 26 42.3% 1 100% - - - HMMPfam_wnt,HMMSmart_WNT1 WNT3 7473 genome.wustl.edu 37 17 44846064 44846064 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030753.3 -1 reviewed p.I230 0.992 18 0% 25 36% 2 0% - - - HMMPfam_wnt,HMMSmart_WNT1 GOSR2 9570 genome.wustl.edu 37 17 45008567 45008567 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_054022.2 +1 reviewed p.A66D 1.000 130 0% 74 47.3% 26 34.6% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_V-SNARE LRRC37A4P 55073 genome.wustl.edu 37 17 45127741 45127741 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000309965 +1 known p.N136 0.001 197 0% 102 23.5% 10 20% - - - NULL CDC27 996 genome.wustl.edu 37 17 45221335 45221335 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114091.1 -1 reviewed p.V368I 1.000 71 0% 45 55.6% 27 55.5% possibly_damaging(0.925) tolerated(0.44) neutral(0.386) superfamily_TPR-like ITGB3 3690 genome.wustl.edu 37 17 45363782 45363782 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000212.2 +1 reviewed p.V257 1.000 39 0% 38 42.1% 2 0% - - - HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like ITGB3 3690 genome.wustl.edu 37 17 45364441 45364441 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000212.2 +1 reviewed p.K261 0.999 44 0% 25 48% 2 50% - - - HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like C17orf57 124989 genome.wustl.edu 37 17 45412709 45412709 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152347.3 +1 provisional p.E60* 0.062 177 0% 74 37.8% 2 50% - - - NULL C17orf57 124989 genome.wustl.edu 37 17 45507192 45507192 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152347.3 +1 provisional p.I835V 0.893 273 0% 188 34.6% 0 - benign(0.067) tolerated(0.23) neutral(0.046) superfamily_EF-hand NPEPPS 9520 genome.wustl.edu 37 17 45623286 45623286 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006310.3 +1 reviewed p.A89 0.630 414 0% 274 33.2% 18 33.3% - - - HMMPfam_Peptidase_M1,superfamily_SSF63737 NPEPPS 9520 genome.wustl.edu 37 17 45660159 45660159 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006310.3 +1 reviewed p.A198T 1.000 453 0% 190 26.3% 15 46.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Peptidase_M1,superfamily_SSF63737 TBKBP1 9755 genome.wustl.edu 37 17 45776070 45776070 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014726.2 +1 validated p.A188V 0.252 25 0% 17 35.3% 12 8.3% unknown(0) tolerated(1) - NULL SP2 6668 genome.wustl.edu 37 17 45993744 45993744 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003110.5 +1 reviewed p.A103T 0.040 49 0% 42 23.8% 14 35.7% benign(0) tolerated(1) - NULL PRR15L 79170 genome.wustl.edu 37 17 46030450 46030450 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024320.2 -1 provisional p.F51V 1.000 117 0% 105 40% 15 26.6% possibly_damaging(0.8) deleterious(0.04) deleterious(0.650) NULL NFE2L1 4779 genome.wustl.edu 37 17 46128928 46128928 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003204.2 +1 validated p.G150S 0.997 39 0% 30 30% 33 36.3% benign(0) tolerated(0.58) neutral(0.005) NULL MIR1203 100302211 genome.wustl.edu 37 17 46233825 46233825 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000408812 -1 known NULL 1.000 34 0% 27 40.7% 0 - - - - - CALCOCO2 10241 genome.wustl.edu 37 17 46939646 46939646 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005831.3 +1 reviewed p.E385* 1.000 428 0% 214 50% 38 44.7% - - - HMMPfam_CALCOCO1 ZNF652 22834 genome.wustl.edu 37 17 47394450 47394450 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145365.1 -1 validated p.R213H 1.000 256 0% 146 43.8% 3 66.6% possibly_damaging(0.812) deleterious(0.01) deleterious(0.711) NULL PHB 5245 genome.wustl.edu 37 17 47482415 47482415 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002634.2 -1 reviewed p.R253H 1.000 6 0.000 17 0.471 404 50.2% possibly_damaging(0.838) deleterious(0.02) deleterious(0.703) NULL LOC100131693 100131693 genome.wustl.edu 37 17 47502026 47502026 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001726582.1 -1 model p.P87S 1.000 351 0% 220 42.7% 25 0% - - - HMMPfam_IF4E,superfamily_Translation initiation factor eIF4e LOC100131693 100131693 genome.wustl.edu 37 17 47502271 47502271 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001726582.1 -1 model p.E5A 1.000 204 0% 115 39.1% 0 - - - - HMMPfam_IF4E,superfamily_Translation initiation factor eIF4e KAT7 11143 genome.wustl.edu 37 17 47904077 47904077 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007067.3 +1 provisional p.V550 1.000 108 0% 65 30.8% 22 50% - - - HMMPfam_MOZ_SAS,superfamily_Acyl-CoA N-acyltransferases (Nat) DLX3 1747 genome.wustl.edu 37 17 48069150 48069150 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005220.2 -1 reviewed p.P199S 1.000 98 0% 113 41.6% 0 - probably_damaging(0.994) tolerated(0.15) deleterious(0.693) NULL COL1A1 1277 genome.wustl.edu 37 17 48269365 48269365 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000088.3 -1 reviewed p.G668 1.000 16 0% 17 64.7% 314 3.1% - - - HMMPfam_Collagen COL1A1 1277 genome.wustl.edu 37 17 48271396 48271396 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000088.3 -1 reviewed p.A559T 1.000 31 0% 36 41.7% 324 2.1% unknown(0) tolerated(0.17) - HMMPfam_Collagen EME1 146956 genome.wustl.edu 37 17 48453429 48453429 + Missense_Mutation SNP C C T rs184924405 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152463.2 +1 reviewed p.L260F 1.000 23 0% 26 38.5% 9 44.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ERCC4 EME1 146956 genome.wustl.edu 37 17 48456907 48456907 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152463.2 +1 reviewed p.A442V 1.000 29 0% 24 45.8% 8 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ERCC4 RSAD1 55316 genome.wustl.edu 37 17 48557243 48557243 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018346.1 +1 provisional p.V91A 1.000 94 1.1% 88 38.6% 16 37.5% possibly_damaging(0.571) deleterious(0) deleterious(0.640) HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 LOC100288474 100288474 genome.wustl.edu 37 17 48562315 48562315 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343568.1 -1 model p.R12K 0.001 15 0% 16 50% 43 25.5% - - - NULL MYCBPAP 84073 genome.wustl.edu 37 17 48593967 48593967 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032133.4 +1 validated p.P81H 0.998 81 0% 46 28.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL LOC100288505 100288505 genome.wustl.edu 37 17 48614334 48614334 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343569.1 -1 model p.P395S 0.999 21 0.000 9 0.667 42 45.2% - - - NULL CACNA1G 8913 genome.wustl.edu 37 17 48683574 48683574 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198397.1 +1 validated p.P1538S 0.000 8 0.000 11 0.364 0 - unknown(0) - - NULL ABCC3 8714 genome.wustl.edu 37 17 48736637 48736637 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000502426 +1 known p.G257* 0.024 19 0% 18 55.6% 6 33.3% - - - NULL ABCC3 8714 genome.wustl.edu 37 17 48746590 48746590 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003786.3 +1 reviewed p.G676E 1.000 20 0% 29 41.4% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC3 8714 genome.wustl.edu 37 17 48750847 48750847 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003786.3 +1 reviewed p.T809 0.000 17 5.9% 17 64.7% 9 55.5% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC3 8714 genome.wustl.edu 37 17 48762138 48762138 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003786.3 +1 reviewed p.D1394 0.946 20 0% 14 28.6% 24 58.3% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF2B 84643 genome.wustl.edu 37 17 51900950 51900950 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032559.4 +1 validated p.E186K 0.950 21 0% 12 33.3% 0 - possibly_damaging(0.722) deleterious(0.04) deleterious(0.611) superfamily_P-loop containing nucleoside triphosphate hydrolases ANKFN1 162282 genome.wustl.edu 37 17 54554865 54554865 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153228.2 +1 validated p.H600R 1.000 171 0% 53 18.9% 0 - possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) NULL AKAP1 8165 genome.wustl.edu 37 17 55183250 55183250 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003488.3 +1 reviewed p.S142L 0.000 88 0% 58 44.8% 45 46.6% benign(0) deleterious(0) neutral(0.445) NULL CUEDC1 404093 genome.wustl.edu 37 17 55946494 55946494 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017949.1 -1 provisional p.H310R 1.000 35 0% 27 22.2% 73 54.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL OR4D2 124538 genome.wustl.edu 37 17 56247836 56247836 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004707.3 +1 provisional p.G274S 0.996 53 0% 49 32.7% 0 - benign(0) tolerated(0.09) neutral(0.296) HMMPfam_7tm_1,superfamily_SSF81321 EPX 8288 genome.wustl.edu 37 17 56271399 56271399 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000502.4 +1 reviewed p.S180 0.191 5 0.000 11 0.455 0 - - - - HMMPfam_An_peroxidase,superfamily_Peroxidase_super MKS1 54903 genome.wustl.edu 37 17 56295998 56295998 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017777.3 -1 reviewed p.R58M 0.659 69 0% 61 39.3% 16 25% benign(0.296) tolerated(0.08) neutral(0.391) NULL LPO 4025 genome.wustl.edu 37 17 56327801 56327801 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006151.2 +1 reviewed p.V200A 0.000 89 0% 63 49.2% 0 - benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_An_peroxidase,superfamily_Peroxidase_super MPO 4353 genome.wustl.edu 37 17 56355398 56355398 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000250.1 -1 reviewed p.A332T 0.981 36 0% 44 43.2% 0 - benign(0.418) tolerated(0.26) neutral(0.170) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases MPO 4353 genome.wustl.edu 37 17 56357220 56357220 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000250.1 -1 reviewed p.R135Q 0.000 16 0% 16 31.2% 0 - benign(0.01) tolerated(0.53) neutral(0.008) NULL MPO 4353 genome.wustl.edu 37 17 56357783 56357783 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000250.1 -1 reviewed p.S64 0.219 20 0% 13 46.2% 0 - - - - NULL SUPT4H1 6827 genome.wustl.edu 37 17 56424919 56424919 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003168.1 -1 provisional p.D68G 1.000 51 0% 33 21.2% 81 28.3% benign(0.358) tolerated(0.19) neutral(0.163) HMMPfam_Spt4,superfamily_RNA polymerase subunits RNF43 54894 genome.wustl.edu 37 17 56440757 56440757 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017763.4 -1 validated p.P154L 1.000 70 0% 57 52.6% 6 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TEX14 56155 genome.wustl.edu 37 17 56634381 56634381 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198393.2 -1 reviewed p.L1489 1.000 258 0% 115 41.7% 0 - - - - NULL TRIM37 4591 genome.wustl.edu 37 17 57094720 57094720 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005207.2 -1 reviewed p.R775* 1.000 389 0% 184 23.9% 6 33.3% - - - NULL MIR301A 407027 genome.wustl.edu 37 17 57228573 57228573 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000385261 -1 known NULL 1.000 167 0% 72 26.4% 0 - - - - - SKA2 348235 genome.wustl.edu 37 17 57232441 57232441 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001100595.1 -1 validated p.A2T 0.142 63 0% 60 38.3% 4 0% unknown(0) - - NULL PRR11 55771 genome.wustl.edu 37 17 57262418 57262418 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018304.2 +1 validated p.V44 0.000 141 0% 70 35.7% 12 50% - - - NULL CLTC 1213 genome.wustl.edu 37 17 57733336 57733336 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004859.3 +1 reviewed p.T306I 1.000 231 0% 113 46% 76 43.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Clathrin_propel,superfamily_Clathrin heavy-chain terminal domain CLTC 1213 genome.wustl.edu 37 17 57743475 57743475 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004859.3 +1 reviewed p.V552 0.635 371 0% 91 31.9% 84 51.1% - - - HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat CLTC 1213 genome.wustl.edu 37 17 57751101 57751101 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004859.3 +1 reviewed p.L796I 1.000 232 0% 61 47.5% 46 28.2% benign(0.007) tolerated(0.15) neutral(0.241) HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat CLTC 1213 genome.wustl.edu 37 17 57768068 57768068 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004859.3 +1 reviewed p.V1633 1.000 380 0% 137 39.4% 230 34.7% - - - NULL HEATR6 63897 genome.wustl.edu 37 17 58144976 58144976 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022070.4 -1 validated p.L353M 0.000 147 0% 123 37.4% 11 63.6% unknown(0) deleterious(0.04) - NULL USP32 84669 genome.wustl.edu 37 17 58282844 58282844 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032582.3 -1 validated p.P1071 0.997 244 0% 124 37.1% 9 66.6% - - - HMMPfam_UCH,superfamily_SSF54001 C17orf64 124773 genome.wustl.edu 37 17 58506891 58506891 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181707.2 +1 validated p.P200S 0.190 14 0% 21 38.1% 0 - benign(0) tolerated(1) - NULL PPM1D 8493 genome.wustl.edu 37 17 58740668 58740668 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003620.2 +1 reviewed p.E525* 1.000 84 0% 58 34.5% 12 33.3% - - - NULL TBX4 9496 genome.wustl.edu 37 17 59560723 59560723 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018488.2 +1 reviewed p.R495H 0.971 50 0% 56 48.2% 0 - possibly_damaging(0.774) deleterious(0.01) deleterious(0.694) NULL NACA2 342538 genome.wustl.edu 37 17 59668286 59668286 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199290.3 -1 validated p.L86I 0.996 373 0.3% 235 41.3% 0 - benign(0.133) deleterious(0.01) neutral(0.417) HMMPfam_NAC BRIP1 83990 genome.wustl.edu 37 17 59761118 59761118 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032043.1 -1 reviewed p.E1097* 0.506 407 0% 200 43.5% 7 71.4% - - - NULL INTS2 57508 genome.wustl.edu 37 17 59947098 59947098 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020748.2 -1 validated p.Q1018H 1.000 116 0% 63 34.9% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL INTS2 57508 genome.wustl.edu 37 17 59962294 59962294 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020748.2 -1 validated p.R694Q 1.000 330 0% 137 40.1% 5 80% benign(0.009) tolerated(0.96) neutral(0.001) NULL INTS2 57508 genome.wustl.edu 37 17 59975078 59975078 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020748.2 -1 validated p.M452V 0.999 348 0% 139 10.1% 2 0% benign(0.001) tolerated(0.34) neutral(0.023) NULL INTS2 57508 genome.wustl.edu 37 17 59988976 59988976 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020748.2 -1 validated p.V295L 1.000 302 0% 168 38.7% 7 28.5% benign(0.29) tolerated(0.7) neutral(0.091) NULL INTS2 57508 genome.wustl.edu 37 17 59996851 59996851 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020748.2 -1 validated p.V195I 1.000 167 0% 74 43.2% 0 - benign(0.002) tolerated(0.52) neutral(0.009) NULL MED13 9969 genome.wustl.edu 37 17 60088584 60088584 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005121.2 -1 reviewed p.L432F 1.000 268 0% 111 37.8% 13 53.8% benign(0) tolerated(0.29) neutral(0.029) NULL ENSG00000188755 0 genome.wustl.edu 37 17 60349343 60349343 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000339120 -1 known p.R69W 0.939 66 0% 64 60.9% 0 - benign(0.104) deleterious(0) neutral(0.453) superfamily_RabGAP_TBC TLK2 11011 genome.wustl.edu 37 17 60629676 60629676 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006852.3 +1 validated p.S182N 1.000 189 0% 85 38.8% 10 40% possibly_damaging(0.898) deleterious(0.05) deleterious(0.700) NULL TLK2 11011 genome.wustl.edu 37 17 60637440 60637440 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006852.3 +1 validated p.R262* 1.000 399 0% 151 39.7% 8 25% - - - NULL LOC100289012 100289012 genome.wustl.edu 37 17 60743391 60743391 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343575.1 -1 model p.S315 0.000 11 0% 19 47.4% 0 - - - - NULL MRC2 9902 genome.wustl.edu 37 17 60753892 60753892 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006039.3 +1 validated p.G612R 1.000 23 0% 22 36.4% 20 55% benign(0.347) tolerated(0.27) neutral(0.144) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like MRC2 9902 genome.wustl.edu 37 17 60769698 60769698 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006039.3 +1 validated p.I1442 0.000 5 0.000 15 0.333 61 24.5% - - - NULL TANC2 26115 genome.wustl.edu 37 17 61345221 61345221 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025185.3 +1 validated p.Q308 0.996 52 0% 21 19% 4 50% - - - NULL LOC342541 342541 genome.wustl.edu 37 17 61549409 61549409 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_292596.4 +1 model p.K154E 0.978 17 0% 13 53.8% 2 0% - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like MAP3K3 4215 genome.wustl.edu 37 17 61766203 61766203 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203351.1 +1 reviewed p.R309H 1.000 36 0% 47 46.8% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL STRADA 92335 genome.wustl.edu 37 17 61781922 61781922 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003787.2 -1 reviewed p.N293 0.556 2 0.000 4 1.000 18 33.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PSMC5 5705 genome.wustl.edu 37 17 61907804 61907804 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002805.4 +1 reviewed p.I165 0.964 88 0% 57 45.6% 184 42.3% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CSH1 1442 genome.wustl.edu 37 17 61972738 61972738 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022640.2 -1 reviewed p.A184V 0.000 50 0% 37 43.2% 0 - benign(0.145) deleterious(0) neutral(0.457) NULL SCN4A 6329 genome.wustl.edu 37 17 62034786 62034786 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000334.4 -1 reviewed p.T704 0.999 46 0% 49 55.1% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN4A 6329 genome.wustl.edu 37 17 62049829 62049829 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000334.4 -1 reviewed p.T92I 1.000 44 0% 44 31.8% 0 - benign(0.189) deleterious(0.02) neutral(0.401) superfamily_Voltage-gated potassium channels ICAM2 3384 genome.wustl.edu 37 17 62082590 62082590 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000873.3 -1 reviewed p.L69 0.000 79 0% 70 38.6% 8 50% - - - HMMPfam_ICAM_N,superfamily_Immunoglobulin ERN1 2081 genome.wustl.edu 37 17 62133038 62133038 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001433.3 -1 reviewed p.G557* 0.096 39 0% 21 52.4% 4 25% - - - superfamily_Protein kinase-like (PK-like) ERN1 2081 genome.wustl.edu 37 17 62133166 62133166 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001433.3 -1 reviewed p.S514Y 0.003 16 0% 11 36.4% 6 66.6% benign(0.063) deleterious(0.04) neutral(0.353) NULL TEX2 55852 genome.wustl.edu 37 17 62228280 62228280 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018469.3 -1 validated p.R1068Q 1.000 308 0% 195 15.9% 16 12.5% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL TEX2 55852 genome.wustl.edu 37 17 62248512 62248512 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018469.3 -1 validated p.G880 0.006 96 0% 74 35.1% 15 53.3% - - - HMMPfam_DUF2404 TEX2 55852 genome.wustl.edu 37 17 62271118 62271118 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018469.3 -1 validated p.K659N 0.440 98 0% 51 41.2% 9 66.6% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMSmart_PH POLG2 11232 genome.wustl.edu 37 17 62492922 62492922 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007215.3 -1 reviewed p.E55 0.941 28 0% 22 40.9% 7 57.1% - - - NULL SMURF2 64750 genome.wustl.edu 37 17 62543722 62543722 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022739.3 -1 validated p.L689 0.987 116 0% 106 39.6% 32 28.1% - - - HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT SMURF2 64750 genome.wustl.edu 37 17 62543726 62543726 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022739.3 -1 validated p.A688G 1.000 120 0% 112 53.6% 30 63.3% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT SMURF2 64750 genome.wustl.edu 37 17 62579636 62579636 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022739.3 -1 validated p.G171E 1.000 457 0% 226 45.6% 14 42.8% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_WW,HMMSmart_WW,superfamily_WW_Rsp5_WWP APOH 350 genome.wustl.edu 37 17 64216726 64216726 + Missense_Mutation SNP C C A rs112244796 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000042.2 -1 reviewed p.D184Y 1.000 241 0.4% 123 50.4% 0 - possibly_damaging(0.947) deleterious(0.02) deleterious(0.774) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CACNG5 27091 genome.wustl.edu 37 17 64880864 64880864 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014404.1 +1 reviewed p.D219G 0.002 50 0% 40 25% 0 - unknown(0) tolerated(0.61) - NULL HELZ 9931 genome.wustl.edu 37 17 65104791 65104791 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014877.3 -1 validated p.R1514Q 0.255 88 0% 67 50.7% 20 55% unknown(0) deleterious(0) - NULL HELZ 9931 genome.wustl.edu 37 17 65132273 65132273 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014877.3 -1 validated p.R999 1.000 161 0% 51 47.1% 9 22.2% - - - superfamily_SSF52540 PSMD12 5718 genome.wustl.edu 37 17 65337163 65337163 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002816.3 -1 reviewed p.S389 0.976 179 0% 105 41.9% 35 45.7% - - - HMMPfam_PCI,HMMSmart_PINT,superfamily_SSF46785 PSMD12 5718 genome.wustl.edu 37 17 65344741 65344741 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002816.3 -1 reviewed p.L145 1.000 331 0% 227 43.6% 31 45.1% - - - NULL PITPNC1 26207 genome.wustl.edu 37 17 65688752 65688752 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012417.2 +1 reviewed p.I249 0.525 169 0.6% 93 46.2% 49 44.8% - - - NULL NOL11 25926 genome.wustl.edu 37 17 65722751 65722751 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015462.3 +1 provisional p.L280 0.000 81 0% 51 49% 17 70.5% - - - NULL BPTF 2186 genome.wustl.edu 37 17 65889741 65889741 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182641.3 +1 reviewed p.G771R 1.000 154 0% 79 46.8% 6 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BPTF 2186 genome.wustl.edu 37 17 65941526 65941526 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000321866 +1 known p.V32A 0.998 33 0% 30 20% 34 8.8% unknown(0) deleterious(0) - NULL BPTF 2186 genome.wustl.edu 37 17 65941840 65941840 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182641.3 +1 reviewed p.S2339F 1.000 190 0% 138 42.8% 29 27.5% probably_damaging(0.965) tolerated(0.06) deleterious(0.730) NULL BPTF 2186 genome.wustl.edu 37 17 65942403 65942403 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182641.3 +1 reviewed p.L2527I 1.000 24 0% 10 80% 9 33.3% probably_damaging(0.996) tolerated(0.2) deleterious(0.511) NULL BPTF 2186 genome.wustl.edu 37 17 65944273 65944273 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182641.3 +1 reviewed p.R2593W 1.000 232 0% 113 54.9% 19 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BPTF 2186 genome.wustl.edu 37 17 65960371 65960371 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182641.3 +1 reviewed p.R2769C 1.000 128 0% 89 50.6% 13 61.5% possibly_damaging(0.871) deleterious(0) deleterious(0.783) HMMSmart_PHD,superfamily_FYVE_PHD_ZnF,PatternScan_ZF_PHD_1,HMMPfam_PHD KPNA2 3838 genome.wustl.edu 37 17 66039322 66039322 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002266.2 +1 reviewed p.R258Q 0.999 218 0% 171 45.6% 204 44.6% benign(0.054) tolerated(0.4) neutral(0.019) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat SLC16A6 9120 genome.wustl.edu 37 17 66268842 66268842 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004694.4 -1 validated p.R148H 1.000 179 0% 92 44.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ARSG 22901 genome.wustl.edu 37 17 66343007 66343007 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000448504 +1 known p.R20Q 0.000 10 0.000 7 0.571 0 - benign(0.032) - - NULL ARSG 22901 genome.wustl.edu 37 17 66343289 66343289 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014960.3 +1 validated p.G144S 0.992 281 0% 184 45.7% 3 0% probably_damaging(0.966) tolerated(0.32) neutral(0.432) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSG 22901 genome.wustl.edu 37 17 66381255 66381255 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014960.3 +1 validated p.A345S 0.904 38 0% 31 35.5% 0 - benign(0.218) tolerated(0.07) neutral(0.341) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSG 22901 genome.wustl.edu 37 17 66397520 66397520 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014960.3 +1 validated p.S411I 0.993 78 0% 40 52.5% 1 0% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core PRKAR1A 5573 genome.wustl.edu 37 17 66511583 66511583 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002734.3 +1 reviewed p.L15F 1.000 62 0% 46 45.7% 40 32.5% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL ABCA8 10351 genome.wustl.edu 37 17 66872637 66872637 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007168.2 -1 reviewed p.S1405L 0.126 69 0% 47 42.6% 0 - probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA8 10351 genome.wustl.edu 37 17 66925366 66925366 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007168.2 -1 reviewed p.A317T 0.002 25 0% 16 50% 0 - benign(0.045) tolerated(0.21) neutral(0.046) NULL ABCA6 23460 genome.wustl.edu 37 17 67119451 67119451 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080284.2 -1 reviewed p.I455 0.000 336 0.3% 73 45.2% 0 - - - - NULL ABCA6 23460 genome.wustl.edu 37 17 67132350 67132350 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080284.2 -1 reviewed p.E115K 0.000 404 0% 134 42.5% 0 - benign(0.001) tolerated(0.21) neutral(0.044) NULL ABCA10 10349 genome.wustl.edu 37 17 67215735 67215735 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080282.3 -1 reviewed p.K161Q 0.000 157 0% 58 46.6% 0 - benign(0.058) tolerated(0.13) neutral(0.256) NULL ABCA5 23461 genome.wustl.edu 37 17 67247938 67247938 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018672.3 -1 reviewed p.E1495D 1.000 155 0% 59 62.7% 6 83.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA5 23461 genome.wustl.edu 37 17 67252412 67252412 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018672.3 -1 reviewed p.T1248 0.001 336 0% 115 38.3% 6 83.3% - - - NULL ABCA5 23461 genome.wustl.edu 37 17 67300881 67300881 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018672.3 -1 reviewed p.A287S 1.000 194 0% 64 40.6% 1 100% benign(0) tolerated(1) - NULL ABCA5 23461 genome.wustl.edu 37 17 67310457 67310457 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018672.3 -1 reviewed p.Q34* 1.000 278 0% 77 42.9% 0 - - - - NULL MAP2K6 5608 genome.wustl.edu 37 17 67515455 67515455 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002758.3 +1 reviewed p.R83Q 1.000 63 0% 55 29.1% 17 17.6% probably_damaging(0.962) tolerated(0.34) neutral(0.428) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KCNJ2 3759 genome.wustl.edu 37 17 68171214 68171214 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000891.2 +1 reviewed p.V12I 1.000 26 0% 20 95% 0 - possibly_damaging(0.866) deleterious(0.01) deleterious(0.741) HMMPfam_IRK_N SDK2 54549 genome.wustl.edu 37 17 71334930 71334930 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144952.1 -1 provisional p.S2105 1.000 103 0% 115 39.1% 3 0% - - - NULL SDK2 54549 genome.wustl.edu 37 17 71431698 71431698 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000416616 -1 known p.R267W 0.467 6 0.000 14 0.357 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DNAI2 64446 genome.wustl.edu 37 17 72306193 72306193 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023036.4 +1 reviewed p.D462A 1.000 13 0.000 5 0.800 0 - benign(0.124) tolerated(0.28) neutral(0.042) HMMSmart_SM00320,superfamily_WD40 repeat-like LOC100289576 100289576 genome.wustl.edu 37 17 72440074 72440074 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343581.1 -1 model p.R48Q 0.000 48 0% 58 43.1% 0 - - - - NULL CD300E 342510 genome.wustl.edu 37 17 72613293 72613293 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181449.1 -1 provisional p.D118N 0.005 47 0% 23 47.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409 CD300E 342510 genome.wustl.edu 37 17 72613493 72613493 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181449.1 -1 provisional p.R51Q 0.014 67 0% 52 46.2% 0 - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CD300LF 146722 genome.wustl.edu 37 17 72691347 72691347 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139018.3 -1 validated p.L254S 0.001 39 0% 26 61.5% 0 - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL OTOP2 92736 genome.wustl.edu 37 17 72926474 72926474 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178160.2 +1 validated p.I248 0.780 19 5.3% 24 45.8% 0 - - - - NULL OTOP2 92736 genome.wustl.edu 37 17 72929580 72929580 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178160.2 +1 validated p.F543 0.996 32 0% 35 45.7% 0 - - - - HMMPfam_DUF270 OTOP3 347741 genome.wustl.edu 37 17 72939429 72939429 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178233.1 +1 provisional p.N226Y 1.000 69 0% 52 40.4% 0 - possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) NULL NUP85 79902 genome.wustl.edu 37 17 73228951 73228951 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024844.3 +1 reviewed p.S468G 1.000 80 0% 80 45% 56 39.2% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_Nucleopor_Nup85 MIF4GD 57409 genome.wustl.edu 37 17 73265484 73265484 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020679.2 -1 validated p.R43M 0.004 107 0% 79 41.8% 2 50% benign(0) deleterious(0) neutral(0.445) HMMPfam_MIF4G LLGL2 3993 genome.wustl.edu 37 17 73567105 73567105 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031803.1 +1 reviewed p.I700 0.092 5 0.000 9 0.556 48 45.8% - - - NULL RECQL5 9400 genome.wustl.edu 37 17 73627084 73627084 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004259.5 -1 validated p.D519Y 0.932 42 0% 29 37.9% 9 66.6% benign(0.367) deleterious(0.02) deleterious(0.499) NULL ITGB4 3691 genome.wustl.edu 37 17 73753305 73753305 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000213.3 +1 reviewed p.R1748H 0.013 14 0% 20 25% 88 45.4% benign(0) tolerated(1) - NULL ACOX1 51 genome.wustl.edu 37 17 73945864 73945864 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004035.6 -1 reviewed p.W471* 1.000 96 0% 60 40% 18 5.5% - - - NULL EVPL 2125 genome.wustl.edu 37 17 74004806 74004806 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001988.2 -1 validated p.E1494K 0.127 66 0% 68 32.4% 19 47.3% possibly_damaging(0.452) tolerated(0.95) neutral(0.148) NULL EXOC7 23265 genome.wustl.edu 37 17 74080636 74080636 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145297.2 -1 validated p.A631T 0.002 109 0.9% 88 40.9% 35 22.8% benign(0) tolerated(0.64) neutral(0.003) HMMPfam_Exo70 RNF157 114804 genome.wustl.edu 37 17 74155423 74155423 + Missense_Mutation SNP G G T rs187993129 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052916.2 -1 validated p.L433I 0.998 30 0% 24 54.2% 0 - benign(0.005) tolerated(0.34) neutral(0.023) NULL ENSG00000207169 0 genome.wustl.edu 37 17 74333483 74333483 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000384440 +1 novel NULL 0.017 336 0% 103 28.2% 0 - - - - - UBE2O 63893 genome.wustl.edu 37 17 74387194 74387194 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022066.3 -1 validated p.R1237W 1.000 50 0% 41 41.5% 40 65% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UBE2O 63893 genome.wustl.edu 37 17 74395996 74395996 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022066.3 -1 validated p.R388C 0.992 44 0% 33 51.5% 16 43.7% probably_damaging(0.988) deleterious(0.05) deleterious(0.783) NULL UBE2O 63893 genome.wustl.edu 37 17 74397108 74397108 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022066.3 -1 validated p.R293Q 0.998 12 0% 21 42.9% 25 48% probably_damaging(0.994) tolerated(0.28) deleterious(0.484) NULL RHBDF2 79651 genome.wustl.edu 37 17 74467978 74467978 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024599.3 -1 validated p.N770D 1.000 32 0% 33 18.2% 39 10.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Rhomboid ST6GALNAC1 55808 genome.wustl.edu 37 17 74621490 74621490 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018414.3 -1 validated p.V575 0.995 78 0% 67 40.3% 7 57.1% - - - HMMPfam_Glyco_transf_29 MXRA7 439921 genome.wustl.edu 37 17 74681240 74681240 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008528.1 -1 validated p.G138 0.726 108 0% 117 33.3% 46 58.6% - - - NULL JMJD6 23210 genome.wustl.edu 37 17 74721549 74721549 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081461.1 -1 reviewed p.R173M 1.000 76 0% 69 49.3% 13 15.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00558,superfamily_Clavaminate synthase-like MGAT5B 146664 genome.wustl.edu 37 17 74942507 74942507 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198955.1 +1 validated p.R642Q 1.000 12 0% 15 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MGAT5B 146664 genome.wustl.edu 37 17 74944027 74944027 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198955.1 +1 validated p.P689H 0.002 7 0.000 10 0.800 0 - possibly_damaging(0.781) deleterious(0.01) deleterious(0.698) NULL TMC8 147138 genome.wustl.edu 37 17 76134663 76134663 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152468.4 +1 reviewed p.S558Y 0.999 27 0% 23 52.2% 2 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL PGS1 9489 genome.wustl.edu 37 17 76420263 76420263 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000335081 +1 known p.V281M 0.042 14 0% 20 40% 15 60% - - - NULL DNAH17 8632 genome.wustl.edu 37 17 76492030 76492030 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000389840 -1 known p.G1930S 1.000 108 0% 87 36.8% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH17 8632 genome.wustl.edu 37 17 76521126 76521126 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000389840 -1 known p.R1273C 0.023 30 0% 26 42.3% 0 - benign(0.045) tolerated(0.09) neutral(0.299) HMMPfam_DHC_N2 DNAH17 8632 genome.wustl.edu 37 17 76556997 76556997 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000389840 -1 known p.A619V 1.000 15 0% 19 36.8% 0 - benign(0.01) tolerated(0.59) neutral(0.005) HMMPfam_DHC_N1 DNAH17 8632 genome.wustl.edu 37 17 76562711 76562711 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000389840 -1 known p.I518 0.003 89 0% 55 43.6% 0 - - - - HMMPfam_DHC_N1 USP36 57602 genome.wustl.edu 37 17 76798596 76798596 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025090.3 -1 validated p.G944 0.000 8 0.000 17 0.529 18 22.2% - - - NULL USP36 57602 genome.wustl.edu 37 17 76809946 76809946 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025090.3 -1 validated p.G392* 1.000 80 0% 53 52.8% 12 16.6% - - - HMMPfam_UCH,superfamily_SSF54001 USP36 57602 genome.wustl.edu 37 17 76817087 76817087 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025090.3 -1 validated p.A272T 0.999 21 0% 22 36.4% 17 23.5% benign(0.149) tolerated(0.27) neutral(0.046) HMMPfam_UCH,superfamily_SSF54001 LGALS3BP 3959 genome.wustl.edu 37 17 76967788 76967788 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005567.3 -1 reviewed p.A543V 0.001 15 0% 19 36.8% 158 19.6% benign(0) tolerated(1) - NULL RBFOX3 146713 genome.wustl.edu 37 17 77102825 77102825 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001082575.1 -1 validated p.S90P 0.995 25 0% 30 33.3% 1 0% benign(0) deleterious(0.04) neutral(0.349) NULL CBX8 57332 genome.wustl.edu 37 17 77768908 77768908 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020649.2 -1 validated p.D232 0.925 11 0% 15 46.7% 10 60% - - - NULL SLC26A11 284129 genome.wustl.edu 37 17 78196512 78196512 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173626.3 +1 reviewed p.R98Q 1.000 77 0% 68 54.4% 14 57.1% possibly_damaging(0.741) deleterious(0.01) deleterious(0.677) PatternScan_SLC26A RNF213 57674 genome.wustl.edu 37 17 78247195 78247195 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020954.2 +1 validated p.V85I 0.000 35 0% 28 42.9% 2 0% unknown(0) tolerated(0.48) - NULL RNF213 57674 genome.wustl.edu 37 17 78268742 78268742 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020954.2 +1 validated p.Q565 0.343 48 0% 45 42.2% 9 11.1% - - - NULL RNF213 57674 genome.wustl.edu 37 17 78316973 78316973 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508628 +1 known p.M2011V 0.000 95 0% 68 44.1% 3 100% benign(0.004) tolerated(0.09) neutral(0.296) NULL RNF213 57674 genome.wustl.edu 37 17 78327411 78327411 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508628 +1 known p.E3508A 0.396 62 0% 43 51.2% 17 23.5% benign(0.004) deleterious(0.01) neutral(0.406) NULL RNF213 57674 genome.wustl.edu 37 17 78332206 78332206 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508628 +1 known p.A3661T 0.656 97 0% 68 19.1% 14 28.5% benign(0) tolerated(0.4) neutral(0.016) NULL RNF213 57674 genome.wustl.edu 37 17 78345690 78345690 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508628 +1 known p.D4148Y 0.004 389 0% 171 38.6% 5 20% possibly_damaging(0.644) deleterious(0.01) deleterious(0.631) NULL RNF213 57674 genome.wustl.edu 37 17 78355365 78355365 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508628 +1 known p.K4606E 1.000 69 0% 45 24.4% 12 16.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RNF213 57674 genome.wustl.edu 37 17 78359417 78359417 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508628 +1 known p.T4845 0.646 69 0% 44 47.7% 26 30.7% - - - NULL RNF213 57674 genome.wustl.edu 37 17 78363145 78363145 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508628 +1 known p.D5058G 0.011 65 1.5% 44 36.4% 23 26% benign(0.01) tolerated(0.11) neutral(0.272) NULL ENSG00000173818 0 genome.wustl.edu 37 17 78409990 78409990 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000397538 +1 known p.R64W 0.045 63 0% 82 35.4% 21 38% - - - NULL NPTX1 4884 genome.wustl.edu 37 17 78449360 78449360 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002522.3 -1 reviewed p.I201 0.997 19 0% 16 50% 4 50% - - - NULL NPTX1 4884 genome.wustl.edu 37 17 78449474 78449474 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002522.3 -1 reviewed p.K163N 1.000 23 0% 16 25% 0 - probably_damaging(0.956) tolerated(0.1) deleterious(0.686) NULL RPTOR 57521 genome.wustl.edu 37 17 78938085 78938085 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020761.2 +1 reviewed p.N1321 1.000 18 0% 36 52.8% 23 52.1% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CHMP6 79643 genome.wustl.edu 37 17 78970842 78970842 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024591.4 +1 validated p.D128 0.818 23 0% 32 37.5% 23 21.7% - - - HMMPfam_Snf7 BAIAP2 10458 genome.wustl.edu 37 17 79031759 79031759 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017451.2 +1 reviewed p.K70T 1.000 12 0% 15 53.3% 17 35.2% possibly_damaging(0.841) tolerated(0.17) neutral(0.381) HMMPfam_IMD BAIAP2 10458 genome.wustl.edu 37 17 79059300 79059300 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000435091 +1 known p.C43 0.000 15 0% 24 54.2% 0 - - - - HMMPfam_IMD MIR1250 100302229 genome.wustl.edu 37 17 79107022 79107022 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000408098 -1 known NULL 0.006 12 0% 17 41.2% 0 - - - - - SLC38A10 124565 genome.wustl.edu 37 17 79226430 79226430 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037984.1 -1 validated p.D504N 0.998 14 0% 15 33.3% 75 36% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL LINC00482 284185 genome.wustl.edu 37 17 79278782 79278782 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178519.2 -1 predicted p.R128Q 0.001 14 0% 19 42.1% 0 - unknown(0) - - NULL BAHCC1 57597 genome.wustl.edu 37 17 79405436 79405436 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080519.2 +1 inferred p.L78I 1.000 38 0% 40 37.5% 0 - - - - NULL HGS 9146 genome.wustl.edu 37 17 79663463 79663463 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004712.3 +1 provisional p.E490D 1.000 10 0% 11 90.9% 74 58.1% benign(0.382) tolerated(0.11) neutral(0.394) NULL SLC25A10 1468 genome.wustl.edu 37 17 79683845 79683845 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012140.3 +1 provisional p.Y141 0.916 18 0% 26 34.6% 84 36.9% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ARHGDIA 396 genome.wustl.edu 37 17 79827052 79827052 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004309.4 -1 validated p.K138E 1.000 22 0% 22 50% 411 40.6% possibly_damaging(0.473) tolerated(0.08) neutral(0.456) HMMPfam_Rho_GDI,superfamily_E set domains SIRT7 51547 genome.wustl.edu 37 17 79870453 79870453 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016538.1 -1 reviewed p.R348C 0.998 27 0% 39 41% 13 23% benign(0.048) tolerated(0.19) neutral(0.053) NULL PYCR1 5831 genome.wustl.edu 37 17 79893354 79893354 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006907.2 -1 reviewed p.T59 0.105 30 0% 35 57.1% 280 51.4% - - - HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains GPS1 2873 genome.wustl.edu 37 17 80014227 80014227 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_212492.1 +1 reviewed p.S372F 1.000 44 0% 42 40.5% 196 45.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PCI FASN 2194 genome.wustl.edu 37 17 80042435 80042435 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004104.4 -1 reviewed p.R1574 0.190 5 0.000 22 0.682 106 50% - - - superfamily_GroES-like FASN 2194 genome.wustl.edu 37 17 80053328 80053328 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004104.4 -1 reviewed p.R50W 0.990 10 0% 12 58.3% 40 45% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ketoacyl-synt,superfamily_Thiolase-like CCDC57 284001 genome.wustl.edu 37 17 80086462 80086462 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000419322 -1 known p.C209R 0.000 46 0% 49 22.4% 12 16.6% - - - NULL CSNK1D 1453 genome.wustl.edu 37 17 80209365 80209365 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001893.3 -1 reviewed p.R259C 1.000 69 0% 60 30% 89 30.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CD7 924 genome.wustl.edu 37 17 80273270 80273270 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006137.6 -1 reviewed p.A217V 0.000 22 0% 24 54.2% 21 4.7% possibly_damaging(0.86) tolerated(0.1) deleterious(0.619) NULL SECTM1 6398 genome.wustl.edu 37 17 80282696 80282696 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003004.2 -1 reviewed p.C55 0.301 42 0% 36 38.9% 22 68.1% - - - NULL NARF 26502 genome.wustl.edu 37 17 80422166 80422166 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012336.3 +1 reviewed p.G38* 0.998 105 0% 69 44.9% 65 30.7% - - - NULL NARF 26502 genome.wustl.edu 37 17 80436788 80436788 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012336.3 +1 reviewed p.R211S 0.883 28 0% 24 29.2% 35 22.8% benign(0.402) tolerated(0.47) neutral(0.140) HMMPfam_Fe_hyd_lg_C,superfamily_Fe-only hydrogenase FOXK2 3607 genome.wustl.edu 37 17 80529646 80529646 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004514.3 +1 reviewed p.A270V 1.000 69 0% 44 36.4% 22 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Fork_head,HMMSmart_SM00339,PatternScan_FORK_HEAD_1,superfamily_""Winged helix"" DNA-binding domain" FOXK2 3607 genome.wustl.edu 37 17 80559219 80559219 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000335241 +1 known p.R317C 0.000 33 0% 25 48% 60 50% probably_damaging(0.985) - - HMMPfam_Fork_head,HMMSmart_FH USP14 9097 genome.wustl.edu 37 18 178938 178938 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005151.3 +1 reviewed p.M67I 1.000 55 0% 22 40.9% 27 59.2% benign(0.002) tolerated(0.48) neutral(0.011) HMMSmart_UBQ,superfamily_SSF54236 COLEC12 81035 genome.wustl.edu 37 18 321740 321740 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130386.2 -1 validated p.L711 0.324 228 0.4% 130 48.5% 2 50% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 COLEC12 81035 genome.wustl.edu 37 18 347255 347255 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130386.2 -1 validated p.R123C 0.960 183 0% 108 91.7% 1 0% unknown(0) - - NULL ENOSF1 55556 genome.wustl.edu 37 18 690588 690588 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_202758.2 -1 validated p.S214 0.953 49 0% 23 52.2% 45 44.4% - - - superfamily_SSF51604 YES1 7525 genome.wustl.edu 37 18 743000 743000 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005433.3 -1 reviewed p.K326N 0.985 375 0% 148 54.1% 28 32.1% possibly_damaging(0.933) tolerated(0.06) deleterious(0.702) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like METTL4 64863 genome.wustl.edu 37 18 2566950 2566950 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022840.3 -1 validated p.R89Q 1.000 220 0% 150 40.7% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NDC80 10403 genome.wustl.edu 37 18 2590030 2590030 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006101.2 +1 validated p.S295L 0.999 136 0% 63 41.3% 18 33.3% benign(0.389) tolerated(0.13) neutral(0.377) NULL SMCHD1 23347 genome.wustl.edu 37 18 2700764 2700764 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015295.2 +1 validated p.G499W 1.000 249 0% 108 45.4% 7 42.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL LPIN2 9663 genome.wustl.edu 37 18 2925345 2925345 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014646.2 -1 reviewed p.S605 0.017 53 0% 47 48.9% 20 70% - - - NULL MYOM1 8736 genome.wustl.edu 37 18 3067331 3067331 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003803.3 -1 reviewed p.V1663M 1.000 36 0% 26 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYOM1 8736 genome.wustl.edu 37 18 3067448 3067448 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003803.3 -1 reviewed p.E1624K 1.000 47 0% 41 48.8% 1 0% possibly_damaging(0.898) tolerated(0.12) deleterious(0.615) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYOM1 8736 genome.wustl.edu 37 18 3119951 3119951 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003803.3 -1 reviewed p.A1012T 0.998 43 0% 30 30% 2 0% benign(0.064) tolerated(0.17) neutral(0.063) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MYOM1 8736 genome.wustl.edu 37 18 3154948 3154948 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003803.3 -1 reviewed p.D547A 1.000 140 0% 62 46.8% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MYOM1 8736 genome.wustl.edu 37 18 3215058 3215058 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003803.3 -1 reviewed p.R55H 1.000 13 0% 14 35.7% 0 - benign(0.265) tolerated(0.15) neutral(0.269) NULL TGIF1 7050 genome.wustl.edu 37 18 3457449 3457449 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170695.2 +1 reviewed p.I239M 1.000 62 0% 50 48% 91 49.4% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_Homeodomain-like ZFP161 7541 genome.wustl.edu 37 18 5291429 5291429 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143823.1 -1 validated p.A260T 0.000 65 0% 58 53.4% 11 36.3% benign(0.001) tolerated(0.87) neutral(0.001) NULL ZFP161 7541 genome.wustl.edu 37 18 5291968 5291968 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143823.1 -1 validated p.F80C 1.000 210 0% 94 45.7% 4 50% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB EPB41L3 23136 genome.wustl.edu 37 18 5396298 5396298 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012307.2 -1 provisional p.G959C 1.000 279 0% 183 41.5% 1 0% possibly_damaging(0.686) deleterious(0) deleterious(0.690) NULL EPB41L3 23136 genome.wustl.edu 37 18 5428400 5428400 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012307.2 -1 provisional p.R326Q 1.000 169 0% 114 36% 2 0% possibly_damaging(0.811) deleterious(0.04) deleterious(0.654) HMMPfam_FERM_C,superfamily_PH domain-like EPB41L3 23136 genome.wustl.edu 37 18 5433984 5433984 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012307.2 -1 provisional p.D248N 1.000 204 0% 151 52.3% 1 0% benign(0.02) tolerated(0.35) neutral(0.022) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 TMEM200C 645369 genome.wustl.edu 37 18 5891825 5891825 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080209.1 -1 provisional p.G80R 0.000 25 0% 29 55.2% 0 - possibly_damaging(0.462) deleterious(0.04) deleterious(0.500) HMMPfam_DUF2371 TMEM200C 645369 genome.wustl.edu 37 18 5891897 5891897 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080209.1 -1 provisional p.A56T 1.000 41 0% 60 40% 1 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_DUF2371 LAMA1 284217 genome.wustl.edu 37 18 6982510 6982510 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005559.2 -1 validated p.S1959I 0.006 64 0% 55 49.1% 2 100% possibly_damaging(0.91) tolerated(0.12) deleterious(0.623) superfamily_Concanavalin A-like lectins/glucanases LAMA1 284217 genome.wustl.edu 37 18 7040194 7040194 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005559.2 -1 validated p.G435* 1.000 200 0% 99 14.1% 1 0% - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin LAMA1 284217 genome.wustl.edu 37 18 7043389 7043389 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005559.2 -1 validated p.N331T 1.000 204 0% 132 42.4% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Laminin_EGF,HMMSmart_SM00180,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin LRRC30 339291 genome.wustl.edu 37 18 7231661 7231661 + Silent SNP C C T rs191436455 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105581.1 +1 provisional p.F175 0.000 34 0% 19 36.8% 0 - - - - superfamily_SSF52058 PTPRM 5797 genome.wustl.edu 37 18 8376502 8376502 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105244.1 +1 reviewed p.I1123 1.000 78 0% 53 45.3% 8 12.5% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRM 5797 genome.wustl.edu 37 18 8378374 8378374 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105244.1 +1 reviewed p.P1192S 1.000 109 0% 87 32.2% 5 40% probably_damaging(0.999) tolerated(0.36) deleterious(0.510) superfamily_(Phosphotyrosine protein) phosphatases II ANKRD12 23253 genome.wustl.edu 37 18 9256726 9256726 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015208.3 +1 validated p.K1154T 1.000 61 0% 23 69.6% 4 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Ankyrin repeat PPP4R1 9989 genome.wustl.edu 37 18 9577165 9577165 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042388.1 -1 validated p.L315M 1.000 283 0% 118 49.2% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat RAB31 11031 genome.wustl.edu 37 18 9859257 9859257 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006868.3 +1 validated p.N175H 1.000 75 0% 63 42.9% 12 0% benign(0.374) tolerated(0.12) neutral(0.380) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases VAPA 9218 genome.wustl.edu 37 18 9936179 9936179 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003574.5 +1 reviewed p.A102D 1.000 365 0% 159 18.2% 87 19.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Motile_Sperm,superfamily_PapD-like VAPA 9218 genome.wustl.edu 37 18 9950415 9950415 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003574.5 +1 reviewed p.A192 1.000 165 0% 78 44.9% 124 47.5% - - - NULL PIEZO2 63895 genome.wustl.edu 37 18 10680295 10680295 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000503781 -1 known p.S399Y 1.000 467 0% 178 42.1% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL ENSG00000175388 0 genome.wustl.edu 37 18 10759509 10759509 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000383408 -1 known p.I506S 0.987 126 0% 75 46.7% 0 - benign(0.428) tolerated(0.39) neutral(0.155) NULL ENSG00000175388 0 genome.wustl.edu 37 18 10763065 10763065 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000383408 -1 known p.S256Y 1.000 81 0% 63 39.7% 0 - benign(0.303) deleterious(0.04) neutral(0.443) NULL ENSG00000168738 0 genome.wustl.edu 37 18 10871307 10871307 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000302079 -1 known p.K18Q 1.000 197 0% 72 52.8% 0 - probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL LOC729602 729602 genome.wustl.edu 37 18 11625764 11625764 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344140.1 -1 model p.R61M 0.008 207 0% 128 47.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_NPIP GNAL 2774 genome.wustl.edu 37 18 11872284 11872284 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182978.2 +1 validated p.S350Y 1.000 155 0% 88 45.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_G-alpha,superfamily_SSF52540 CIDEA 1149 genome.wustl.edu 37 18 12262855 12262855 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198289.2 +1 reviewed p.R58* 0.000 35 0% 28 25% 0 - - - - superfamily_SSF54277 TUBB6 84617 genome.wustl.edu 37 18 12325692 12325692 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032525.1 +1 provisional p.A302T 1.000 22 0% 28 39.3% 52 30.7% probably_damaging(0.975) deleterious(0) deleterious(0.861) superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C SPIRE1 56907 genome.wustl.edu 37 18 12506495 12506495 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128626.1 -1 validated p.Y318C 1.000 202 0% 105 12.4% 17 29.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SPIRE1 56907 genome.wustl.edu 37 18 12506637 12506637 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128626.1 -1 validated p.R271* 0.996 164 1.2% 86 44.2% 11 0% - - - NULL CEP192 55125 genome.wustl.edu 37 18 13015346 13015346 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000506447 +1 known p.G180E 0.026 372 0% 118 49.2% 2 50% possibly_damaging(0.938) tolerated(0.51) neutral(0.393) NULL CEP192 55125 genome.wustl.edu 37 18 13059101 13059101 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032142.3 +1 validated p.R830 1.000 114 0% 60 53.3% 5 40% - - - NULL C18orf1 753 genome.wustl.edu 37 18 13438380 13438380 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181481.3 +1 validated p.N60D 1.000 53 0% 37 27% 3 66.6% benign(0.011) tolerated(0.44) neutral(0.013) NULL FAM210A 125228 genome.wustl.edu 37 18 13681662 13681662 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098801.1 -1 validated p.P139S 1.000 205 0% 96 41.7% 13 23% probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_DUF1279 RNMT 8731 genome.wustl.edu 37 18 13737011 13737011 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003799.1 +1 provisional p.E186* 1.000 325 0.3% 155 38.7% 4 50% - - - HMMPfam_Pox_MCEL,superfamily_S-adenosyl-L-methionine-dependent methyltransferases MC5R 4161 genome.wustl.edu 37 18 13826284 13826284 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005913.1 +1 provisional p.G174S 1.000 64 0% 57 49.1% 0 - possibly_damaging(0.747) tolerated(0.98) neutral(0.274) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MC5R 4161 genome.wustl.edu 37 18 13826634 13826634 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005913.1 +1 provisional p.M290I 0.559 148 0% 149 43.6% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF519 162655 genome.wustl.edu 37 18 14105779 14105779 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145287.3 -1 validated p.G254* 0.004 156 0% 54 44.4% 1 0% - - - NULL NF1P5 4768 genome.wustl.edu 37 18 14156148 14156148 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418350 -1 known p.S117Y 0.040 17 0.000 8 0.750 0 - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14752901 14752901 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145029.1 +1 validated p.Y134D 0.000 189 0% 104 33.7% 0 - benign(0.006) tolerated(0.13) neutral(0.253) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD30B 374860 genome.wustl.edu 37 18 14777983 14777983 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145029.1 +1 validated e10-1 0.013 261 0% 119 37% 0 - - - - - ANKRD30B 374860 genome.wustl.edu 37 18 14797816 14797816 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145029.1 +1 validated p.K664N 0.018 588 0% 215 43.3% 0 - probably_damaging(0.976) tolerated(0.05) deleterious(0.763) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14852113 14852113 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145029.1 +1 validated p.T1271 0.550 165 0% 80 46.3% 0 - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14852378 14852378 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145029.1 +1 validated p.E1360* 0.585 48 0% 18 38.9% 0 - - - - NULL ROCK1 6093 genome.wustl.edu 37 18 18564314 18564314 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005406.2 -1 reviewed p.T829 0.998 435 0% 174 46.6% 11 45.4% - - - NULL GREB1L 80000 genome.wustl.edu 37 18 19076502 19076502 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142966.1 +1 provisional p.C1078 1.000 44 0% 47 40.4% 2 50% - - - NULL ESCO1 114799 genome.wustl.edu 37 18 19116045 19116045 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052911.2 -1 validated p.D715 1.000 302 0% 112 45.5% 8 50% - - - NULL ESCO1 114799 genome.wustl.edu 37 18 19153714 19153714 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052911.2 -1 validated p.R364H 1.000 541 0.2% 232 38.4% 9 22.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ABHD3 171586 genome.wustl.edu 37 18 19239234 19239234 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138340.4 -1 reviewed p.V247I 1.000 117 0% 67 44.8% 20 55% benign(0.103) tolerated(0.1) neutral(0.294) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases CTAGE1 64693 genome.wustl.edu 37 18 19996832 19996832 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172241.2 -1 validated p.K315E 0.633 253 0% 118 40.7% 0 - possibly_damaging(0.532) tolerated(0.24) neutral(0.217) NULL RBBP8 5932 genome.wustl.edu 37 18 20573581 20573581 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002894.2 +1 reviewed p.E597D 0.686 87 0% 50 40% 21 33.3% benign(0.056) deleterious(0.01) neutral(0.409) NULL TMEM241 85019 genome.wustl.edu 37 18 20877985 20877985 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032933.4 -1 validated p.R293W 0.127 47 0% 52 28.8% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Multidrug resistance efflux transporter EmrE RIOK3 8780 genome.wustl.edu 37 18 21042949 21042949 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003831.3 +1 reviewed p.N29H 1.000 222 0% 124 42.7% 8 50% benign(0.075) tolerated(0.12) neutral(0.266) NULL RIOK3 8780 genome.wustl.edu 37 18 21046199 21046199 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003831.3 +1 reviewed p.R216* 1.000 192 0% 93 41.9% 10 50% - - - NULL RIOK3 8780 genome.wustl.edu 37 18 21059320 21059320 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003831.3 +1 reviewed p.R462* 0.995 231 0% 116 45.7% 7 14.2% - - - HMMSmart_SM00090,superfamily_Protein kinase-like (PK-like),HMMPfam_RIO1 C18orf8 29919 genome.wustl.edu 37 18 21104436 21104436 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013326.3 +1 validated p.S350 0.716 298 0% 162 53.1% 23 34.7% - - - NULL LAMA3 3909 genome.wustl.edu 37 18 21327917 21327917 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198129.1 +1 reviewed p.V153G 1.000 292 0% 134 39.6% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Galactose-binding domain-like LAMA3 3909 genome.wustl.edu 37 18 21395184 21395184 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198129.1 +1 reviewed p.G641* 1.000 208 0% 123 42.3% 1 0% - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin LAMA3 3909 genome.wustl.edu 37 18 21413944 21413944 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198129.1 +1 reviewed p.C992 1.000 70 0% 42 47.6% 0 - - - - NULL LAMA3 3909 genome.wustl.edu 37 18 21444783 21444783 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198129.1 +1 reviewed p.A1540V 0.059 184 0% 90 48.9% 1 100% benign(0) tolerated(0.54) neutral(0.007) HMMPfam_Laminin_B,HMMSmart_SM00281 TTC39C 125488 genome.wustl.edu 37 18 21698106 21698106 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135993.1 +1 validated p.E366* 1.000 246 0% 115 54.8% 3 0% - - - HMMPfam_Deme6,superfamily_TPR-like CABYR 26256 genome.wustl.edu 37 18 21736349 21736349 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012189.2 +1 reviewed p.S295F 0.461 94 0% 66 45.5% 7 42.8% unknown(0) deleterious(0) - NULL CABYR 26256 genome.wustl.edu 37 18 21739844 21739844 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000399496 +1 known p.P317H 1.000 175 0% 89 41.6% 29 31% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL HRH4 59340 genome.wustl.edu 37 18 22040841 22040841 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021624.3 +1 reviewed p.S50I 1.000 548 0% 195 37.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HRH4 59340 genome.wustl.edu 37 18 22056924 22056924 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021624.3 +1 reviewed p.A191T 0.466 283 0% 153 38.6% 0 - benign(0.023) tolerated(0.92) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF521 25925 genome.wustl.edu 37 18 22804328 22804328 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015461.2 -1 validated p.S1185N 1.000 114 0% 53 49.1% 37 40.5% possibly_damaging(0.84) tolerated(0.18) neutral(0.378) NULL AQP4 361 genome.wustl.edu 37 18 24440789 24440789 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001650.4 -1 reviewed p.P214S 1.000 155 0% 82 41.5% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_MIP,superfamily_Aquaporin-like CHST9 83539 genome.wustl.edu 37 18 24497206 24497206 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031422.4 -1 validated p.G117W 0.000 507 0% 126 15.1% 4 0% benign(0.159) deleterious(0.01) neutral(0.420) NULL CDH2 1000 genome.wustl.edu 37 18 25568547 25568547 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001792.3 -1 reviewed p.R561Q 1.000 523 0% 193 43% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC3 1825 genome.wustl.edu 37 18 28588256 28588256 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001941.3 -1 reviewed p.N500T 0.504 266 0% 86 45.3% 1 100% benign(0) tolerated(1) - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC3 1825 genome.wustl.edu 37 18 28588469 28588469 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001941.3 -1 reviewed p.R429H 0.000 230 0% 85 41.2% 2 50% benign(0.016) tolerated(0.09) neutral(0.297) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC2 1824 genome.wustl.edu 37 18 28650745 28650745 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024422.3 -1 reviewed p.A733T 0.997 521 0.2% 170 38.8% 57 52.6% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL DSC2 1824 genome.wustl.edu 37 18 28666645 28666645 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024422.3 -1 reviewed p.R279H 0.007 216 0% 95 50.5% 40 45% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28710559 28710559 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024421.2 -1 reviewed p.R868Q 0.135 253 0% 101 43.6% 0 - benign(0.131) tolerated(0.37) neutral(0.030) NULL DSC1 1823 genome.wustl.edu 37 18 28723697 28723697 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024421.2 -1 reviewed p.G333S 1.000 292 0.3% 121 38% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG3 1830 genome.wustl.edu 37 18 29041235 29041235 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001944.2 +1 reviewed p.R287* 0.708 309 0% 86 43% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin DSG3 1830 genome.wustl.edu 37 18 29049058 29049058 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001944.2 +1 reviewed p.S548L 0.124 36 0% 22 54.5% 1 100% possibly_damaging(0.889) deleterious(0.01) deleterious(0.755) superfamily_Cadherin DSG3 1830 genome.wustl.edu 37 18 29056053 29056053 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001944.2 +1 reviewed p.V944M 0.000 138 0% 115 40.9% 1 100% possibly_damaging(0.508) tolerated(0.24) neutral(0.208) NULL B4GALT6 9331 genome.wustl.edu 37 18 29207071 29207071 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004775.3 -1 reviewed p.E264* 1.000 215 0% 111 42.3% 2 100% - - - HMMPfam_Galactosyl_T_2,superfamily_SSF53448 MCART2 147407 genome.wustl.edu 37 18 29340254 29340254 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001034172.2 -1 validated p.A124V 0.997 155 1.3% 120 45.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr MEP1B 4225 genome.wustl.edu 37 18 29784213 29784213 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005925.2 +1 validated p.R146Q 1.000 193 0% 121 43% 0 - possibly_damaging(0.945) tolerated(0.35) neutral(0.410) "HMMPfam_Astacin,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" MEP1B 4225 genome.wustl.edu 37 18 29790487 29790487 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005925.2 +1 validated p.D315N 0.008 371 0% 170 36.5% 0 - benign(0) tolerated(1) - HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1 FAM59A 64762 genome.wustl.edu 37 18 29848728 29848728 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022751.1 -1 provisional p.I578 0.225 57 0% 38 36.8% 4 50% - - - NULL KLHL14 57565 genome.wustl.edu 37 18 30257271 30257271 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020805.1 -1 provisional p.M537I 1.000 115 0% 21 38.1% 18 38.8% possibly_damaging(0.612) tolerated(0.09) deleterious(0.508) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central C18orf34 374864 genome.wustl.edu 37 18 30825319 30825319 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105528.1 -1 validated p.L495I 0.005 688 0% 150 41.3% 0 - probably_damaging(0.981) tolerated(0.29) neutral(0.455) NULL C18orf34 374864 genome.wustl.edu 37 18 30926304 30926304 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105528.1 -1 validated p.L177I 0.998 228 0% 120 50% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL ASXL3 80816 genome.wustl.edu 37 18 31314301 31314301 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030632.1 +1 provisional p.R335Q 1.000 306 0% 67 38.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ASXL3 80816 genome.wustl.edu 37 18 31318887 31318887 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030632.1 +1 provisional p.D507Y 1.000 154 0% 51 51% 0 - possibly_damaging(0.887) deleterious(0) deleterious(0.791) NULL NOL4 8715 genome.wustl.edu 37 18 31538275 31538275 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003787.3 -1 validated p.H388 0.995 181 0% 56 33.9% 0 - - - - NULL NOL4 8715 genome.wustl.edu 37 18 31599388 31599388 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003787.3 -1 validated p.S317L 0.998 306 0% 108 45.4% 0 - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL DTNA 1837 genome.wustl.edu 37 18 32374065 32374065 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001390.4 +1 reviewed p.D71 1.000 131 0% 52 44.2% 0 - - - - HMMPfam_efhand_1,superfamily_EF-hand ZNF396 252884 genome.wustl.edu 37 18 32954062 32954062 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145756.2 -1 validated p.G65 0.644 44 0% 47 46.8% 4 75% - - - HMMPfam_SCAN,HMMSmart_SM00431 GALNT1 2589 genome.wustl.edu 37 18 33234725 33234725 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020474.3 +1 reviewed p.K33N 1.000 275 0% 77 40.3% 26 65.3% benign(0.001) tolerated(0.14) neutral(0.249) NULL GALNT1 2589 genome.wustl.edu 37 18 33271052 33271052 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020474.3 +1 reviewed p.Y352C 1.000 196 0% 64 32.8% 62 43.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotide-diphospho-sugar transferases RPRD1A 55197 genome.wustl.edu 37 18 33613743 33613743 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018170.3 -1 provisional p.S70I 1.000 439 0% 166 33.1% 36 52.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00582,HMMPfam_DUF618,superfamily_ENTH/VHS domain SLC39A6 25800 genome.wustl.edu 37 18 33689570 33689570 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012319.3 -1 validated p.R752C 1.000 175 0% 60 60% 24 0% possibly_damaging(0.795) deleterious(0.04) deleterious(0.647) NULL SLC39A6 25800 genome.wustl.edu 37 18 33696637 33696637 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012319.3 -1 validated p.R489* 1.000 516 0% 262 39.7% 48 4.1% - - - HMMPfam_Zip ELP2 55250 genome.wustl.edu 37 18 33740924 33740924 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018255.1 +1 provisional p.V573A 1.000 327 0% 130 17.7% 47 19.1% possibly_damaging(0.744) deleterious(0.01) deleterious(0.679) HMMSmart_SM00320,superfamily_WD40 repeat-like FHOD3 80206 genome.wustl.edu 37 18 34174854 34174854 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025135.2 +1 validated p.T237 0.569 79 0% 53 45.3% 3 100% - - - NULL FHOD3 80206 genome.wustl.edu 37 18 34289113 34289113 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025135.2 +1 validated p.G589 0.188 28 0% 13 46.2% 1 100% - - - NULL FHOD3 80206 genome.wustl.edu 37 18 34289125 34289125 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025135.2 +1 validated p.V593 0.000 22 0% 12 41.7% 4 75% - - - NULL KIAA1328 57536 genome.wustl.edu 37 18 34740278 34740278 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020776.1 +1 validated p.H450N 0.999 130 0% 60 40% 3 33.3% benign(0.121) tolerated(0.61) neutral(0.013) NULL CELF4 56853 genome.wustl.edu 37 18 34833784 34833784 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020180.3 -1 reviewed p.R484H 1.000 9 0.000 17 0.412 2 50% benign(0.004) deleterious(0.04) neutral(0.349) NULL CELF4 56853 genome.wustl.edu 37 18 34853091 34853091 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020180.3 -1 reviewed p.V279 0.996 10 0% 14 28.6% 0 - - - - NULL PIK3C3 5289 genome.wustl.edu 37 18 39617750 39617750 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002647.2 +1 validated p.Q645R 1.000 305 0% 96 40.6% 15 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like,PatternScan_PI3_4_KINASE_1 EPG5 57724 genome.wustl.edu 37 18 43487983 43487983 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020964.2 -1 validated p.I1423 1.000 392 0% 127 37.8% 4 75% - - - NULL ATP5A1 498 genome.wustl.edu 37 18 43671784 43671784 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001937.1 -1 reviewed p.R58H 1.000 113 0% 71 15.5% 437 12.1% possibly_damaging(0.525) deleterious(0) deleterious(0.621) superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase HAUS1 115106 genome.wustl.edu 37 18 43708098 43708098 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_026978.1 +1 validated NULL 0.909 349 0% 118 35.6% 39 41% - - - - LOXHD1 125336 genome.wustl.edu 37 18 44143112 44143112 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144612.6 -1 reviewed p.I560 1.000 61 0% 32 43.8% 0 - - - - HMMPfam_PLAT,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44236935 44236935 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441551 -1 known p.S1 0.999 60 0% 72 37.5% 0 - unknown(0) tolerated(0.22) - NULL ST8SIA5 29906 genome.wustl.edu 37 18 44260323 44260323 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013305.4 -1 reviewed p.P271 1.000 17 0% 17 41.2% 0 - - - - HMMPfam_Glyco_transf_29 TCEB3B 51224 genome.wustl.edu 37 18 44560359 44560359 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016427.2 -1 reviewed p.S426L 0.000 90 0% 63 39.7% 0 - possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) NULL KATNAL2 83473 genome.wustl.edu 37 18 44595943 44595943 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031303.2 +1 validated p.W255L 1.000 180 0% 50 42% 4 75% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 CTIF 9811 genome.wustl.edu 37 18 46238023 46238023 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142397.1 +1 validated p.A181T 0.885 78 0% 60 38.3% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTIF 9811 genome.wustl.edu 37 18 46385846 46385846 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142397.1 +1 validated p.I573 1.000 21 0% 11 36.4% 18 22.2% - - - HMMPfam_MIF4G,HMMSmart_MIF4G,superfamily_ARM-type_fold SMAD7 4092 genome.wustl.edu 37 18 46448093 46448093 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005904.2 -1 provisional p.V310 1.000 26 0% 30 36.7% 12 41.6% - - - HMMPfam_MH2,HMMSmart_DWB,superfamily_SMAD_FHA LIPG 9388 genome.wustl.edu 37 18 47107934 47107934 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006033.2 +1 reviewed p.R315C 1.000 57 0% 48 43.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases MYO5B 4645 genome.wustl.edu 37 18 47364001 47364001 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080467.2 -1 reviewed p.P1675H 1.000 82 0% 42 9.5% 15 13.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO5B 4645 genome.wustl.edu 37 18 47365602 47365602 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080467.2 -1 reviewed p.T1588 0.115 133 0% 67 47.8% 10 90% - - - NULL MYO5B 4645 genome.wustl.edu 37 18 47518752 47518752 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080467.2 -1 reviewed p.G221D 1.000 124 0% 64 14.1% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5B 4645 genome.wustl.edu 37 18 47518778 47518778 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080467.2 -1 reviewed p.T212 0.373 103 0% 58 44.8% 3 100% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC11 220136 genome.wustl.edu 37 18 47769289 47769289 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145020.3 -1 validated p.K398 0.997 387 0% 228 19.7% 0 - - - - NULL CCDC11 220136 genome.wustl.edu 37 18 47777148 47777148 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145020.3 -1 validated p.D326Y 0.999 387 0% 280 46.1% 0 - probably_damaging(0.99) tolerated(0.05) deleterious(0.787) NULL CCDC11 220136 genome.wustl.edu 37 18 47778123 47778123 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145020.3 -1 validated p.L169 0.003 113 0% 91 42.9% 1 100% - - - NULL MBD1 4152 genome.wustl.edu 37 18 47806314 47806314 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015846.3 -1 reviewed p.R17C 1.000 22 0% 29 27.6% 28 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain LOC100287130 100287130 genome.wustl.edu 37 18 47809005 47809005 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343599.1 +1 model p.V69M 0.996 14 0% 26 53.8% 189 32.8% - - - NULL CXXC1 30827 genome.wustl.edu 37 18 47813958 47813958 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101654.1 -1 validated p.M1R 0.977 44 0% 48 39.6% 24 20.8% benign(0.019) deleterious(0) neutral(0.446) NULL MRO 83876 genome.wustl.edu 37 18 48335756 48335756 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031939.3 -1 reviewed p.Q5 0.022 171 0% 103 57.3% 0 - - - - NULL ME2 4200 genome.wustl.edu 37 18 48452221 48452221 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002396.4 +1 reviewed p.T423A 1.000 108 0% 53 26.4% 28 35.7% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_Malic_M,superfamily_NAD(P)-bd DCC 1630 genome.wustl.edu 37 18 50432609 50432609 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005215.3 +1 reviewed p.Q203R 1.000 101 0% 40 50% 0 - benign(0.403) tolerated(0.52) neutral(0.138) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DCC 1630 genome.wustl.edu 37 18 50592491 50592491 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005215.3 +1 reviewed p.A406T 1.000 248 0% 82 40.2% 0 - possibly_damaging(0.897) deleterious(0.05) deleterious(0.700) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DCC 1630 genome.wustl.edu 37 18 50976939 50976939 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005215.3 +1 reviewed p.V1100A 1.000 86 0% 48 50% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) HMMPfam_Neogenin_C POLI 11201 genome.wustl.edu 37 18 51804084 51804084 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007195.2 +1 validated p.E140* 1.000 441 0% 148 38.5% 3 0% - - - HMMPfam_IMS,superfamily_DNA/RNA polymerases POLI 11201 genome.wustl.edu 37 18 51820532 51820532 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007195.2 +1 validated p.E640* 1.000 100 0% 31 41.9% 18 55.5% - - - NULL STARD6 147323 genome.wustl.edu 37 18 51863545 51863545 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139171.1 -1 provisional p.T73A 0.234 500 0% 271 40.2% 0 - benign(0.073) tolerated(0.45) neutral(0.017) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 TCF4 6925 genome.wustl.edu 37 18 53017619 53017619 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001083962.1 -1 reviewed p.R174* 1.000 316 0.6% 86 39.5% 7 14.2% - - - NULL WDR7 23335 genome.wustl.edu 37 18 54361938 54361938 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015285.2 +1 reviewed p.R352K 1.000 504 0% 195 43.1% 0 - benign(0.004) tolerated(0.25) neutral(0.037) superfamily_Prolyl oligopeptidase N-terminal domain WDR7 23335 genome.wustl.edu 37 18 54424066 54424066 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015285.2 +1 reviewed p.E748* 1.000 139 0% 69 53.6% 1 0% - - - NULL ST8SIA3 51046 genome.wustl.edu 37 18 55024271 55024271 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015879.2 +1 validated p.F144V 1.000 200 0% 116 44% 0 - benign(0.122) deleterious(0.02) neutral(0.393) HMMPfam_Glyco_transf_29 ST8SIA3 51046 genome.wustl.edu 37 18 55027345 55027345 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015879.2 +1 validated p.D327G 1.000 173 0% 91 40.7% 0 - benign(0.024) deleterious(0.01) neutral(0.407) HMMPfam_Glyco_transf_29 ONECUT2 9480 genome.wustl.edu 37 18 55143919 55143919 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000481727 +1 known p.L122F 0.914 18 0% 22 40.9% 1 0% - - - superfamily_Homeodomain-like FECH 2235 genome.wustl.edu 37 18 55238663 55238663 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012515.2 -1 reviewed p.G148S 1.000 84 0% 61 52.5% 31 51.6% benign(0.009) tolerated(0.66) neutral(0.003) HMMPfam_Ferrochelatase,superfamily_Chelatase NARS 4677 genome.wustl.edu 37 18 55276654 55276654 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004539.3 -1 validated p.L172I 0.803 192 0% 96 45.8% 144 53.4% benign(0) tolerated(0.12) neutral(0.261) HMMPfam_tRNA_anti,superfamily_Nucleic_acid_OB NEDD4L 23327 genome.wustl.edu 37 18 56010162 56010162 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144967.1 +1 validated p.R468W 0.997 102 0% 61 41% 22 36.3% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL NEDD4L 23327 genome.wustl.edu 37 18 56033295 56033295 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144967.1 +1 validated p.R633Q 1.000 402 0% 192 45.3% 10 20% probably_damaging(1) tolerated(0.2) deleterious(0.549) superfamily_Hect E3 ligase catalytic domain RAX 30062 genome.wustl.edu 37 18 56939701 56939701 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013435.2 -1 reviewed p.T145 0.469 31 0% 30 36.7% 2 0% - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like LMAN1 3998 genome.wustl.edu 37 18 57006090 57006090 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005570.3 -1 reviewed p.Q351* 1.000 284 0% 104 36.5% 35 8.5% - - - NULL LMAN1 3998 genome.wustl.edu 37 18 57016432 57016432 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005570.3 -1 reviewed p.D226Y 1.000 366 0% 144 44.4% 23 91.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl CCBE1 147372 genome.wustl.edu 37 18 57106989 57106989 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133459.3 -1 reviewed p.P279S 1.000 32 0% 25 48% 0 - probably_damaging(0.998) - - HMMPfam_Collagen CDH20 28316 genome.wustl.edu 37 18 59195238 59195238 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031891.2 +1 reviewed p.K352N 1.000 135 0% 75 42.7% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin RNF152 220441 genome.wustl.edu 37 18 59483687 59483687 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173557.2 -1 validated p.L4 0.810 5 0.000 6 0.667 8 37.5% - - - NULL PIGN 23556 genome.wustl.edu 37 18 59742036 59742036 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012327.5 -1 reviewed p.L865 0.637 234 0.4% 75 45.3% 10 50% - - - HMMPfam_PigN PIGN 23556 genome.wustl.edu 37 18 59774319 59774319 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012327.5 -1 reviewed e15-1 1.000 192 0% 61 26.2% 0 - - - - - PIGN 23556 genome.wustl.edu 37 18 59780478 59780478 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012327.5 -1 reviewed p.F441L 0.998 290 0% 89 39.3% 8 50% benign(0) tolerated(1) - HMMPfam_PigN PIGN 23556 genome.wustl.edu 37 18 59815502 59815502 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012327.5 -1 reviewed p.F207L 1.000 154 0% 51 35.3% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Alkaline_phosphatase_core KIAA1468 57614 genome.wustl.edu 37 18 59928878 59928878 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020854.3 +1 validated p.V779 1.000 146 0% 37 18.9% 11 0% - - - superfamily_ARM repeat ZCCHC2 54877 genome.wustl.edu 37 18 60207020 60207020 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017742.4 +1 validated p.R349Q 1.000 109 0% 72 45.8% 3 33.3% benign(0.131) deleterious(0.05) neutral(0.356) superfamily_PX ZCCHC2 54877 genome.wustl.edu 37 18 60242256 60242256 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017742.4 +1 validated p.A981V 0.998 38 0% 36 38.9% 8 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PHLPP1 23239 genome.wustl.edu 37 18 60646139 60646139 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194449.2 +1 validated p.N1031 0.746 21 0% 28 35.7% 23 73.9% - - - NULL PHLPP1 23239 genome.wustl.edu 37 18 60646314 60646314 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194449.2 +1 validated p.D1090N 0.999 16 0% 15 26.7% 23 47.8% benign(0.005) tolerated(0.19) neutral(0.050) NULL KDSR 2531 genome.wustl.edu 37 18 61002517 61002517 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002035.2 -1 reviewed p.V284 0.121 42 0% 40 30% 32 71.8% - - - superfamily_NAD(P)-binding Rossmann-fold domains KDSR 2531 genome.wustl.edu 37 18 61022495 61022495 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002035.2 -1 reviewed p.N120I 1.000 232 0% 139 51.1% 23 52.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains SERPINB4 6318 genome.wustl.edu 37 18 61305070 61305070 + Silent SNP G G A rs184695104 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000413673 -1 known p.S333L 0.000 210 0.5% 36 33.3% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB4 6318 genome.wustl.edu 37 18 61308226 61308226 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002974.2 -1 validated e4-1 1.000 441 0% 110 42.7% 0 - - - - - HMSD 284293 genome.wustl.edu 37 18 61627536 61627536 + Missense_Mutation SNP G G A rs141010043 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001123366.1 +1 validated p.D123N 0.000 124 0% 47 42.6% 0 - probably_damaging(0.974) tolerated(0.06) deleterious(0.738) NULL SERPINB8 5271 genome.wustl.edu 37 18 61654342 61654342 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002640.3 +1 validated p.V319M 0.998 87 0% 60 56.7% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CDH7 1005 genome.wustl.edu 37 18 63511227 63511227 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004361.2 +1 reviewed p.S387 0.010 129 0% 46 50% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like CDH19 28513 genome.wustl.edu 37 18 64172426 64172426 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021153.2 -1 reviewed p.E648* 1.000 124 0% 36 47.2% 0 - - - - HMMPfam_Cadherin_C RTTN 25914 genome.wustl.edu 37 18 67687988 67687988 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173630.3 -1 validated p.V2006M 0.000 137 0% 27 85.2% 5 80% benign(0.013) tolerated(0.16) neutral(0.060) superfamily_ARM repeat FAM69C 125704 genome.wustl.edu 37 18 72109206 72109206 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001044369.2 -1 validated p.R341H 0.348 75 0% 36 77.8% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL FAM69C 125704 genome.wustl.edu 37 18 72113983 72113983 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001044369.2 -1 validated p.P245L 0.040 38 0% 23 91.3% 0 - possibly_damaging(0.512) tolerated(0.09) neutral(0.468) NULL ZNF407 55628 genome.wustl.edu 37 18 72343003 72343003 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017757.2 +1 reviewed p.N10Y 0.002 84 0% 37 35.1% 1 0% possibly_damaging(0.821) deleterious(0) deleterious(0.755) NULL SALL3 27164 genome.wustl.edu 37 18 76754267 76754267 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_171999.2 +1 validated p.R759H 1.000 13 0% 14 35.7% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SALL3 27164 genome.wustl.edu 37 18 76757282 76757282 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_171999.2 +1 validated p.T1288M 1.000 19 0% 14 85.7% 0 - probably_damaging(0.973) tolerated(0.07) deleterious(0.734) NULL ATP9B 374868 genome.wustl.edu 37 18 77097282 77097282 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198531.3 +1 validated p.R706* 1.000 13 0% 10 100% 2 50% - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N C2CD4C 126567 genome.wustl.edu 37 19 407211 407211 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136263.1 -1 validated p.S384I 0.930 5 0.000 10 0.900 0 - possibly_damaging(0.931) deleterious(0.03) deleterious(0.742) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB HCN2 610 genome.wustl.edu 37 19 603927 603927 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001194.3 +1 validated p.R339H 1.000 8 0.000 9 0.444 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 POLRMT 5442 genome.wustl.edu 37 19 623481 623481 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005035.3 -1 reviewed p.T421 0.000 4 0.000 13 0.615 41 39% - - - superfamily_SSF56672 PTBP1 5725 genome.wustl.edu 37 19 804205 804205 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002819.4 +1 reviewed p.N95 1.000 33 0% 35 45.7% 256 43.3% - - - HMMSmart_RRM,superfamily_SSF54928 PTBP1 5725 genome.wustl.edu 37 19 810741 810741 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002819.4 +1 reviewed p.A530V 1.000 42 0% 27 25.9% 321 22.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 LPPR3 79948 genome.wustl.edu 37 19 814709 814709 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024888.1 -1 provisional p.A214T 1.000 4 0.000 17 0.706 0 - probably_damaging(0.997) tolerated(0.1) deleterious(0.752) HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase AZU1 566 genome.wustl.edu 37 19 830819 830819 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001700.3 +1 reviewed p.R158C 0.000 9 0.000 9 0.556 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MED16 10025 genome.wustl.edu 37 19 868892 868892 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000269814 -1 known p.A726V 1.000 19 0% 23 60.9% 60 58.3% unknown(0) deleterious(0) - NULL CNN2 1265 genome.wustl.edu 37 19 1031120 1031120 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004368.2 +1 reviewed p.I38 0.834 23 0% 14 50% 133 41.3% - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain ABCA7 10347 genome.wustl.edu 37 19 1043410 1043410 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019112.3 +1 reviewed p.L290M 0.970 13 0% 25 52% 16 43.7% probably_damaging(0.988) tolerated(0.21) deleterious(0.481) NULL ABCA7 10347 genome.wustl.edu 37 19 1044698 1044698 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019112.3 +1 reviewed p.H390 0.001 13 0% 15 53.3% 23 21.7% - - - NULL CIRBP 1153 genome.wustl.edu 37 19 1270880 1270880 + RNA SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_023312.1 +1 validated NULL 0.027 47 0% 44 29.5% 12 41.6% - - - - NDUFS7 374291 genome.wustl.edu 37 19 1389325 1389326 + Frame_Shift_Del DEL CT CT - rs66919466 byCluster;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000382445 +1 known p.L206fs 0.653:0.689 - - - - - - - - - NULL TCF3 6929 genome.wustl.edu 37 19 1615287 1615287 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003200.2 -1 validated p.R607* 1.000 9 0.000 15 0.267 90 41.1% - - - HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain ATP8B3 148229 genome.wustl.edu 37 19 1802601 1802601 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138813.2 -1 reviewed p.F316 0.997 58 0% 71 43.7% 5 0% - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81653 REXO1 57455 genome.wustl.edu 37 19 1816083 1816083 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000413153 -1 known p.R226C 0.998 12 0% 13 30.8% 65 38.4% - - - NULL REXO1 57455 genome.wustl.edu 37 19 1817244 1817244 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020695.3 -1 validated p.G1059R 0.986 30 0% 31 25.8% 44 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00479,superfamily_Ribonuclease H-like SCAMP4 113178 genome.wustl.edu 37 19 1918914 1918914 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_079834.2 +1 validated p.A107V 1.000 84 0% 66 39.4% 86 48.8% benign(0.3) tolerated(1) neutral(0.093) HMMPfam_SCAMP BTBD2 55643 genome.wustl.edu 37 19 1990752 1990752 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017797.3 -1 reviewed p.A252T 1.000 20 0% 39 51.3% 221 47.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_BACK MOB3A 126308 genome.wustl.edu 37 19 2076843 2076843 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130807.2 -1 validated p.F197 0.996 9 0.000 12 0.500 41 41.4% - - - HMMPfam_Mob1_phocein,superfamily_Mob1_phocein AP3D1 8943 genome.wustl.edu 37 19 2109110 2109110 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003938.5 -1 validated p.K1087N 1.000 52 0% 45 48.9% 117 76.9% unknown(0) tolerated(0.24) - HMMPfam_BLVR AP3D1 8943 genome.wustl.edu 37 19 2109871 2109871 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003938.5 -1 validated e27+1 1.000 15 0% 15 46.7% 11 100% - - - - AP3D1 8943 genome.wustl.edu 37 19 2115263 2115263 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003938.5 -1 validated p.I768 0.320 10 0% 25 40% 72 9.7% - - - HMMPfam_BLVR AP3D1 8943 genome.wustl.edu 37 19 2121758 2121758 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003938.5 -1 validated p.R359Q 1.000 22 0% 21 47.6% 77 80.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat AP3D1 8943 genome.wustl.edu 37 19 2123840 2123840 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003938.5 -1 validated p.A299T 1.000 60 0% 33 12.1% 66 7.5% possibly_damaging(0.95) tolerated(0.08) deleterious(0.694) HMMPfam_Adaptin_N,superfamily_ARM repeat DOT1L 84444 genome.wustl.edu 37 19 2193746 2193746 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032482.2 +1 validated p.G184 0.938 56 0% 55 25.5% 26 23% - - - HMMPfam_DOT1,superfamily_SSF53335 DOT1L 84444 genome.wustl.edu 37 19 2211152 2211152 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032482.2 +1 validated p.R469Q 0.994 11 0% 19 47.4% 27 40.7% benign(0.169) tolerated(0.53) neutral(0.023) NULL LMNB2 84823 genome.wustl.edu 37 19 2431783 2431783 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032737.2 -1 reviewed p.E550K 0.996 16 0% 27 48.1% 49 75.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IF_tail,superfamily_SSF74853 DIRAS1 148252 genome.wustl.edu 37 19 2717401 2717401 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145173.3 -1 validated p.A135V 0.996 9 0.000 15 0.400 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 SGTA 6449 genome.wustl.edu 37 19 2765248 2765248 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003021.3 -1 reviewed p.A110T 0.998 75 0% 81 30.9% 69 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 ZNF57 126295 genome.wustl.edu 37 19 2916112 2916112 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173480.2 +1 validated p.S56Y 0.142 473 0% 300 47.3% 2 50% possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMSmart_SM00349 FZR1 51343 genome.wustl.edu 37 19 3525880 3525880 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136198.1 +1 validated p.R28 0.420 9 0.000 9 0.444 52 42.3% - - - NULL FZR1 51343 genome.wustl.edu 37 19 3530794 3530794 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136198.1 +1 validated p.T220M 1.000 32 0% 29 48.3% 40 52.5% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMSmart_SM00320,superfamily_WD40 repeat-like C19orf29 58509 genome.wustl.edu 37 19 3624141 3624141 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080543.1 -1 validated p.R63W 0.000 2 0.000 4 1.000 14 57.1% unknown(0) deleterious(0.02) - NULL APBA3 9546 genome.wustl.edu 37 19 3759747 3759747 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004886.3 -1 reviewed p.P172 0.465 5 0.000 9 0.667 12 75% - - - NULL MATK 4145 genome.wustl.edu 37 19 3789303 3789303 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002378.3 -1 reviewed p.R15W 0.008 38 0% 53 47.2% 0 - unknown(0) deleterious(0.02) - NULL ATCAY 85300 genome.wustl.edu 37 19 3910806 3910806 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033064.4 +1 reviewed p.R262Q 1.000 57 0% 66 37.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00516,superfamily_CRAL/TRIO domain MAP2K2 5605 genome.wustl.edu 37 19 4097337 4097337 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030662.3 -1 reviewed p.H308 0.998 25 0% 26 46.2% 192 47.9% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAP2K2 5605 genome.wustl.edu 37 19 4101083 4101083 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030662.3 -1 reviewed p.F213 0.996 22 0% 26 53.8% 146 45.2% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAP2K2 5605 genome.wustl.edu 37 19 4117527 4117527 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030662.3 -1 reviewed p.G65S 1.000 33 0% 35 45.7% 136 47.7% benign(0.187) deleterious(0.04) neutral(0.366) superfamily_Kinase_like CREB3L3 84699 genome.wustl.edu 37 19 4168370 4168370 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032607.1 +1 provisional p.K246T 1.000 58 0% 46 34.8% 0 - possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) HMMSmart_SM00338,superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1 CCDC94 55702 genome.wustl.edu 37 19 4267637 4267637 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018074.4 +1 provisional p.R242M 0.844 8 0.000 13 0.385 25 52% benign(0.296) tolerated(0.1) neutral(0.378) HMMPfam_DUF572 MPND 84954 genome.wustl.edu 37 19 4357325 4357325 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032868.4 +1 validated p.P358S 1.000 6 0.000 7 0.571 30 43.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mov34,superfamily_JAB1/MPN domain MPND 84954 genome.wustl.edu 37 19 4359952 4359952 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032868.4 +1 validated p.C457R 0.898 5 0.000 8 0.625 29 75.8% benign(0.143) tolerated(0.08) neutral(0.312) NULL CHAF1A 10036 genome.wustl.edu 37 19 4429756 4429756 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005483.2 +1 validated p.P609S 1.000 98 0% 74 54.1% 29 27.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL UBXN6 80700 genome.wustl.edu 37 19 4453935 4453935 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025241.2 -1 validated p.R80Q 0.998 26 0% 21 38.1% 97 62.8% possibly_damaging(0.727) tolerated(0.4) neutral(0.281) NULL HDGFRP2 84717 genome.wustl.edu 37 19 4491574 4491574 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001520.1 +1 reviewed p.S167 0.000 18 0% 14 50% 82 48.7% - - - NULL PLIN4 729359 genome.wustl.edu 37 19 4511413 4511413 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080400.1 -1 provisional p.T839 0.005 61 0% 62 51.6% 0 - - - - NULL PLIN4 729359 genome.wustl.edu 37 19 4512187 4512187 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080400.1 -1 provisional p.T581 0.000 73 0% 73 17.8% 0 - - - - NULL PLIN4 729359 genome.wustl.edu 37 19 4512197 4512197 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080400.1 -1 provisional p.T578I 0.000 68 0% 65 47.7% 0 - possibly_damaging(0.767) deleterious(0.03) deleterious(0.649) NULL SEMA6B 10501 genome.wustl.edu 37 19 4550182 4550182 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032108.2 -1 reviewed p.A408 0.953 16 0% 20 45% 6 0% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain DPP9 91039 genome.wustl.edu 37 19 4676624 4676624 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139159.4 -1 reviewed p.G877 0.982 14 0% 22 45.5% 45 46.6% - - - HMMPfam_Peptidase_S9,superfamily_SSF53474 FEM1A 55527 genome.wustl.edu 37 19 4793565 4793565 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018708.2 +1 validated p.L567M 1.000 19 0% 29 37.9% 33 39.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TICAM1 148022 genome.wustl.edu 37 19 4817253 4817253 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182919.2 -1 validated p.S379 0.000 46 0% 30 20% 15 6.6% - - - NULL UHRF1 29128 genome.wustl.edu 37 19 4929426 4929426 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398240 +1 known p.E129K 0.928 12 0% 19 47.4% 21 42.8% benign(0.011) tolerated(0.27) neutral(0.034) NULL PTPRS 5802 genome.wustl.edu 37 19 5210574 5210574 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002850.3 -1 reviewed p.R1798H 1.000 45 0% 43 48.8% 127 48.8% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRS 5802 genome.wustl.edu 37 19 5244326 5244326 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002850.3 -1 reviewed p.R386C 0.976 60 0% 54 27.8% 28 57.1% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SAFB2 9667 genome.wustl.edu 37 19 5598855 5598855 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014649.2 -1 validated p.S577 0.019 157 0.6% 121 48.8% 36 41.6% - - - superfamily_SSF54928 SAFB 6294 genome.wustl.edu 37 19 5667401 5667401 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002967.2 +1 reviewed p.R831W 1.000 32 0% 19 57.9% 70 40% unknown(0) deleterious(0) - NULL LONP1 9361 genome.wustl.edu 37 19 5707707 5707707 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004793.2 -1 reviewed e6+1 1.000 11 0% 11 63.6% 2 50% - - - - LONP1 9361 genome.wustl.edu 37 19 5711824 5711824 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004793.2 -1 reviewed p.E276 1.000 9 0.000 12 0.500 77 68.8% - - - HMMPfam_LON,HMMSmart_LON CATSPERD 257062 genome.wustl.edu 37 19 5744496 5744496 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152784.3 +1 validated p.A211V 0.012 496 0% 271 45% 0 - benign(0.234) deleterious(0) neutral(0.468) NULL FUT6 2528 genome.wustl.edu 37 19 5831769 5831769 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000150.2 -1 reviewed p.P270 0.834 47 0% 57 38.6% 1 100% - - - HMMPfam_Glyco_transf_10 FUT6 2528 genome.wustl.edu 37 19 5832458 5832458 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000150.2 -1 reviewed p.P41S 0.002 19 0% 21 42.9% 0 - benign(0.136) tolerated(0.32) neutral(0.036) HMMPfam_Glyco_transf_10 FUT3 2525 genome.wustl.edu 37 19 5844583 5844583 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000149.3 -1 reviewed p.D90N 0.943 30 0% 22 50% 0 - benign(0.312) tolerated(0.47) neutral(0.108) HMMPfam_Glyco_transf_10 RANBP3 8498 genome.wustl.edu 37 19 5932507 5932507 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007322.2 -1 reviewed p.P174L 1.000 20 0% 15 46.7% 51 45% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACSBG2 81616 genome.wustl.edu 37 19 6185664 6185664 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030924.3 +1 validated p.E514* 1.000 44 0% 36 38.9% 0 - - - - HMMPfam_AMP-binding,superfamily_SSF56801 MLLT1 4298 genome.wustl.edu 37 19 6222293 6222293 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005934.3 -1 validated p.R317C 1.000 37 0% 39 35.9% 35 37.1% unknown(0) deleterious(0.04) - NULL KHSRP 8570 genome.wustl.edu 37 19 6415546 6415546 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003685.2 -1 validated p.I629 0.829 11 0% 26 46.2% 66 36.3% - - - HMMPfam_DUF1897 KHSRP 8570 genome.wustl.edu 37 19 6419267 6419267 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003685.2 -1 validated p.S184 0.340 16 0% 30 53.3% 165 43.6% - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) TNFSF9 8744 genome.wustl.edu 37 19 6534730 6534730 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003811.3 +1 reviewed p.V140I 0.000 17 0% 23 34.8% 2 0% benign(0) tolerated(0.29) neutral(0.029) HMMPfam_TNF,HMMSmart_TNF,PatternScan_TNF_1,superfamily_TNF_like C3 718 genome.wustl.edu 37 19 6693007 6693007 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000064.2 -1 reviewed p.W1106* 1.000 51 0% 48 35.4% 9 11.1% - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp C3 718 genome.wustl.edu 37 19 6694573 6694573 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000064.2 -1 reviewed p.S1008L 0.024 22 0% 18 22.2% 8 12.5% possibly_damaging(0.698) tolerated(0.12) deleterious(0.512) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN EMR1 2015 genome.wustl.edu 37 19 6897470 6897470 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001974.3 +1 reviewed p.C142 1.000 95 0% 57 52.6% 0 - - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin EMR4P 326342 genome.wustl.edu 37 19 6990799 6990799 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000359590 -1 known p.R4K 0.268 54 0% 37 37.8% 0 - - - - NULL INSR 3643 genome.wustl.edu 37 19 7122735 7122735 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000208.2 -1 reviewed p.A1140V 1.000 76 0% 55 49.1% 10 20% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) INSR 3643 genome.wustl.edu 37 19 7174651 7174651 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000208.2 -1 reviewed p.E356K 1.000 23 0% 19 57.9% 3 33.3% benign(0) tolerated(0.91) - superfamily_L domain-like INSR 3643 genome.wustl.edu 37 19 7267569 7267569 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000208.2 -1 reviewed p.E147K 1.000 88 0% 71 43.7% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Recep_L_domain,superfamily_L domain-like ARHGEF18 23370 genome.wustl.edu 37 19 7524831 7524831 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130955.1 +1 reviewed p.E613D 1.000 15 0% 10 50% 22 31.8% possibly_damaging(0.818) tolerated(0.18) neutral(0.365) NULL XAB2 56949 genome.wustl.edu 37 19 7692636 7692636 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020196.2 -1 validated p.R101M 1.000 43 0% 35 48.6% 47 36.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_HAT,superfamily_SSF48452 STXBP2 6813 genome.wustl.edu 37 19 7709503 7709503 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006949.2 +1 reviewed p.L371 1.000 6 0.000 9 0.556 115 48.6% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins LRRC8E 80131 genome.wustl.edu 37 19 7963575 7963575 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025061.3 +1 validated p.P56 0.995 45 0% 32 15.6% 8 0% - - - NULL FBN3 84467 genome.wustl.edu 37 19 8145995 8145995 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032447.3 -1 reviewed p.E2449K 1.000 19 0% 24 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_EGF_CA,PatternScan_EGF_CA FBN3 84467 genome.wustl.edu 37 19 8152948 8152948 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032447.3 -1 reviewed p.C2164 0.910 27 0% 27 40.7% 1 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA FBN3 84467 genome.wustl.edu 37 19 8152969 8152969 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032447.3 -1 reviewed p.E2157D 1.000 27 0% 28 17.9% 1 0% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN3 84467 genome.wustl.edu 37 19 8153004 8153004 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032447.3 -1 reviewed p.G2146R 1.000 28 0% 34 55.9% 0 - benign(0.392) deleterious(0) deleterious(0.570) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN3 84467 genome.wustl.edu 37 19 8162290 8162290 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032447.3 -1 reviewed p.E1724* 1.000 17 0.000 7 0.714 1 100% - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN3 84467 genome.wustl.edu 37 19 8207008 8207008 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032447.3 -1 reviewed p.G185 0.795 10 0.000 9 0.556 0 - - - - superfamily_TB module/8-cys domain,superfamily_EGF/Laminin MYO1F 4542 genome.wustl.edu 37 19 8595220 8595220 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012335.3 -1 validated p.R730W 0.997 19 0% 19 63.2% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_TH1 MYO1F 4542 genome.wustl.edu 37 19 8595362 8595362 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012335.3 -1 validated p.Y713 0.642 10 0% 20 35% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1F 4542 genome.wustl.edu 37 19 8618046 8618046 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012335.3 -1 validated p.R161C 1.000 51 0% 48 10.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ADAMTS10 81794 genome.wustl.edu 37 19 8661280 8661280 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030957.2 -1 reviewed p.G367 0.656 19 0% 19 26.3% 3 0% - - - HMMPfam_Reprolysin,superfamily_SSF55486 ZNF558 148156 genome.wustl.edu 37 19 8933331 8933331 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144693.1 -1 provisional p.A2V 0.094 27 0% 18 27.8% 3 66.6% possibly_damaging(0.913) deleterious(0) deleterious(0.809) NULL MUC16 94025 genome.wustl.edu 37 19 9001855 9001855 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.P13465T 0.016 113 0% 66 53% 3 33.3% probably_damaging(0.989) tolerated(0.55) neutral(0.447) NULL MUC16 94025 genome.wustl.edu 37 19 9012885 9012885 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.L12853 0.000 300 0% 173 37.6% 0 - - - - HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain MUC16 94025 genome.wustl.edu 37 19 9024949 9024949 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.R12305C 0.001 116 0.9% 83 51.8% 1 100% probably_damaging(0.989) - - HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain MUC16 94025 genome.wustl.edu 37 19 9056673 9056673 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.S10258I 0.003 60 0% 33 36.4% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9058224 9058224 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.P9741H 0.001 103 0% 55 38.2% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9058991 9058991 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.E9485 0.000 207 0% 83 43.4% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9061629 9061629 + Missense_Mutation SNP C C T rs182118027 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.R8606H 0.000 246 0% 115 59.1% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9061732 9061732 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.S8572P 0.000 123 0% 51 49% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9067135 9067135 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.E6771K 0.000 206 0% 112 42.9% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9069196 9069196 + Missense_Mutation SNP C C T rs190236703 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.A6084T 0.000 110 0% 49 49% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9070134 9070134 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.R5771K 0.001 155 0% 95 36.8% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9071137 9071137 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.Q5437* 0.000 194 0% 126 55.6% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9073462 9073462 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.A4662T 0.000 190 0% 78 50% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9075608 9075608 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.P3946 0.005 98 0% 43 27.9% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9075899 9075899 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.T3849 0.000 277 0% 144 38.2% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9082704 9082704 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.E3037D 0.024 101 0% 57 38.6% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9085325 9085325 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.T2164A 0.042 72 0% 43 34.9% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9090038 9090038 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024690.2 -1 validated p.E593* 0.013 76 0% 29 44.8% 0 - - - - NULL ZNF317 57693 genome.wustl.edu 37 19 9271677 9271677 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020933.3 +1 provisional p.G452 0.988 38 0% 32 40.6% 14 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR7D2 162998 genome.wustl.edu 37 19 9296529 9296529 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175883.1 +1 provisional p.Q24 0.978 94 0% 43 48.8% 0 - - - - superfamily_SSF81321 OR7E24 26648 genome.wustl.edu 37 19 9361974 9361974 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079935.1 +1 provisional p.S85 0.959 59 0% 63 47.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF559 84527 genome.wustl.edu 37 19 9449921 9449921 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032497.1 +1 provisional p.T29I 0.013 256 0% 150 51.3% 10 40% benign(0.252) tolerated(0.09) neutral(0.323) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF177 7730 genome.wustl.edu 37 19 9492003 9492003 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003451.2 +1 validated p.R172S 1.000 180 0% 92 46.7% 5 80% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF266 10781 genome.wustl.edu 37 19 9524066 9524066 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006631.2 -1 validated p.R512Q 0.006 106 0.9% 60 48.3% 32 31.2% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9578016 9578016 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152476.2 -1 validated p.R536Q 0.047 151 0% 60 45% 0 - benign(0.075) tolerated(0.07) neutral(0.324) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9578436 9578436 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152476.2 -1 validated p.R396Q 0.002 266 0.4% 105 41% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9578679 9578679 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152476.2 -1 validated p.S315N 0.001 432 0% 200 38% 0 - benign(0.176) deleterious(0.04) neutral(0.365) NULL ZNF561 93134 genome.wustl.edu 37 19 9721222 9721222 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152289.2 -1 validated p.K372T 0.986 317 0% 170 41.2% 40 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF846 162993 genome.wustl.edu 37 19 9868260 9868260 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077624.1 -1 validated p.R498Q 0.806 170 0% 102 53.9% 0 - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) HMMSmart_SM00614,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OLFM2 93145 genome.wustl.edu 37 19 9965044 9965044 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_058164.2 -1 provisional p.A395T 0.999 24 0% 28 64.3% 56 42.8% possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) HMMPfam_OLF,HMMSmart_OLF P2RY11 5032 genome.wustl.edu 37 19 10224713 10224713 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002566.4 +1 reviewed p.R142* 0.017 15 0% 16 37.5% 27 40.7% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ICAM3 3385 genome.wustl.edu 37 19 10449542 10449542 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002162.3 -1 reviewed p.C53 1.000 51 0% 35 34.3% 7 0% - - - HMMPfam_ICAM_N,superfamily_SSF48726 ICAM3 3385 genome.wustl.edu 37 19 10449598 10449598 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002162.3 -1 reviewed p.R35W 0.000 44 0% 38 47.4% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_ICAM_N,superfamily_SSF48726 TYK2 7297 genome.wustl.edu 37 19 10464841 10464841 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003331.4 -1 reviewed p.V929M 1.000 23 0% 27 37% 68 45.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP CDC37 11140 genome.wustl.edu 37 19 10502351 10502351 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007065.3 -1 reviewed p.D338G 1.000 17 0% 20 50% 354 50.5% probably_damaging(0.969) deleterious(0.02) deleterious(0.794) HMMPfam_CDC37_C,superfamily_Hsp90 co-chaperone CDC37 CDC37 11140 genome.wustl.edu 37 19 10504108 10504108 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007065.3 -1 reviewed p.R246C 1.000 13 0% 11 63.6% 248 47.9% probably_damaging(0.956) deleterious(0.03) deleterious(0.764) HMMPfam_CDC37_M,superfamily_Hsp90 co-chaperone CDC37 PDE4A 5141 genome.wustl.edu 37 19 10574586 10574586 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111307.1 +1 validated p.R621C 1.000 24 0% 26 42.3% 13 76.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like PDE4A 5141 genome.wustl.edu 37 19 10574654 10574654 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380686 +1 known p.V309 0.970 14 0% 22 36.4% 0 - - - - HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like AP1M2 10053 genome.wustl.edu 37 19 10692494 10692494 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005498.4 -1 reviewed p.V110I 0.996 59 0% 61 50.8% 95 52.6% benign(0.001) tolerated(1) - superfamily_SNARE-like SLC44A2 57153 genome.wustl.edu 37 19 10742770 10742770 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020428.3 +1 validated p.R254H 1.000 150 0% 98 41.8% 81 41.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC44A2 57153 genome.wustl.edu 37 19 10745557 10745557 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020428.3 +1 validated p.A317T 1.000 80 0% 68 35.3% 87 48.2% benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_DUF580 QTRT1 81890 genome.wustl.edu 37 19 10812883 10812883 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031209.2 +1 validated p.E135G 1.000 20 0% 24 54.2% 73 54.7% possibly_damaging(0.639) deleterious(0.04) deleterious(0.573) superfamily_tRNA_ribo_trans DNM2 1785 genome.wustl.edu 37 19 10887837 10887837 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005360.1 +1 reviewed p.D211 0.974 62 0% 47 46.8% 98 44.8% - - - HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases CARM1 10498 genome.wustl.edu 37 19 11030563 11030563 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199141.1 +1 validated p.P373S 1.000 39 0% 37 37.8% 56 37.5% possibly_damaging(0.822) deleterious(0.03) deleterious(0.675) superfamily_SSF53335 SMARCA4 6597 genome.wustl.edu 37 19 11123648 11123648 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128849.1 +1 reviewed p.V766 1.000 26 0% 32 37.5% 88 50% - - - HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 LDLR 3949 genome.wustl.edu 37 19 11217265 11217265 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000527.3 +1 reviewed p.E240A 1.000 59 0% 43 41.9% 18 55.5% possibly_damaging(0.653) deleterious(0.01) deleterious(0.635) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module LDLR 3949 genome.wustl.edu 37 19 11224368 11224368 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000527.3 +1 reviewed p.V506M 0.000 30 0% 26 30.8% 21 19% benign(0.106) tolerated(0.07) neutral(0.327) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain KANK2 25959 genome.wustl.edu 37 19 11303725 11303725 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136191.2 -1 validated p.S344I 1.000 6 0.000 10 0.500 12 41.6% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL DOCK6 57572 genome.wustl.edu 37 19 11333710 11333710 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020812.2 -1 validated p.R1010W 1.000 12 0% 19 47.4% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LPPR2 64748 genome.wustl.edu 37 19 11468409 11468409 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022737.2 +1 validated p.F20 0.989 60 0% 54 37% 39 48.7% - - - NULL PRKCSH 5589 genome.wustl.edu 37 19 11546960 11546960 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002743.2 +1 reviewed p.L8M 1.000 12 0% 12 33.3% 327 10.3% unknown(0) tolerated(0.23) - NULL ZNF653 115950 genome.wustl.edu 37 19 11596563 11596563 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138783.3 -1 validated p.R493Q 1.000 124 0% 108 47.2% 14 50% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_SSF57667 ZNF653 115950 genome.wustl.edu 37 19 11606860 11606860 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138783.3 -1 validated p.T155M 0.998 30 0% 13 53.8% 12 58.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ECSIT 51295 genome.wustl.edu 37 19 11623935 11623935 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016581.3 -1 validated p.E225G 1.000 25 0% 21 66.7% 48 41.6% benign(0.026) deleterious(0.02) neutral(0.384) HMMPfam_ECSIT ECSIT 51295 genome.wustl.edu 37 19 11624942 11624942 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016581.3 -1 validated p.R64M 0.000 11 0% 18 22.2% 34 17.6% benign(0.03) tolerated(0.09) neutral(0.298) HMMPfam_ECSIT ACP5 54 genome.wustl.edu 37 19 11687971 11687971 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111034.1 -1 reviewed p.I54 0.697 33 0% 29 44.8% 11 0% - - - HMMPfam_Metallophos,superfamily_SSF56300 ZNF441 126068 genome.wustl.edu 37 19 11892500 11892500 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152355.2 +1 validated p.G621S 1.000 128 0% 74 56.8% 5 20% possibly_damaging(0.457) deleterious(0.03) deleterious(0.514) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF440 126070 genome.wustl.edu 37 19 11943086 11943086 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152357.2 +1 validated p.E365D 1.000 122 0% 63 12.7% 9 33.3% benign(0.002) deleterious(0.03) neutral(0.364) superfamily_SSF57667 ZNF440 126070 genome.wustl.edu 37 19 11943545 11943545 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152357.2 +1 validated p.S518 0.000 99 0% 50 50% 4 50% - - - NULL ZNF439 90594 genome.wustl.edu 37 19 11979347 11979347 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152262.2 +1 provisional p.Q488R 0.736 133 0% 48 45.8% 8 12.5% benign(0.018) deleterious(0) neutral(0.445) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF69 7620 genome.wustl.edu 37 19 12016327 12016327 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000429654 +1 known p.A372V 0.000 184 0% 86 46.5% 5 80% benign(0.001) tolerated(0.49) neutral(0.011) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF700 90592 genome.wustl.edu 37 19 12059125 12059125 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144566.1 +1 provisional p.E96* 0.255 389 0% 176 36.4% 8 75% - - - NULL ZNF700 90592 genome.wustl.edu 37 19 12059270 12059270 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144566.1 +1 provisional p.S144I 0.201 290 0% 161 14.9% 7 28.5% possibly_damaging(0.805) tolerated(0.27) neutral(0.337) NULL ZNF878 729747 genome.wustl.edu 37 19 12154644 12154644 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080404.1 -1 inferred p.K571 0.000 190 0% 94 41.5% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF844 284391 genome.wustl.edu 37 19 12186666 12186666 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136501.1 +1 provisional p.E244A 0.002 126 0% 59 50.8% 4 25% possibly_damaging(0.918) deleterious(0.04) deleterious(0.718) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF844 284391 genome.wustl.edu 37 19 12187461 12187461 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136501.1 +1 provisional p.V509A 1.000 193 0% 81 9.9% 5 0% benign(0.382) deleterious(0) deleterious(0.567) NULL ZNF844 284391 genome.wustl.edu 37 19 12187644 12187644 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136501.1 +1 provisional p.S570Y 0.000 176 0% 84 51.2% 8 37.5% possibly_damaging(0.819) - - NULL ZNF20 7568 genome.wustl.edu 37 19 12244686 12244686 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021143.2 -1 validated p.C105 0.000 195 0% 105 45.7% 10 60% - - - HMMSmart_SM00355 ZNF136 7695 genome.wustl.edu 37 19 12296976 12296976 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003437.2 +1 validated p.G60W 0.484 273 0% 98 26.5% 5 60% possibly_damaging(0.917) deleterious(0.01) deleterious(0.774) HMMSmart_KRAB,superfamily_Krueppel-associated_box LOC100287841 100287841 genome.wustl.edu 37 19 12358279 12358279 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343641.1 -1 model p.R479Q 0.998 46 0% 18 61.1% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF44 51710 genome.wustl.edu 37 19 12384252 12384252 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016264.3 -1 validated p.R273I 0.280 250 0% 114 42.1% 6 33.3% benign(0.367) deleterious(0.05) neutral(0.462) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF44 51710 genome.wustl.edu 37 19 12384826 12384826 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016264.3 -1 validated p.E82* 0.009 233 0% 130 40.8% 5 40% - - - NULL ZNF442 79973 genome.wustl.edu 37 19 12461473 12461473 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030824.2 -1 validated p.R309Q 0.000 288 0.3% 160 46.9% 0 - benign(0.151) tolerated(0.51) neutral(0.022) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF709 163051 genome.wustl.edu 37 19 12575345 12575345 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152601.3 -1 validated p.R464Q 0.000 122 0% 82 36.6% 3 66.6% probably_damaging(0.993) tolerated(0.76) neutral(0.451) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAN2B1 4125 genome.wustl.edu 37 19 12758061 12758061 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000528.3 -1 reviewed p.W970L 1.000 42 0% 43 37.2% 120 27.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C WDR83 84292 genome.wustl.edu 37 19 12781090 12781090 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099737.2 +1 reviewed p.G107 0.996 40 2.5% 48 35.4% 28 42.8% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DHPS 1725 genome.wustl.edu 37 19 12788163 12788163 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001930.2 -1 reviewed p.G242 0.002 28 0% 37 35.1% 83 43.3% - - - HMMPfam_DS,superfamily_DHS-like NAD/FAD-binding domain DHPS 1725 genome.wustl.edu 37 19 12791009 12791009 + Splice_Site SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441196 -1 known e2+1 1.000 92 0% 86 40.7% 94 45.7% probably_damaging(1) deleterious(0) deleterious(0.945) - TNPO2 30000 genome.wustl.edu 37 19 12814610 12814610 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136196.1 -1 validated p.S676 0.004 58 0% 64 46.9% 55 41.8% - - - HMMPfam_HEAT,superfamily_ARM repeat TNPO2 30000 genome.wustl.edu 37 19 12822254 12822254 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136196.1 -1 validated p.A325T 1.000 36 0% 40 35% 51 49% benign(0) tolerated(0.57) neutral(0.006) superfamily_ARM repeat RNASEH2A 10535 genome.wustl.edu 37 19 12918272 12918272 + Silent SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006397.2 +1 reviewed p.A121 0.076 93 0% 77 37.7% 108 45.3% - - - HMMPfam_RNase_HII,superfamily_Ribonuclease H-like MAST1 22983 genome.wustl.edu 37 19 12969543 12969543 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014975.2 +1 validated p.E452D 0.984 55 0% 43 14% 6 33.3% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FARSA 2193 genome.wustl.edu 37 19 13035582 13035582 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004461.2 -1 validated p.V356I 1.000 22 0% 38 21.1% 123 24.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2d,superfamily_Class II aaRS and biotin synthetases NFIX 4784 genome.wustl.edu 37 19 13184243 13184243 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002501.2 +1 validated p.L210 1.000 243 0% 203 38.4% 107 51.4% - - - NULL NFIX 4784 genome.wustl.edu 37 19 13201123 13201123 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002501.2 +1 validated p.R422Q 1.000 33 3% 29 44.8% 137 43.7% probably_damaging(0.999) tolerated(0.24) deleterious(0.528) NULL CACNA1A 773 genome.wustl.edu 37 19 13342653 13342653 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127222.1 -1 reviewed p.W1757C 1.000 62 0% 49 30.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1A 773 genome.wustl.edu 37 19 13365963 13365963 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127222.1 -1 reviewed p.F1567 1.000 30 0% 38 39.5% 0 - - - - superfamily_Voltage-gated potassium channels CACNA1A 773 genome.wustl.edu 37 19 13373582 13373582 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127222.1 -1 reviewed p.P1352H 1.000 207 0% 139 41.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ZSWIM4 65249 genome.wustl.edu 37 19 13910592 13910592 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023072.2 +1 validated p.S71L 0.997 36 0% 36 13.9% 4 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CC2D1A 54862 genome.wustl.edu 37 19 14034150 14034150 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017721.4 +1 reviewed p.P549L 0.998 11 0% 23 39.1% 46 63% probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMSmart_SM00685 PODNL1 79883 genome.wustl.edu 37 19 14048698 14048698 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024825.3 -1 validated p.R49H 0.942 15 0% 19 57.9% 4 50% benign(0.082) tolerated(0.18) neutral(0.062) NULL IL27RA 9466 genome.wustl.edu 37 19 14153356 14153356 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004843.2 +1 reviewed p.R209Q 0.395 63 0% 60 36.7% 11 36.3% benign(0.012) tolerated(0.57) neutral(0.007) HMMSmart_SM00060,superfamily_Fibronectin type III PALM3 342979 genome.wustl.edu 37 19 14167249 14167249 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145028.1 -1 validated p.R116C 1.000 28 0% 35 25.7% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL LPHN1 22859 genome.wustl.edu 37 19 14273875 14273875 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008701.2 -1 reviewed p.T251 0.621 15 0% 29 51.7% 34 50% - - - HMMPfam_OLF,HMMSmart_SM00284 ENSG00000248045 0 genome.wustl.edu 37 19 14281404 14281404 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000498856 +1 novel NULL 0.003 4 0.000 14 0.429 3 66.6% - - - - LPHN1 22859 genome.wustl.edu 37 19 14288466 14288466 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008701.2 -1 reviewed p.D54G 1.000 11 0.000 7 0.571 17 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gal_Lectin CD97 976 genome.wustl.edu 37 19 14499261 14499261 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_078481.2 +1 reviewed e2-1 0.208 77 0% 59 13.6% 0 - - - - - DDX39A 10212 genome.wustl.edu 37 19 14521883 14521883 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005804.2 -1 reviewed p.A177 0.091 26 0% 27 40.7% 148 39.1% - - - HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 PKN1 5585 genome.wustl.edu 37 19 14580247 14580247 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_213560.1 +1 reviewed p.V697M 1.000 24 0% 36 47.2% 161 49.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DNAJB1 3337 genome.wustl.edu 37 19 14626936 14626936 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006145.1 -1 provisional p.T280M 1.000 41 0% 44 38.6% 149 41.6% benign(0.326) tolerated(0.11) neutral(0.373) HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain EMR2 30817 genome.wustl.edu 37 19 14877890 14877890 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013447.2 -1 reviewed p.L129 0.327 24 0% 30 76.7% 1 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin EMR2 30817 genome.wustl.edu 37 19 14884860 14884860 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013447.2 -1 reviewed p.A30V 0.008 35 0% 48 45.8% 3 0% possibly_damaging(0.792) deleterious(0.02) deleterious(0.680) HMMSmart_SM00181 OR7C1 26664 genome.wustl.edu 37 19 14910694 14910694 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198944.1 -1 validated p.I85M 0.000 101 0% 67 31.3% 0 - benign(0.105) tolerated(0.23) neutral(0.050) HMMPfam_7tm_1,superfamily_SSF81321 CCDC105 126402 genome.wustl.edu 37 19 15132470 15132470 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173482.2 +1 validated p.L362I 0.987 56 0% 49 40.8% 0 - benign(0.237) tolerated(0.22) neutral(0.066) NULL CCDC105 126402 genome.wustl.edu 37 19 15132721 15132721 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173482.2 +1 validated p.R414H 0.839 11 0% 17 58.8% 0 - benign(0.032) tolerated(0.26) neutral(0.036) NULL ILVBL 10994 genome.wustl.edu 37 19 15226155 15226155 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006844.3 -1 reviewed p.D603N 0.002 15 0% 17 41.2% 125 21.6% benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_TPP_enzyme_C,superfamily_Thiamin diphosphate-binding fold (THDP-binding) NOTCH3 4854 genome.wustl.edu 37 19 15285189 15285189 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000435.2 -1 reviewed p.A1476T 0.954 14 0.000 9 0.778 33 45.4% benign(0.004) tolerated(0.59) neutral(0.004) HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain BRD4 23476 genome.wustl.edu 37 19 15349220 15349220 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_058243.2 -1 reviewed p.L1353I 1.000 187 0% 115 12.2% 40 30% probably_damaging(0.984) - - NULL BRD4 23476 genome.wustl.edu 37 19 15355083 15355083 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_058243.2 -1 reviewed p.T847N 1.000 20 0% 14 28.6% 71 49.2% unknown(0) - - NULL BRD4 23476 genome.wustl.edu 37 19 15383824 15383824 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_058243.2 -1 reviewed p.T29 1.000 78 0% 59 13.6% 56 8.9% - - - NULL WIZ 58525 genome.wustl.edu 37 19 15537975 15537975 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021241.2 -1 validated p.P300H 1.000 36 0% 29 31% 38 57.8% unknown(0) deleterious(0) - NULL CYP4F22 126410 genome.wustl.edu 37 19 15654824 15654824 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173483.3 +1 reviewed p.E328K 0.998 43 0% 37 51.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_p450,superfamily_Cytochrome_P450 LOC100287986 100287986 genome.wustl.edu 37 19 15740068 15740068 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343618.1 -1 model p.R4C 1.000 23 0% 43 55.8% 0 - possibly_damaging(0.468) tolerated(0.18) neutral(0.209) NULL CYP4F3 4051 genome.wustl.edu 37 19 15758104 15758104 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000896.2 +1 reviewed p.K165N 0.106 154 0% 94 45.7% 0 - possibly_damaging(0.472) tolerated(0.09) neutral(0.453) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F3 4051 genome.wustl.edu 37 19 15763647 15763647 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000896.2 +1 reviewed p.A334S 1.000 61 0% 73 21.9% 0 - benign(0.396) tolerated(0.1) neutral(0.413) HMMPfam_p450,superfamily_Cytochrome_P450 LOC646575 646575 genome.wustl.edu 37 19 15775174 15775174 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343630.1 +1 model p.E20G 0.000 137 0% 98 38.8% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP4F12 66002 genome.wustl.edu 37 19 15807854 15807854 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023944.2 +1 reviewed p.L512F 0.999 26 0% 20 45% 0 - possibly_damaging(0.866) deleterious(0.03) deleterious(0.700) HMMPfam_p450,superfamily_Cytochrome P450 OR10H2 26538 genome.wustl.edu 37 19 15839437 15839437 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013939.2 +1 validated p.A195V 0.000 120 0% 110 44.5% 0 - benign(0) tolerated(0.43) neutral(0.013) HMMPfam_7tm_1,superfamily_SSF81321 OR10H3 26532 genome.wustl.edu 37 19 15853063 15853063 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013938.1 +1 provisional p.L287 0.004 228 0% 146 45.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000225607 0 genome.wustl.edu 37 19 15881931 15881931 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000412610 -1 known p.R213H 0.810 74 0% 64 50% 0 - benign(0.018) tolerated(0.09) neutral(0.297) HMMPfam_p450,superfamily_Cytochrome P450 OR10H5 284433 genome.wustl.edu 37 19 15904867 15904867 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004466.1 +1 provisional p.G3 0.000 97 0% 104 37.5% 0 - - - - superfamily_SSF81321 CYP4F2 8529 genome.wustl.edu 37 19 15990655 15990655 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001082.3 -1 reviewed p.R390W 0.997 57 0% 46 41.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F2 8529 genome.wustl.edu 37 19 16008282 16008282 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001082.3 -1 reviewed p.R47H 0.002 41 0% 46 41.3% 0 - benign(0.039) tolerated(0.17) neutral(0.061) NULL OR10H4 126541 genome.wustl.edu 37 19 16060750 16060750 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004465.1 +1 validated p.F311L 0.001 59 0% 33 54.5% 0 - benign(0) tolerated(0.69) neutral(0.002) superfamily_SSF81321 AP1M1 8907 genome.wustl.edu 37 19 16314296 16314296 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130524.1 +1 reviewed p.G23 0.052 53 0% 41 39% 21 33.3% - - - superfamily_Longin_like MED26 9441 genome.wustl.edu 37 19 16687659 16687659 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004831.3 -1 validated p.R328W 0.881 4 0.000 7 0.571 3 66.6% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL TMEM38A 79041 genome.wustl.edu 37 19 16798983 16798983 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024074.1 +1 provisional p.S234N 0.794 27 0% 27 40.7% 6 100% benign(0.059) tolerated(0.19) neutral(0.054) NULL SIN3B 23309 genome.wustl.edu 37 19 16957898 16957898 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015260.1 +1 provisional p.F234V 1.000 20 0% 25 48% 38 57.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PAH,superfamily_PAH2 domain MYO9B 4650 genome.wustl.edu 37 19 17283272 17283272 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004145.3 +1 reviewed p.V640 0.999 43 0% 35 45.7% 24 33.3% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO9B 4650 genome.wustl.edu 37 19 17305548 17305548 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004145.3 +1 reviewed p.Q1104H 0.002 42 0% 27 40.7% 23 78.2% possibly_damaging(0.843) tolerated(0.12) deleterious(0.584) NULL MYO9B 4650 genome.wustl.edu 37 19 17321595 17321595 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004145.3 +1 reviewed p.G1956 0.000 53 0% 55 47.3% 52 34.6% - - - NULL USE1 55850 genome.wustl.edu 37 19 17330146 17330146 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018467.3 +1 validated p.L183F 1.000 33 0% 33 24.2% 38 15.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Use1 NR2F6 2063 genome.wustl.edu 37 19 17343214 17343214 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005234.3 -1 validated p.D388N 1.000 20 0% 27 33.3% 70 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain USHBP1 83878 genome.wustl.edu 37 19 17367444 17367444 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031941.3 -1 validated p.R436C 0.724 33 0% 27 37% 1 0% benign(0.002) tolerated(0.1) neutral(0.286) NULL USHBP1 83878 genome.wustl.edu 37 19 17370187 17370187 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031941.3 -1 validated p.Q319H 0.952 45 0% 39 41% 0 - possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) HMMPfam_MCC-bdg_PDZ DDA1 79016 genome.wustl.edu 37 19 17425150 17425150 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024050.5 +1 validated p.R30* 1.000 23 0% 22 50% 67 29.8% - - - HMMPfam_DDA1 ANO8 57719 genome.wustl.edu 37 19 17444520 17444520 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020959.2 -1 validated p.D66N 1.000 11 0.000 8 0.625 21 61.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GTPBP3 84705 genome.wustl.edu 37 19 17449790 17449790 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133644.2 +1 validated p.D207N 1.000 8 0.000 18 0.556 12 75% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 PLVAP 83483 genome.wustl.edu 37 19 17476214 17476214 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031310.1 -1 provisional p.L354M 0.913 21 0% 28 35.7% 59 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PV-1 FCHO1 23149 genome.wustl.edu 37 19 17885217 17885217 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015122.2 +1 validated p.R284W 0.964 9 0.000 19 0.263 4 0% possibly_damaging(0.507) deleterious(0.01) deleterious(0.575) NULL MAST3 23031 genome.wustl.edu 37 19 18249836 18249836 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015016.1 +1 validated p.R674C 0.965 32 0% 31 12.9% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TK_X MAST3 23031 genome.wustl.edu 37 19 18255895 18255895 + Silent SNP G G A rs56151275 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015016.1 +1 validated p.P936 0.331 11 0% 12 33.3% 14 28.5% - - - NULL SSBP4 170463 genome.wustl.edu 37 19 18538217 18538217 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032627.3 +1 validated p.Q39P 1.000 11 0% 15 26.7% 63 47.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_LisH ELL 8178 genome.wustl.edu 37 19 18576356 18576356 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006532.3 -1 validated p.G112D 1.000 17 0% 16 50% 12 41.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_ELL COMP 1311 genome.wustl.edu 37 19 18897454 18897454 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000095.2 -1 reviewed p.R381H 0.575 62 0% 58 34.5% 13 15.3% possibly_damaging(0.507) tolerated(0.22) neutral(0.212) HMMPfam_TSP_3,superfamily_SSF103647 UPF1 5976 genome.wustl.edu 37 19 18963082 18963082 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002911.3 +1 reviewed p.D317N 1.000 33 0% 18 38.9% 47 38.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UPF1 5976 genome.wustl.edu 37 19 18964071 18964071 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002911.3 +1 reviewed p.L356 1.000 29 0% 43 55.8% 56 35.7% - - - NULL UPF1 5976 genome.wustl.edu 37 19 18976892 18976892 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002911.3 +1 reviewed p.V1093M 1.000 38 0% 38 50% 74 47.2% benign(0.065) tolerated(0.06) neutral(0.327) NULL CERS1 10715 genome.wustl.edu 37 19 19004328 19004328 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021267.3 -1 reviewed p.S102 0.927 35 0% 38 44.7% 42 42.8% - - - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 DDX49 54555 genome.wustl.edu 37 19 19033521 19033521 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019070.4 +1 validated p.D248 1.000 10 0% 14 50% 83 49.3% - - - superfamily_SSF52540 MAU2 23383 genome.wustl.edu 37 19 19451657 19451657 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015329.3 +1 validated p.A185V 0.998 41 0% 44 13.6% 13 23% benign(0) tolerated(0.78) neutral(0.001) HMMPfam_Cohesin_load,superfamily_TPR-like GATAD2A 54815 genome.wustl.edu 37 19 19609385 19609385 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017660.3 +1 provisional p.R353H 1.000 16 0% 24 41.7% 50 52% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL YJEFN3 374887 genome.wustl.edu 37 19 19646353 19646353 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198537.2 +1 validated p.E187K 1.000 18 0% 23 26.1% 20 45% benign(0.008) tolerated(0.42) neutral(0.014) HMMPfam_YjeF_N,superfamily_YjeF N-terminal domain-like GMIP 51291 genome.wustl.edu 37 19 19753363 19753363 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016573.2 -1 reviewed p.E29K 0.994 61 0% 52 55.8% 22 40.9% probably_damaging(0.99) tolerated(0.14) deleterious(0.691) NULL ZNF101 94039 genome.wustl.edu 37 19 19790604 19790604 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033204.2 +1 provisional p.R269Q 0.135 77 1.3% 39 43.6% 7 14.2% benign(0.121) tolerated(0.49) neutral(0.020) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF14 7561 genome.wustl.edu 37 19 19822367 19822367 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021030.2 -1 reviewed p.R575* 0.000 157 0% 45 42.2% 9 44.4% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF506 440515 genome.wustl.edu 37 19 19905725 19905725 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099269.2 -1 validated p.R324H 0.000 126 0% 69 46.4% 17 58.8% benign(0.085) tolerated(0.56) neutral(0.013) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF682 91120 genome.wustl.edu 37 19 20117649 20117649 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033196.2 -1 validated p.R221I 1.000 204 0% 93 40.9% 5 20% benign(0.003) tolerated(0.16) neutral(0.059) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000250063 0 genome.wustl.edu 37 19 20368527 20368527 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000512225 -1 novel NULL 0.433 71 0% 42 47.6% 3 100% - - - - ZNF66P 7617 genome.wustl.edu 37 19 20989256 20989256 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000425625 +1 known p.P330S 1.000 53 0% 19 42.1% 4 0% - - - superfamily_C2H2 and C2HC zinc fingers ZNF85 7639 genome.wustl.edu 37 19 21132380 21132380 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003429.3 +1 validated p.S354P 0.000 104 0% 57 43.9% 3 66.6% possibly_damaging(0.882) tolerated(0.26) neutral(0.378) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF85 7639 genome.wustl.edu 37 19 21132617 21132617 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003429.3 +1 validated p.K433Q 0.998 123 0% 58 53.4% 7 100% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF85 7639 genome.wustl.edu 37 19 21133039 21133039 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003429.3 +1 validated p.K573N 0.544 81 0% 42 59.5% 7 28.5% possibly_damaging(0.67) deleterious(0) deleterious(0.682) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF714 148206 genome.wustl.edu 37 19 21299667 21299667 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000291770 +1 known p.S66Y 0.001 324 0% 148 45.3% 5 20% benign(0.084) tolerated(0.18) neutral(0.062) NULL ZNF493 284443 genome.wustl.edu 37 19 21606231 21606231 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001076678.2 +1 validated p.R257K 0.948 116 0% 31 51.6% 7 42.8% benign(0.001) tolerated(0.31) neutral(0.027) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21606938 21606938 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001076678.2 +1 validated p.E493* 0.007 58 0% 17 29.4% 3 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21607146 21607146 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001076678.2 +1 validated p.T562I 0.005 126 0% 29 34.5% 5 40% possibly_damaging(0.471) tolerated(0.24) neutral(0.193) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21607717 21607717 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001076678.2 +1 validated p.R752 0.000 108 0% 26 38.5% 5 80% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000196686 0 genome.wustl.edu 37 19 21608024 21608024 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000341265 -1 novel NULL 0.001 38 0.000 5 0.800 2 0% - - - - ZNF429 353088 genome.wustl.edu 37 19 21719788 21719788 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001415.2 +1 provisional p.K311 0.997 35 0% 23 65.2% 6 33.3% - - - superfamily_SSF57667 ZNF100 163227 genome.wustl.edu 37 19 21909852 21909852 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173531.3 -1 validated p.R421K 0.998 123 0% 59 22% 11 54.5% benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF100 163227 genome.wustl.edu 37 19 21910023 21910023 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173531.3 -1 validated p.K364M 0.856 75 0% 26 46.2% 10 50% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21991861 21991861 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003423.2 -1 validated p.P326 0.003 96 0% 30 43.3% 5 60% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF208 7757 genome.wustl.edu 37 19 22154834 22154834 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007153.3 -1 provisional p.Y873C 0.000 265 0% 70 44.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF257 113835 genome.wustl.edu 37 19 22255685 22255685 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033468.2 +1 provisional p.Q26H 0.256 541 0% 258 40.7% 8 25% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC100287226 100287226 genome.wustl.edu 37 19 22497907 22497907 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343636.1 +1 model p.K430T 0.916 23 0% 11 45.5% 0 - possibly_damaging(0.478) deleterious(0.01) deleterious(0.564) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22499522 22499522 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343636.1 +1 model p.K968N 1.000 65 0% 31 54.8% 0 - benign(0.023) deleterious(0.01) neutral(0.407) superfamily_C2H2 and C2HC zinc fingers ENSG00000235276 0 genome.wustl.edu 37 19 22782547 22782547 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000421840 +1 known p.R49W 0.028 14 0.000 6 0.667 0 - - - - NULL ZNF492 57615 genome.wustl.edu 37 19 22836791 22836791 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020855.2 +1 validated p.R35I 0.013 456 0% 265 38.9% 3 33.3% benign(0.193) tolerated(0.11) neutral(0.290) NULL LOC646864 646864 genome.wustl.edu 37 19 23040027 23040027 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001726885.1 +1 model p.Q141* 0.247 146 0% 40 27.5% 0 - - - - NULL ZNF728 388523 genome.wustl.edu 37 19 23158850 23158850 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001726961.1 -1 model p.G430D 1.000 36 0% 10 40% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23159378 23159378 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001726961.1 -1 model p.K254R 0.940 38 0% 17 41.2% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF724P 440519 genome.wustl.edu 37 19 23405536 23405536 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418100 -1 known p.K504R 1.000 22 0% 11 45.5% 4 25% benign(0.405) tolerated(0.06) neutral(0.453) superfamily_C2H2 and C2HC zinc fingers ZNF724P 440519 genome.wustl.edu 37 19 23405871 23405871 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418100 -1 known p.K392 1.000 33 0% 10 70% 2 0% - - - superfamily_C2H2 and C2HC zinc fingers ZNF724P 440519 genome.wustl.edu 37 19 23406757 23406757 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418100 -1 known p.R97I 0.000 49 0% 35 37.1% 0 - benign(0.002) tolerated(0.12) neutral(0.261) NULL ZNF91 7644 genome.wustl.edu 37 19 23543702 23543702 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003430.2 -1 validated p.K693N 0.022 410 0% 175 32% 6 33.3% unknown(0) deleterious(0.02) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23544955 23544955 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003430.2 -1 validated p.L276I 0.000 315 0% 162 44.4% 4 25% benign(0.002) tolerated(0.28) neutral(0.032) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23545427 23545427 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003430.2 -1 validated p.E118D 0.015 340 0% 149 37.6% 1 100% benign(0.163) tolerated(0.2) neutral(0.064) NULL ZNF91 7644 genome.wustl.edu 37 19 23557531 23557531 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003430.2 -1 validated p.F22 0.367 366 0% 184 38% 3 100% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC100131479 100131479 genome.wustl.edu 37 19 23779741 23779741 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001719802.1 +1 model p.S155Y 0.045 32 0% 27 22.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23836981 23836981 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138330.2 -1 validated p.R252* 1.000 252 0% 71 42.3% 7 57.1% - - - superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23837076 23837076 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138330.2 -1 validated p.R220I 1.000 272 0% 95 40% 4 0% benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23837077 23837077 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138330.2 -1 validated p.R220 1.000 274 0.4% 94 43.6% 4 100% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF681 148213 genome.wustl.edu 37 19 23927272 23927272 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138286.2 -1 validated p.H360 1.000 133 0% 53 43.4% 6 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000104777 0 genome.wustl.edu 37 19 24102382 24102382 + RNA SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000300996 -1 known NULL 0.001 63 0% 37 48.6% 0 - - - - - ENSG00000104777 0 genome.wustl.edu 37 19 24102712 24102712 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000300996 -1 known NULL 0.038 131 0% 52 44.2% 0 - - - - - ZNF726 730087 genome.wustl.edu 37 19 24116933 24116933 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000322487 +1 known p.E618D 0.979 55 0% 24 50% 0 - possibly_damaging(0.471) deleterious(0.04) deleterious(0.504) superfamily_C2H2 and C2HC zinc fingers URI1 8725 genome.wustl.edu 37 19 30496322 30496322 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003796.2 +1 reviewed p.R141I 1.000 269 0% 97 49.5% 24 37.5% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Prefoldin,superfamily_Prefoldin URI1 8725 genome.wustl.edu 37 19 30499953 30499953 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003796.2 +1 reviewed p.S243F 0.997 75 0% 55 40% 41 43.9% benign(0.009) tolerated(0.21) neutral(0.044) NULL ZNF536 9745 genome.wustl.edu 37 19 30934554 30934554 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014717.1 +1 provisional p.Q29* 1.000 18 0% 16 31.2% 0 - - - - NULL TSHZ3 57616 genome.wustl.edu 37 19 31769263 31769263 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020856.2 -1 validated p.A479V 0.000 70 0% 49 44.9% 1 0% benign(0) tolerated(0.42) neutral(0.014) NULL ZNF507 22847 genome.wustl.edu 37 19 32844607 32844607 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136156.1 +1 validated p.L291M 0.746 51 0% 36 58.3% 0 - possibly_damaging(0.711) tolerated(0.11) deleterious(0.528) NULL ZNF507 22847 genome.wustl.edu 37 19 32844896 32844896 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136156.1 +1 validated p.S387I 1.000 51 0% 33 30.3% 3 66.6% benign(0.147) deleterious(0.05) neutral(0.358) NULL ZNF507 22847 genome.wustl.edu 37 19 32845539 32845539 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136156.1 +1 validated p.N601 0.991 62 0% 36 38.9% 5 40% - - - NULL TDRD12 91646 genome.wustl.edu 37 19 33222699 33222699 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001110822.1 +1 validated p.D31 0.978 272 0% 109 47.7% 0 - - - - HMMPfam_TUDOR CEP89 84902 genome.wustl.edu 37 19 33370283 33370283 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032816.3 -1 validated p.E713* 0.981 128 0% 93 39.8% 11 54.5% - - - NULL CEP89 84902 genome.wustl.edu 37 19 33457355 33457355 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032816.3 -1 validated p.G19 1.000 30 0% 18 22.2% 10 40% - - - NULL RHPN2 85415 genome.wustl.edu 37 19 33481461 33481461 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033103.4 -1 reviewed p.E587K 0.999 51 0% 39 41% 18 38.8% possibly_damaging(0.563) tolerated(0.06) deleterious(0.515) HMMSmart_PDZ,superfamily_PDZ RHPN2 85415 genome.wustl.edu 37 19 33493846 33493846 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033103.4 -1 reviewed p.A274D 1.000 94 0% 60 46.7% 10 10% probably_damaging(1) tolerated(0.55) deleterious(0.507) HMMPfam_BRO1 LRP3 4037 genome.wustl.edu 37 19 33697219 33697219 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002333.3 +1 validated p.A515T 1.000 4 0.000 7 0.571 102 37.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CEBPG 1054 genome.wustl.edu 37 19 33870503 33870503 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001806.2 +1 reviewed p.D120Y 1.000 154 0% 78 20.5% 36 16.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_BRLZ CHST8 64377 genome.wustl.edu 37 19 34180210 34180210 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127895.1 +1 validated p.S15P 0.998 15 0% 11 45.5% 0 - probably_damaging(0.99) deleterious(0.05) deleterious(0.787) NULL CHST8 64377 genome.wustl.edu 37 19 34263782 34263782 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127895.1 +1 validated p.R363 0.018 9 0.000 16 0.750 0 - - - - HMMPfam_Sulfotransfer_2 LSM14A 26065 genome.wustl.edu 37 19 34685433 34685433 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114093.1 +1 validated p.R58* 1.000 174 0% 96 19.8% 54 22.2% - - - NULL LSM14A 26065 genome.wustl.edu 37 19 34712437 34712437 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114093.1 +1 validated p.E388* 1.000 159 0% 88 46.6% 40 17.5% - - - HMMPfam_FFD_TFG UBA2 10054 genome.wustl.edu 37 19 34942896 34942896 + Silent SNP G G A rs146405147 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005499.2 +1 validated p.T294 0.956 126 0% 64 54.7% 52 46.1% - - - superfamily_MoeB UBA2 10054 genome.wustl.edu 37 19 34942993 34942993 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005499.2 +1 validated p.E327K 1.000 224 0% 89 46.1% 66 37.8% benign(0.001) tolerated(0.89) - superfamily_MoeB ZNF599 148103 genome.wustl.edu 37 19 35250162 35250162 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007248.2 -1 validated p.A515D 0.934 232 0% 103 41.7% 0 - possibly_damaging(0.683) deleterious(0.02) deleterious(0.627) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF599 148103 genome.wustl.edu 37 19 35250822 35250822 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007248.2 -1 validated p.R295H 0.030 151 0% 68 51.5% 1 0% possibly_damaging(0.934) tolerated(0.28) neutral(0.411) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF30 90075 genome.wustl.edu 37 19 35434572 35434572 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099437.1 +1 validated p.C235 0.049 87 0% 43 53.5% 2 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF792 126375 genome.wustl.edu 37 19 35449879 35449879 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175872.4 -1 validated p.A294T 0.001 162 0% 126 49.2% 6 16.6% benign(0.382) tolerated(0.38) neutral(0.140) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GRAMD1A 57655 genome.wustl.edu 37 19 35512877 35512877 + Silent SNP C C T rs180984713 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020895.3 +1 validated p.S592 0.041 24 0% 11 54.5% 81 44.4% - - - NULL FXYD5 53827 genome.wustl.edu 37 19 35655076 35655076 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014164.5 +1 reviewed p.T104A 0.373 96 0% 74 44.6% 27 3.7% possibly_damaging(0.741) tolerated(0.24) neutral(0.309) NULL FXYD5 53827 genome.wustl.edu 37 19 35655081 35655081 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014164.5 +1 reviewed p.T105 0.000 107 0% 86 45.3% 30 0% - - - NULL FAM187B 148109 genome.wustl.edu 37 19 35715902 35715902 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152481.1 -1 provisional p.N312 0.000 12 0% 12 50% 0 - - - - NULL FAM187B 148109 genome.wustl.edu 37 19 35719385 35719385 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152481.1 -1 provisional p.T67A 0.000 37 0% 45 40% 0 - benign(0.138) tolerated(0.08) neutral(0.311) NULL FFAR3 2865 genome.wustl.edu 37 19 35862822 35862822 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000246538 +1 known p.E187 1.000 25 0% 30 43.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 GAPDHS 26330 genome.wustl.edu 37 19 36024439 36024439 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014364.4 +1 reviewed p.R4C 0.974 12 0% 10 50% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL GAPDHS 26330 genome.wustl.edu 37 19 36024442 36024442 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014364.4 +1 reviewed p.D5N 0.847 12 0% 10 50% 0 - possibly_damaging(0.881) deleterious(0) deleterious(0.788) NULL MLL4 9757 genome.wustl.edu 37 19 36211135 36211135 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014727.1 +1 reviewed p.G296S 1.000 11 0% 12 41.7% 6 0% probably_damaging(0.998) tolerated(0.49) deleterious(0.485) NULL MLL4 9757 genome.wustl.edu 37 19 36212600 36212600 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014727.1 +1 reviewed p.P784L 0.622 24 0% 31 45.2% 12 25% probably_damaging(0.98) - - NULL MLL4 9757 genome.wustl.edu 37 19 36217198 36217198 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014727.1 +1 reviewed p.V1316A 0.421 22 0% 37 35.1% 17 41.1% benign(0.278) - - NULL MLL4 9757 genome.wustl.edu 37 19 36228630 36228630 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014727.1 +1 reviewed p.Q2548H 1.000 40 0% 28 14.3% 59 15.2% possibly_damaging(0.761) - - NULL MLL4 9757 genome.wustl.edu 37 19 36228800 36228800 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014727.1 +1 reviewed p.R2567C 1.000 90 1.1% 71 52.1% 48 47.9% probably_damaging(0.99) - - superfamily_SET domain MLL4 9757 genome.wustl.edu 37 19 36228979 36228979 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014727.1 +1 reviewed p.R2587* 1.000 47 0% 46 34.8% 50 42% - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain ARHGAP33 115703 genome.wustl.edu 37 19 36273546 36273546 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052948.3 +1 reviewed p.H426 0.934 15 0% 15 80% 20 70% - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP NPHS1 4868 genome.wustl.edu 37 19 36339016 36339016 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004646.3 -1 reviewed p.R456Q 0.857 18 0% 30 43.3% 0 - probably_damaging(0.993) tolerated(0.34) deleterious(0.473) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin KIRREL2 84063 genome.wustl.edu 37 19 36350483 36350483 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199180.2 +1 validated p.S208I 1.000 34 0% 26 46.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin KIRREL2 84063 genome.wustl.edu 37 19 36351560 36351560 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199180.2 +1 validated p.D307N 1.000 30 0% 22 31.8% 0 - benign(0.18) tolerated(0.32) neutral(0.041) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KIRREL2 84063 genome.wustl.edu 37 19 36355569 36355569 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199180.2 +1 validated p.D582G 0.546 100 0% 112 35.7% 0 - possibly_damaging(0.798) deleterious(0.02) deleterious(0.683) NULL TYROBP 7305 genome.wustl.edu 37 19 36398352 36398352 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198125.2 -1 reviewed p.A75 0.000 9 0.000 24 0.500 63 0% - - - NULL LRFN3 79414 genome.wustl.edu 37 19 36431523 36431523 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024509.1 +1 provisional p.P399H 1.000 5 0.000 11 0.545 22 50% benign(0.003) tolerated(0.2) neutral(0.049) NULL ALKBH6 84964 genome.wustl.edu 37 19 36501474 36501474 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032878.3 -1 validated p.E178* 0.998 15 0% 27 55.6% 27 14.8% - - - HMMPfam_2OG-FeII_Oxy ZNF146 7705 genome.wustl.edu 37 19 36727484 36727484 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099638.1 +1 validated p.E48K 0.703 189 0% 76 40.8% 39 48.7% benign(0) tolerated(0.06) neutral(0.323) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF146 7705 genome.wustl.edu 37 19 36728168 36728168 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099638.1 +1 validated p.A276T 1.000 91 0% 59 42.4% 60 48.3% probably_damaging(0.991) tolerated(0.16) deleterious(0.504) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP14 57677 genome.wustl.edu 37 19 36831910 36831910 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020917.1 -1 provisional p.R273Q 0.112 127 0% 64 50% 4 75% probably_damaging(0.995) tolerated(1) neutral(0.458) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC644189 644189 genome.wustl.edu 37 19 36913200 36913200 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_016949.3 +1 model NULL 0.921 56 0% 64 50% 0 - - - - - ZNF529 57711 genome.wustl.edu 37 19 37047073 37047073 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145649.1 -1 validated p.A14D 0.002 184 0% 75 52% 4 50% benign(0.016) - - NULL ZNF567 163081 genome.wustl.edu 37 19 37210094 37210094 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152603.2 +1 provisional p.R125 1.000 122 0% 51 43.1% 3 33.3% - - - NULL ZNF567 163081 genome.wustl.edu 37 19 37211116 37211116 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152603.2 +1 provisional p.R466Q 1.000 96 0% 57 42.1% 6 66.6% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF790 388536 genome.wustl.edu 37 19 37310117 37310117 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_206894.2 -1 validated p.R377C 0.000 88 0% 47 46.8% 8 37.5% probably_damaging(0.991) tolerated(0.19) deleterious(0.493) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF345 25850 genome.wustl.edu 37 19 37369069 37369069 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003419.3 +1 provisional p.R446K 0.996 108 0% 54 38.9% 1 0% benign(0) tolerated(0.07) neutral(0.319) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF420 147923 genome.wustl.edu 37 19 37619293 37619293 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144689.3 +1 provisional p.R467Q 0.999 171 0% 60 40% 9 55.5% probably_damaging(0.981) tolerated(0.09) deleterious(0.722) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF420 147923 genome.wustl.edu 37 19 37619782 37619782 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144689.3 +1 provisional p.L630R 0.992 159 0.6% 68 42.6% 3 33.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF420 147923 genome.wustl.edu 37 19 37619946 37619946 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144689.3 +1 provisional p.Q685* 0.080 86 0% 41 39% 1 0% - - - NULL ZNF585A 199704 genome.wustl.edu 37 19 37643363 37643363 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152655.2 -1 validated p.N425D 0.000 270 0% 138 27.5% 4 0% benign(0) tolerated(0.67) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF585B 92285 genome.wustl.edu 37 19 37677066 37677066 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152279.3 -1 validated p.R458Q 0.986 270 0% 153 42.5% 4 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF383 163087 genome.wustl.edu 37 19 37733621 37733621 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152604.1 +1 provisional p.Q161 0.992 172 0% 71 16.9% 4 25% - - - superfamily_SSF57667 HKR1 284459 genome.wustl.edu 37 19 37853662 37853662 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181786.2 +1 provisional p.T322I 0.702 44 0% 34 23.5% 19 15.7% benign(0.251) tolerated(0.37) neutral(0.044) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF527 84503 genome.wustl.edu 37 19 37879243 37879243 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032453.1 +1 validated p.P98T 0.570 67 0% 51 31.4% 3 33.3% probably_damaging(0.998) tolerated(0.45) deleterious(0.486) NULL ZNF527 84503 genome.wustl.edu 37 19 37880681 37880681 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032453.1 +1 validated p.A577D 0.556 95 0% 38 50% 1 0% probably_damaging(0.978) deleterious(0) deleterious(0.865) superfamily_C2H2 and C2HC zinc fingers ZNF570 148268 genome.wustl.edu 37 19 37974969 37974969 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144694.1 +1 provisional p.E149K 0.994 279 0% 95 44.2% 0 - possibly_damaging(0.807) tolerated(0.87) neutral(0.304) NULL ZNF570 148268 genome.wustl.edu 37 19 37975957 37975957 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144694.1 +1 provisional p.A478D 0.987 176 0% 84 38.1% 5 20% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF540 163255 genome.wustl.edu 37 19 38103615 38103615 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152606.3 +1 validated p.V478 0.000 187 0% 87 42.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP30 22835 genome.wustl.edu 37 19 38126033 38126033 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014898.2 -1 validated p.E470G 0.062 301 0% 128 43% 4 75% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP30 22835 genome.wustl.edu 37 19 38126592 38126592 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014898.2 -1 validated p.H284Y 0.805 157 0% 72 37.5% 4 25% probably_damaging(0.998) tolerated(0.5) deleterious(0.484) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP30 22835 genome.wustl.edu 37 19 38127120 38127120 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014898.2 -1 validated p.R108 0.965 122 0% 85 42.4% 3 66.6% - - - NULL ZNF607 84775 genome.wustl.edu 37 19 38189106 38189106 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032689.4 -1 validated p.G642 1.000 198 0% 108 43.5% 4 100% - - - superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38189158 38189158 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032689.4 -1 validated p.A625V 0.491 178 0% 110 41.8% 3 33.3% possibly_damaging(0.547) tolerated(0.1) deleterious(0.472) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers WDR87 83889 genome.wustl.edu 37 19 38383330 38383330 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031951.3 -1 provisional p.K966E 0.994 184 0% 101 46.5% 0 - possibly_damaging(0.794) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38384921 38384921 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031951.3 -1 provisional p.E435D 0.054 38 0% 29 37.9% 0 - benign(0.061) - - HMMSmart_SM00320,superfamily_WD40 repeat-like WDR87 83889 genome.wustl.edu 37 19 38386888 38386888 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000447313 -1 known p.F46L 0.975 92 1.1% 55 32.7% 0 - benign(0.002) - - NULL SPINT2 10653 genome.wustl.edu 37 19 38780888 38780888 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021102.3 +1 reviewed p.R174H 0.001 30 0% 19 36.8% 400 47% benign(0.02) tolerated(0.13) neutral(0.254) HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like C19orf33 64073 genome.wustl.edu 37 19 38795579 38795579 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033520.1 +1 provisional p.G99D 0.000 88 0% 69 49.3% 4 0% unknown(0) - - NULL KCNK6 9424 genome.wustl.edu 37 19 38817364 38817364 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004823.1 +1 reviewed p.V152M 0.000 15 0% 16 37.5% 21 66.6% benign(0.001) tolerated(0.17) neutral(0.059) superfamily_Voltage-gated potassium channels CATSPERG 57828 genome.wustl.edu 37 19 38850198 38850198 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021185.4 +1 validated p.A529T 0.006 33 0% 13 46.2% 0 - probably_damaging(0.979) tolerated(0.09) deleterious(0.718) NULL CATSPERG 57828 genome.wustl.edu 37 19 38858328 38858328 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021185.4 +1 validated p.L948M 0.938 89 0% 81 45.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RASGRP4 115727 genome.wustl.edu 37 19 38904060 38904060 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170604.2 -1 reviewed p.R429W 1.000 37 0% 45 42.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00147,superfamily_Ras GEF RASGRP4 115727 genome.wustl.edu 37 19 38910638 38910638 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_170604.2 -1 reviewed p.G175 0.974 20 0% 21 52.4% 1 0% - - - superfamily_Ras GEF RYR1 6261 genome.wustl.edu 37 19 38979952 38979952 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000540.2 +1 reviewed p.D1895N 0.983 72 0% 97 52.6% 0 - benign(0.003) - - NULL MAP4K1 11184 genome.wustl.edu 37 19 39087674 39087674 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007181.4 -1 validated p.R647 1.000 15 0% 19 36.8% 4 0% - - - HMMPfam_CNH,HMMSmart_CNH CAPN12 147968 genome.wustl.edu 37 19 39225504 39225504 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144691.3 -1 validated p.E565* 0.196 66 0% 59 47.5% 6 16.6% - - - superfamily_SSF47473 LGALS4 3960 genome.wustl.edu 37 19 39292533 39292533 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006149.3 -1 reviewed p.G281 0.034 47 0% 40 40% 0 - - - - HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases HNRNPL 3191 genome.wustl.edu 37 19 39327415 39327415 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001533.2 -1 reviewed p.P573T 1.000 134 0% 114 48.2% 596 46.1% benign(0.355) tolerated(0.63) neutral(0.116) superfamily_SSF54928 PAPL 390928 genome.wustl.edu 37 19 39589173 39589173 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004318.2 +1 validated p.P66L 0.055 20 0% 11 36.4% 0 - benign(0) tolerated(0.48) neutral(0.011) superfamily_Purple_Pase_N LRFN1 57622 genome.wustl.edu 37 19 39804607 39804607 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020862.1 -1 validated p.Q457R 1.000 22 0% 17 52.9% 4 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PAF1 54623 genome.wustl.edu 37 19 39876813 39876813 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019088.2 -1 provisional p.G472* 1.000 36 0% 50 42% 121 38.8% - - - NULL PLEKHG2 64857 genome.wustl.edu 37 19 39913544 39913544 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022835.2 +1 validated p.G617E 0.934 32 0% 33 24.2% 17 29.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PLEKHG2 64857 genome.wustl.edu 37 19 39913577 39913577 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022835.2 +1 validated p.S628N 0.354 23 0% 27 22.2% 23 4.3% benign(0) tolerated(0.5) neutral(0.010) NULL PLEKHG2 64857 genome.wustl.edu 37 19 39913866 39913866 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000205135 +1 known p.R592H 0.000 31 0% 17 23.5% 20 10% - - - NULL PLEKHG2 64857 genome.wustl.edu 37 19 39914566 39914566 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000205135 +1 known p.T799M 0.000 21 0% 37 48.6% 35 54.2% - - - NULL SUPT5H 6829 genome.wustl.edu 37 19 39944012 39944012 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111020.2 +1 validated p.R31Q 0.980 29 0% 38 42.1% 90 37.7% unknown(0) tolerated(0.19) - NULL SUPT5H 6829 genome.wustl.edu 37 19 39944154 39944154 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111020.2 +1 validated p.D78 0.970 69 0% 51 43.1% 57 40.3% - - - NULL SUPT5H 6829 genome.wustl.edu 37 19 39948357 39948357 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111020.2 +1 validated p.G95V 1.000 130 0% 84 39.3% 36 27.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SUPT5H 6829 genome.wustl.edu 37 19 39963546 39963546 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111020.2 +1 validated p.R711H 1.000 19 0% 14 57.1% 143 43.3% probably_damaging(0.987) deleterious(0.05) deleterious(0.782) HMMPfam_KOW,HMMSmart_SM00739,superfamily_Translation proteins SH3-like domain SUPT5H 6829 genome.wustl.edu 37 19 39965324 39965324 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111020.2 +1 validated p.V997A 1.000 21 0.000 9 0.444 156 44.2% benign(0.01) tolerated(0.11) neutral(0.272) NULL DLL3 10683 genome.wustl.edu 37 19 39989619 39989619 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016941.3 +1 reviewed p.V2A 0.251 20 0% 30 30% 0 - benign(0.003) deleterious(0) neutral(0.445) NULL EID2B 126272 genome.wustl.edu 37 19 40023134 40023134 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152361.1 -1 provisional p.S103R 0.006 5 0.000 9 0.444 1 0% possibly_damaging(0.903) tolerated(0.29) neutral(0.387) NULL LOC148003 148003 genome.wustl.edu 37 19 40149250 40149250 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001721341.1 +1 model p.V111 0.088 57 0% 31 12.9% 0 - - - - HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases LOC400696 400696 genome.wustl.edu 37 19 40172695 40172695 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207646.2 +1 validated p.I50 0.005 49 0% 44 43.2% 0 - - - - HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases FBL 2091 genome.wustl.edu 37 19 40329693 40329693 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001436.3 -1 reviewed p.V177 0.998 35 0% 39 51.3% 549 50% - - - HMMPfam_Fibrillarin,superfamily_S-adenosyl-L-methionine-dependent methyltransferases FCGBP 8857 genome.wustl.edu 37 19 40398474 40398474 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003890.2 -1 validated p.D2165Y 0.200 14 0.000 9 0.444 2 0% unknown(0) tolerated(0.06) - HMMPfam_VWD,HMMSmart_VWD FCGBP 8857 genome.wustl.edu 37 19 40412112 40412112 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003890.2 -1 validated p.C1172 0.994 6 0.000 7 0.714 1 0% - - - superfamily_Cysrich_TIL,HMMPfam_TIL FCGBP 8857 genome.wustl.edu 37 19 40433589 40433589 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003890.2 -1 validated p.S227I 1.000 16 0% 13 61.5% 0 - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL ZNF546 339327 genome.wustl.edu 37 19 40520174 40520174 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178544.3 +1 validated p.E333* 0.339 211 0% 100 45% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF780B 163131 genome.wustl.edu 37 19 40540576 40540576 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005851.2 -1 validated p.C730 1.000 96 0% 51 52.9% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40580687 40580687 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142577.1 -1 validated p.K555N 0.999 245 0% 101 39.6% 3 66.6% possibly_damaging(0.731) deleterious(0.01) deleterious(0.673) superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40580834 40580834 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142577.1 -1 validated p.E506D 0.001 134 0% 72 48.6% 1 0% benign(0) deleterious(0.04) neutral(0.349) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40580955 40580955 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142577.1 -1 validated p.R466Q 0.005 235 0% 102 48% 6 33.3% benign(0.08) tolerated(0.13) neutral(0.258) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAP3K10 4294 genome.wustl.edu 37 19 40698354 40698354 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002446.3 +1 reviewed p.A139V 0.997 12 0% 24 54.2% 16 31.2% benign(0.017) tolerated(1) neutral(0.001) superfamily_Kinase_like,HMMPfam_Pkinase AKT2 208 genome.wustl.edu 37 19 40741942 40741942 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001626.3 -1 reviewed p.M344V 1.000 21 0% 32 37.5% 58 50% benign(0) tolerated(0.06) neutral(0.323) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase AKT2 208 genome.wustl.edu 37 19 40748465 40748465 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001626.3 -1 reviewed p.A139 0.016 12 0% 18 50% 56 53.5% - - - superfamily_Kinase_like C19orf47 126526 genome.wustl.edu 37 19 40834444 40834444 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178830.2 -1 predicted p.M75I 1.000 138 0% 159 48.4% 12 41.6% probably_damaging(0.987) tolerated(0.17) deleterious(0.495) NULL HIPK4 147746 genome.wustl.edu 37 19 40889698 40889698 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144685.3 -1 provisional p.E272K 0.985 17 0% 24 58.3% 0 - benign(0.181) tolerated(0.09) neutral(0.313) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HIPK4 147746 genome.wustl.edu 37 19 40889744 40889744 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144685.3 -1 provisional p.D256 0.011 20 0% 30 33.3% 0 - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SPTBN4 57731 genome.wustl.edu 37 19 41009810 41009810 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020971.2 +1 reviewed p.A479V 0.981 8 0.000 14 0.429 0 - benign(0.006) tolerated(0.5) neutral(0.010) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN4 57731 genome.wustl.edu 37 19 41078001 41078001 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020971.2 +1 reviewed p.G2466R 0.998 26 0% 22 36.4% 0 - probably_damaging(0.964) tolerated(0.09) deleterious(0.703) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SHKBP1 92799 genome.wustl.edu 37 19 41092803 41092803 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138392.3 +1 validated p.R430H 1.000 10 0% 24 37.5% 77 44.1% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00320,superfamily_WD40 repeat-like LTBP4 8425 genome.wustl.edu 37 19 41119372 41119372 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000308370 +1 known p.G899S 1.000 20 0% 28 42.9% 20 35% probably_damaging(1) tolerated(0.08) deleterious(0.800) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 ITPKC 80271 genome.wustl.edu 37 19 41242949 41242949 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025194.2 +1 reviewed p.T578I 0.990 55 0% 40 42.5% 15 40% benign(0.296) tolerated(0.19) neutral(0.141) HMMPfam_IPK,superfamily_SSF56104 C19orf54 284325 genome.wustl.edu 37 19 41255386 41255386 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198476.3 -1 validated p.R108Q 1.000 16 0% 21 42.9% 5 0% probably_damaging(0.989) deleterious(0.05) deleterious(0.785) NULL SNRPA 6626 genome.wustl.edu 37 19 41268930 41268930 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004596.4 +1 reviewed p.A184V 1.000 10 0.000 7 0.571 185 41% possibly_damaging(0.454) tolerated(0.24) neutral(0.186) NULL MIA 8190 genome.wustl.edu 37 19 41281666 41281666 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006533.2 +1 validated p.S46F 1.000 43 0% 47 34% 5 60% probably_damaging(1) tolerated(0.66) deleterious(0.502) HMMSmart_SM00326,superfamily_SH3-domain CYP2B7P1 1556 genome.wustl.edu 37 19 41447247 41447247 + RNA SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_001278.1 +1 provisional NULL 0.993 86 0% 58 37.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) - CYP2B6 1555 genome.wustl.edu 37 19 41512847 41512847 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000767.4 +1 reviewed p.I174 0.004 121 0% 88 40.9% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP2B6 1555 genome.wustl.edu 37 19 41518256 41518256 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000767.4 +1 reviewed p.L340F 0.008 88 0% 50 10% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2B6 1555 genome.wustl.edu 37 19 41518328 41518328 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000767.4 +1 reviewed p.P364S 0.972 106 0% 47 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2B6 1555 genome.wustl.edu 37 19 41518600 41518600 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000767.4 +1 reviewed p.L392M 0.969 189 0.5% 94 48.9% 0 - possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2B6 1555 genome.wustl.edu 37 19 41522580 41522580 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000767.4 +1 reviewed p.A442T 0.988 32 0% 24 50% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2F1 1572 genome.wustl.edu 37 19 41627442 41627442 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000774.3 +1 reviewed p.F188 1.000 42 0% 41 68.3% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP2S1 29785 genome.wustl.edu 37 19 41703707 41703707 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030622.6 +1 reviewed p.R123W 0.963 44 0% 42 42.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 HNRNPUL1 11100 genome.wustl.edu 37 19 41798372 41798372 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007040.3 +1 reviewed p.R408C 1.000 102 0% 76 35.5% 235 43.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EXOSC5 56915 genome.wustl.edu 37 19 41898806 41898806 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020158.3 -1 validated p.L76 0.976 26 0% 28 17.9% 47 14.8% - - - HMMPfam_RNase_PH,superfamily_Ribosomal_S5_D2-typ_fold CEACAM5 1048 genome.wustl.edu 37 19 42221378 42221378 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000398599 +1 known p.A317T 0.000 117 0% 88 17% 2 0% - - - superfamily_Immunoglobulin CEACAM6 4680 genome.wustl.edu 37 19 42260796 42260796 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002483.4 +1 validated p.G118E 0.001 359 0% 227 36.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CEACAM6 4680 genome.wustl.edu 37 19 42265156 42265156 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002483.4 +1 validated e3-1 0.563 64 0% 53 37.7% 0 - - - - - CEACAM6 4680 genome.wustl.edu 37 19 42265897 42265897 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002483.4 +1 validated p.I242V 0.018 129 0% 81 42% 3 33.3% benign(0.316) deleterious(0.01) deleterious(0.505) superfamily_Immunoglobulin DMRTC2 63946 genome.wustl.edu 37 19 42353287 42353287 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040283.1 +1 validated p.S240P 0.988 86 0% 66 42.4% 0 - possibly_damaging(0.803) deleterious(0) deleterious(0.747) NULL ARHGEF1 9138 genome.wustl.edu 37 19 42398354 42398354 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199002.1 +1 reviewed p.S255L 0.977 28 0% 28 42.9% 36 44.4% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL ATP1A3 478 genome.wustl.edu 37 19 42471157 42471157 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000441343 -1 known p.S1086Y 0.907 54 0% 36 50% 1 100% unknown(0) - - NULL ATP1A3 478 genome.wustl.edu 37 19 42473005 42473005 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152296.3 -1 reviewed p.V917 1.000 10 0% 18 44.4% 0 - - - - HMMPfam_Cation_ATPase_C,superfamily_SSF81665 GRIK5 2901 genome.wustl.edu 37 19 42561105 42561105 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002088.3 -1 reviewed p.A238V 1.000 73 1.4% 45 33.3% 0 - benign(0.024) tolerated(0.52) neutral(0.010) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIK5 2901 genome.wustl.edu 37 19 42566665 42566665 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002088.3 -1 reviewed p.A161 1.000 30 0% 17 23.5% 1 0% - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I DEDD2 162989 genome.wustl.edu 37 19 42719335 42719335 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133328.2 -1 provisional p.R133H 0.638 26 0% 24 41.7% 13 53.8% possibly_damaging(0.845) tolerated(0.17) neutral(0.383) NULL CIC 23152 genome.wustl.edu 37 19 42793224 42793224 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015125.3 +1 validated p.A372 0.471 7 0.000 6 0.667 28 39.2% - - - NULL CIC 23152 genome.wustl.edu 37 19 42794092 42794092 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015125.3 +1 validated p.E485* 0.995 24 0% 33 36.4% 45 35.5% - - - NULL MEGF8 1954 genome.wustl.edu 37 19 42867212 42867212 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001410.2 +1 validated p.R1957H 1.000 24 0% 38 39.5% 21 47.6% probably_damaging(0.956) tolerated(0.08) deleterious(0.700) NULL CEACAM8 1088 genome.wustl.edu 37 19 43093724 43093724 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001816.3 -1 validated p.G196 0.480 267 0% 155 47.7% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSG3 5671 genome.wustl.edu 37 19 43242981 43242981 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021016.3 -1 validated p.I109V 0.051 390 0.3% 226 41.2% 0 - possibly_damaging(0.489) deleterious(0.01) deleterious(0.568) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 PSG1 5669 genome.wustl.edu 37 19 43372373 43372373 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006905.2 -1 validated p.P375T 0.001 358 0% 180 49.4% 0 - benign(0) tolerated(0.05) neutral(0.345) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSG1 5669 genome.wustl.edu 37 19 43382342 43382342 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006905.2 -1 validated p.V51 0.150 468 0% 269 43.9% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ENSG00000204933 0 genome.wustl.edu 37 19 43883202 43883202 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000378007 -1 known p.C25* 0.116 28 0% 24 62.5% 0 - - - - HMMPfam_UPAR_LY6 ETHE1 23474 genome.wustl.edu 37 19 44015657 44015657 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014297.3 -1 reviewed p.D146G 1.000 19 0% 19 47.4% 71 42.2% benign(0.047) tolerated(0.17) neutral(0.062) HMMPfam_Lactamase_B,superfamily_SSF56281 XRCC1 7515 genome.wustl.edu 37 19 44047793 44047793 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006297.2 -1 reviewed p.A587T 0.938 127 0% 92 44.6% 73 45.2% possibly_damaging(0.916) tolerated(0.41) neutral(0.382) HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain PLAUR 5329 genome.wustl.edu 37 19 44160690 44160690 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002659.2 -1 reviewed p.R138H 0.056 55 0% 51 25.5% 24 20.8% possibly_damaging(0.894) tolerated(0.07) deleterious(0.671) HMMSmart_SM00134,PatternScan_LY6_UPAR,superfamily_Snake toxin-like SMG9 56006 genome.wustl.edu 37 19 44251687 44251687 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019108.2 -1 validated p.V165 0.984 41 0% 35 51.4% 13 46.1% - - - NULL ZNF283 284349 genome.wustl.edu 37 19 44351433 44351433 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181845.1 +1 validated p.R227I 0.998 82 0% 36 33.3% 2 0% probably_damaging(0.972) tolerated(0.1) deleterious(0.700) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF404 342908 genome.wustl.edu 37 19 44377407 44377407 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001033719.2 -1 validated p.S320N 0.986 139 0% 58 41.4% 1 0% possibly_damaging(0.85) deleterious(0) deleterious(0.772) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF224 7767 genome.wustl.edu 37 19 44605025 44605025 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013398.2 +1 validated p.Q29 0.999 238 0% 163 49.7% 10 30% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF224 7767 genome.wustl.edu 37 19 44612125 44612125 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013398.2 +1 validated p.G604 0.115 141 0% 88 42% 14 42.8% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF234 10780 genome.wustl.edu 37 19 44660560 44660560 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144824.1 +1 validated p.S131T 0.000 69 0% 52 40.4% 0 - benign(0) tolerated(0.46) neutral(0.012) NULL ZNF226 7769 genome.wustl.edu 37 19 44681628 44681628 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001032372.1 +1 validated p.R738Q 0.617 291 0.3% 169 46.2% 9 100% probably_damaging(0.992) tolerated(0.58) neutral(0.453) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF229 7772 genome.wustl.edu 37 19 44933946 44933946 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014518.2 -1 validated p.R337H 0.000 49 2% 34 47.1% 0 - benign(0) tolerated(0.57) neutral(0.006) NULL ZNF180 7733 genome.wustl.edu 37 19 44980824 44980824 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013256.3 -1 validated p.R625I 0.994 280 0% 149 38.3% 4 50% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44980992 44980992 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013256.3 -1 validated p.R569I 1.000 253 0% 141 49.6% 7 57.1% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44981328 44981328 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013256.3 -1 validated p.R457I 1.000 203 0% 104 45.2% 10 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44982220 44982220 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013256.3 -1 validated p.D160Y 0.006 360 0.3% 193 46.1% 5 0% possibly_damaging(0.66) deleterious(0.03) deleterious(0.598) NULL PVR 5817 genome.wustl.edu 37 19 45161149 45161149 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006505.3 +1 reviewed p.R321H 0.002 24 0% 20 45% 32 50% benign(0.06) tolerated(0.26) neutral(0.038) HMMSmart_SM00409,superfamily_Immunoglobulin CEACAM16 388551 genome.wustl.edu 37 19 45211156 45211156 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039213.2 +1 validated p.V381M 1.000 11 0.000 7 0.857 0 - probably_damaging(0.995) tolerated(0.11) deleterious(0.729) HMMPfam_V-set,superfamily_SSF48726 CEACAM16 388551 genome.wustl.edu 37 19 45211328 45211328 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039213.2 +1 validated p.R438Q 1.000 8 0.000 12 0.750 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 PVRL2 5819 genome.wustl.edu 37 19 45381610 45381610 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002856.2 +1 reviewed p.R391 1.000 8 0.000 11 0.455 48 47.9% - - - NULL PVRL2 5819 genome.wustl.edu 37 19 45389419 45389419 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042724.1 +1 reviewed p.S430 0.866 21 0% 30 43.3% 29 65.5% - - - NULL PVRL2 5819 genome.wustl.edu 37 19 45391557 45391557 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042724.1 +1 reviewed p.Y513C 0.972 79 0% 71 12.7% 18 11.1% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL APOE 348 genome.wustl.edu 37 19 45411112 45411112 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000041.2 +1 reviewed p.A47T 0.187 7 0.000 6 0.667 167 3.5% benign(0.134) tolerated(0.43) neutral(0.025) superfamily_Apolipoprotein RELB 5971 genome.wustl.edu 37 19 45537543 45537543 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006509.2 +1 validated p.D417N 0.635 23 0% 25 44% 34 32.3% possibly_damaging(0.84) tolerated(0.12) deleterious(0.582) superfamily_Ig_E-set CLASRP 11129 genome.wustl.edu 37 19 45561077 45561077 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007056.2 +1 validated p.A178 0.000 56 0% 48 43.8% 44 45.4% - - - NULL CKM 1158 genome.wustl.edu 37 19 45810897 45810897 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001824.2 -1 reviewed p.I263 1.000 33 0% 25 44% 2 0% - - - HMMPfam_ATP-gua_Ptrans,superfamily_SSF55931 PPP1R13L 10848 genome.wustl.edu 37 19 45883481 45883481 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142502.1 -1 validated p.F818 1.000 103 0% 67 44.8% 70 60% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain RTN2 6253 genome.wustl.edu 37 19 45998141 45998141 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005619.3 -1 reviewed p.A68T 1.000 5 0.000 11 0.455 1 0% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL MIR642A 693227 genome.wustl.edu 37 19 46178240 46178240 + RNA SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000385039 +1 known NULL 0.000 43 0% 41 24.4% 0 - - - - - GIPR 2696 genome.wustl.edu 37 19 46180978 46180978 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000164.2 +1 validated p.R289C 0.999 63 0% 68 47.1% 0 - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_7tm_2 SIX5 147912 genome.wustl.edu 37 19 46269097 46269097 + Missense_Mutation SNP T T A rs186636782 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175875.4 -1 reviewed p.T628S 0.000 10 0% 14 35.7% 19 52.6% benign(0.045) deleterious(0.01) neutral(0.408) NULL SIX5 147912 genome.wustl.edu 37 19 46269107 46269107 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175875.4 -1 reviewed p.P624 0.000 12 0% 13 38.5% 24 45.8% - - - NULL SIX5 147912 genome.wustl.edu 37 19 46269183 46269183 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175875.4 -1 reviewed p.G599V 0.764 16 0% 21 66.7% 23 65.2% benign(0.003) deleterious(0) neutral(0.445) NULL DMWD 1762 genome.wustl.edu 37 19 46289692 46289692 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004943.1 -1 validated p.S354 1.000 10 0% 10 70% 21 52.3% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 RSPH6A 81492 genome.wustl.edu 37 19 46318389 46318389 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030785.3 -1 reviewed p.P16S 0.000 6 0.000 9 0.444 0 - benign(0.001) deleterious(0) neutral(0.445) NULL SYMPK 8189 genome.wustl.edu 37 19 46352084 46352084 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004819.2 -1 reviewed p.L117R 1.000 102 0% 74 32.4% 45 48.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat NOVA2 4858 genome.wustl.edu 37 19 46457193 46457193 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002516.2 -1 validated p.R81W 0.994 113 0% 104 36.5% 1 0% unknown(0) deleterious(0) - HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 CCDC61 729440 genome.wustl.edu 37 19 46506288 46506288 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080402.1 +1 provisional p.P61 0.352 31 0% 39 35.9% 4 25% - - - NULL CCDC61 729440 genome.wustl.edu 37 19 46521626 46521626 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080402.1 +1 provisional p.R526Q 0.637 13 0% 14 35.7% 9 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MIR769 768217 genome.wustl.edu 37 19 46522269 46522269 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390225 +1 known NULL 0.951 51 0% 44 40.9% 0 - - - - - HIF3A 64344 genome.wustl.edu 37 19 46823750 46823750 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152795.2 +1 reviewed p.H359R 0.574 17 0% 16 31.2% 0 - possibly_damaging(0.918) tolerated(0.34) neutral(0.392) NULL PPP5C 5536 genome.wustl.edu 37 19 46878959 46878959 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006247.2 +1 provisional p.G154 0.947 33 0% 20 50% 76 48.6% - - - HMMPfam_PPP5 CCDC8 83987 genome.wustl.edu 37 19 46914608 46914608 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032040.3 -1 validated p.S487L 0.263 22 0% 32 37.5% 8 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CCDC8 83987 genome.wustl.edu 37 19 46914732 46914732 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032040.3 -1 validated p.A446T 1.000 47 0% 38 34.2% 11 18.1% probably_damaging(0.986) tolerated(0.45) neutral(0.447) NULL ENSG00000248985 0 genome.wustl.edu 37 19 46971526 46971526 + RNA SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000503237 +1 novel NULL 0.000 5 0.000 8 0.625 8 50% - - - - DACT3 147906 genome.wustl.edu 37 19 47151980 47151980 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145056.2 -1 validated p.S550L 1.000 6 0.000 5 1.000 1 100% benign(0.202) deleterious(0) neutral(0.464) NULL PRKD2 25865 genome.wustl.edu 37 19 47181765 47181765 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079880.1 -1 reviewed p.Y742 0.993 23 0% 31 35.5% 110 44.5% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PRKD2 25865 genome.wustl.edu 37 19 47204103 47204103 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001079880.1 -1 reviewed p.A358 0.946 11 0% 19 47.4% 38 63.1% - - - NULL STRN4 29888 genome.wustl.edu 37 19 47223927 47223927 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039877.1 -1 validated p.A739T 1.000 15 0% 19 47.4% 218 44.9% possibly_damaging(0.926) tolerated(0.06) deleterious(0.697) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SLC1A5 6510 genome.wustl.edu 37 19 47282001 47282001 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005628.2 -1 validated p.R330H 1.000 70 0% 40 12.5% 33 3% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_SDF ARHGAP35 2909 genome.wustl.edu 37 19 47422257 47422257 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004491.4 +1 reviewed p.R109* 1.000 47 0% 43 37.2% 16 43.7% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGAP35 2909 genome.wustl.edu 37 19 47423986 47423986 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004491.4 +1 reviewed p.T685M 0.999 62 0% 34 44.1% 15 46.6% possibly_damaging(0.884) deleterious(0.01) deleterious(0.750) NULL ARHGAP35 2909 genome.wustl.edu 37 19 47424156 47424156 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004491.4 +1 reviewed p.Y742H 1.000 155 0% 89 43.8% 34 52.9% possibly_damaging(0.751) tolerated(0.27) neutral(0.309) NULL ARHGAP35 2909 genome.wustl.edu 37 19 47424604 47424604 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004491.4 +1 reviewed p.G891D 0.493 132 0% 89 41.6% 25 36% benign(0.124) deleterious(0.01) neutral(0.416) NULL ARHGAP35 2909 genome.wustl.edu 37 19 47424605 47424605 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004491.4 +1 reviewed p.G891 0.361 129 0% 88 14.8% 24 29.1% - - - NULL ARHGAP35 2909 genome.wustl.edu 37 19 47425583 47425583 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004491.4 +1 reviewed p.N1217 0.991 33 0% 27 51.9% 35 54.2% - - - NULL ZC3H4 23211 genome.wustl.edu 37 19 47597782 47597782 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015168.1 -1 validated p.S82N 1.000 364 0% 306 12.7% 12 16.6% unknown(0) tolerated(0.27) - NULL LOC100287311 100287311 genome.wustl.edu 37 19 47823235 47823235 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343688.1 -1 model p.L97F 0.000 49 0% 48 39.6% 2 0% - - - NULL DHX34 9704 genome.wustl.edu 37 19 47880359 47880359 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014681.5 +1 reviewed p.D868N 0.809 16 0% 21 42.9% 27 44.4% benign(0) tolerated(0.6) neutral(0.004) HMMPfam_DUF1605 SLC8A2 6543 genome.wustl.edu 37 19 47935523 47935523 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015063.2 -1 validated p.A764T 1.000 17 0% 36 47.2% 0 - possibly_damaging(0.898) deleterious(0.02) deleterious(0.738) HMMPfam_Na_Ca_ex KPTN 11133 genome.wustl.edu 37 19 47980092 47980092 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007059.2 -1 validated p.R323W 0.121 13 0% 16 62.5% 16 50% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL ZNF541 84215 genome.wustl.edu 37 19 48047910 48047910 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101419.1 -1 validated p.R626C 0.994 7 0.000 12 0.417 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF541 84215 genome.wustl.edu 37 19 48052662 48052662 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101419.1 -1 validated p.R130W 1.000 86 1.2% 63 49.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TPRX1 284355 genome.wustl.edu 37 19 48305551 48305551 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198479.2 -1 validated p.I239 0.000 39 0% 47 38.3% 0 - - - - NULL SULT2A1 6822 genome.wustl.edu 37 19 48389436 48389436 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003167.3 -1 reviewed p.R27C 0.000 331 0.3% 143 51.7% 0 - benign(0.192) tolerated(0.2) neutral(0.067) superfamily_P-loop containing nucleoside triphosphate hydrolases PLA2G4C 8605 genome.wustl.edu 37 19 48558205 48558205 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003706.2 -1 reviewed p.C453 0.458 61 0% 42 52.4% 2 0% - - - HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase ENSG00000250291 0 genome.wustl.edu 37 19 48603163 48603163 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000503308 +1 novel NULL 0.000 27 0% 27 37% 0 - - - - - LIG1 3978 genome.wustl.edu 37 19 48653361 48653361 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000234.1 -1 reviewed p.T227 0.009 67 0% 50 36% 23 39.1% - - - NULL LIG1 3978 genome.wustl.edu 37 19 48654559 48654559 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000234.1 -1 reviewed p.E168D 0.001 102 0% 78 35.9% 27 55.5% probably_damaging(0.996) tolerated(0.16) deleterious(0.521) NULL ZNF114 163071 genome.wustl.edu 37 19 48789288 48789288 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153608.1 +1 provisional p.C136Y 0.000 62 0% 40 47.5% 5 40% benign(0.337) tolerated(0.12) neutral(0.366) NULL ZNF114 163071 genome.wustl.edu 37 19 48789873 48789873 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153608.1 +1 provisional p.P331L 0.815 149 0% 106 44.3% 1 100% probably_damaging(0.981) tolerated(0.81) neutral(0.426) superfamily_C2H2 and C2HC zinc fingers TMEM143 55260 genome.wustl.edu 37 19 48866783 48866783 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018273.2 -1 provisional p.R10Q 0.000 5 0.000 11 0.455 1 0% benign(0) tolerated(0.38) neutral(0.018) NULL KDELR1 10945 genome.wustl.edu 37 19 48887509 48887509 + Missense_Mutation SNP G G T rs117156037 byFrequency;by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006801.2 -1 reviewed p.F194L 1.000 20 0% 30 56.7% 342 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GRWD1 83743 genome.wustl.edu 37 19 48950007 48950007 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031485.3 +1 validated p.E125D 0.979 82 0% 61 44.3% 21 42.8% benign(0) tolerated(0.82) neutral(0.001) superfamily_WD40 repeat-like CYTH2 9266 genome.wustl.edu 37 19 48977463 48977463 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017457.4 +1 reviewed p.A191V 0.998 11 0% 26 57.7% 107 45.7% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain CYTH2 9266 genome.wustl.edu 37 19 48981353 48981353 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017457.4 +1 reviewed p.R280H 1.000 14 0% 20 25% 88 53.4% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SULT2B1 6820 genome.wustl.edu 37 19 49094988 49094988 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_177973.1 +1 reviewed p.G182 0.995 23 0% 27 51.9% 12 0% - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM83E 54854 genome.wustl.edu 37 19 49104612 49104612 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017708.3 -1 validated p.W397* 1.000 28 0% 21 28.6% 1 100% - - - NULL SPHK2 56848 genome.wustl.edu 37 19 49132505 49132505 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020126.3 +1 provisional p.A480 0.002 22 0% 16 25% 14 35.7% - - - NULL IZUMO1 284359 genome.wustl.edu 37 19 49245500 49245500 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182575.2 -1 validated p.A189V 0.000 83 0% 83 50.6% 0 - benign(0.003) tolerated(0.72) neutral(0.002) superfamily_Immunoglobulin FGF21 26291 genome.wustl.edu 37 19 49259628 49259628 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019113.2 +1 reviewed p.R45 0.388 16 0% 20 25% 0 - - - - HMMPfam_FGF,HMMSmart_FGF,superfamily_Cytok_IL1_like BCAT2 587 genome.wustl.edu 37 19 49303279 49303279 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001190.3 -1 reviewed p.G164S 0.553 10 0.000 8 0.625 27 51.8% benign(0) tolerated(0.29) neutral(0.029) HMMPfam_Aminotran_4,superfamily_D-aminoacid aminotransferase-like PLP-dependent enzymes NUCB1 4924 genome.wustl.edu 37 19 49416383 49416383 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000424608 +1 known p.E169* 1.000 66 0% 58 25.9% 190 31.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DHDH 27294 genome.wustl.edu 37 19 49438307 49438307 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014475.3 +1 reviewed p.Q47H 0.000 13 0% 11 36.4% 2 50% benign(0.067) deleterious(0.01) neutral(0.410) HMMPfam_GFO_IDH_MocA,superfamily_NAD(P)-bd GYS1 2997 genome.wustl.edu 37 19 49477532 49477532 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002103.4 -1 reviewed p.F496C 1.000 29 0% 17 35.3% 74 48.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycogen_syn,superfamily_SSF53756 GYS1 2997 genome.wustl.edu 37 19 49496329 49496329 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002103.4 -1 reviewed p.G14E 1.000 38 0% 28 39.3% 53 60.3% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL TEAD2 8463 genome.wustl.edu 37 19 49863247 49863247 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003598.1 -1 provisional p.G29D 0.998 14 0% 19 36.8% 8 62.5% probably_damaging(0.989) tolerated(0.62) neutral(0.444) HMMPfam_TEA SLC17A7 57030 genome.wustl.edu 37 19 49937253 49937253 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020309.3 -1 reviewed p.Q230* 1.000 13 0% 13 53.8% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ALDH16A1 126133 genome.wustl.edu 37 19 49965083 49965083 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000433981 +1 known p.R262Q 0.000 10 0% 12 66.7% 0 - - - - superfamily_ALDH-like RPS11 6205 genome.wustl.edu 37 19 50002863 50002863 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001015.3 +1 reviewed p.G150S 0.997 7 0.000 13 0.385 3810 41.7% benign(0.001) tolerated(0.2) neutral(0.049) superfamily_Nucleic acid-binding proteins NOSIP 51070 genome.wustl.edu 37 19 50062165 50062165 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015953.3 -1 provisional p.R83W 1.000 74 0% 73 46.6% 122 45% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF57850 RRAS 6237 genome.wustl.edu 37 19 50138848 50138848 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006270.3 -1 provisional p.P214 1.000 28 0% 28 53.6% 65 33.8% - - - HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases CPT1C 126129 genome.wustl.edu 37 19 50210803 50210803 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152359.1 +1 provisional p.V458I 0.971 72 0% 61 47.5% 9 44.4% benign(0.002) tolerated(0.49) neutral(0.011) HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_2,superfamily_CoA-dependent acyltransferases AP2A1 160 genome.wustl.edu 37 19 50298988 50298988 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014203.2 +1 reviewed p.P269 0.001 31 0% 46 15.2% 42 11.9% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat AP2A1 160 genome.wustl.edu 37 19 50303356 50303356 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014203.2 +1 reviewed p.I468 0.999 19 0% 22 27.3% 98 37.7% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat ATF5 22809 genome.wustl.edu 37 19 50436128 50436128 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012068.4 +1 validated p.R210C 1.000 27 0% 21 33.3% 28 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BRLZ,HMMPfam_bZIP_1 ATF5 22809 genome.wustl.edu 37 19 50436159 50436159 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012068.4 +1 validated p.S220L 0.999 23 0% 13 61.5% 39 23% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) HMMSmart_BRLZ,HMMPfam_bZIP_1 VRK3 51231 genome.wustl.edu 37 19 50498121 50498121 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016440.3 -1 reviewed p.P274S 0.046 16 0% 13 38.5% 28 64.2% possibly_damaging(0.952) tolerated(0.77) neutral(0.397) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ZNF473 25888 genome.wustl.edu 37 19 50548147 50548147 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006656.1 +1 validated p.S149 0.000 51 0% 40 55% 5 80% - - - NULL ZNF473 25888 genome.wustl.edu 37 19 50549816 50549816 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006656.1 +1 validated p.E706K 0.346 72 0% 55 47.3% 5 0% probably_damaging(0.983) deleterious(0.04) deleterious(0.778) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MYH14 79784 genome.wustl.edu 37 19 50775844 50775844 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077186.1 +1 reviewed p.R1075H 1.000 15 0% 20 50% 24 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL POLD1 5424 genome.wustl.edu 37 19 50917040 50917040 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002691.2 +1 validated p.G764 0.178 27 0% 20 25% 53 15% - - - HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_SSF56672 ASPDH 554235 genome.wustl.edu 37 19 51017052 51017052 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114598.1 -1 validated p.G10D 0.751 32 0% 31 38.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-bd LRRC4B 94030 genome.wustl.edu 37 19 51022595 51022595 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080457.1 -1 provisional p.I125 1.000 15 0% 13 38.5% 0 - - - - HMMPfam_LRR_1,superfamily_SSF52058 SYT3 84258 genome.wustl.edu 37 19 51129184 51129184 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032298.2 -1 validated p.L458I 1.000 42 0% 38 34.2% 0 - possibly_damaging(0.907) deleterious(0) deleterious(0.805) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SYT3 84258 genome.wustl.edu 37 19 51136012 51136012 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032298.2 -1 validated p.G69C 1.000 45 0% 40 22.5% 2 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL KLK4 9622 genome.wustl.edu 37 19 51413934 51413934 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004917.3 -1 reviewed p.G21* 0.998 80 0% 67 41.8% 0 - - - - NULL KLK6 5653 genome.wustl.edu 37 19 51470537 51470537 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012964.1 -1 reviewed p.D29N 0.000 42 0% 39 38.5% 0 - benign(0) tolerated(0.49) neutral(0.011) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK8 11202 genome.wustl.edu 37 19 51503344 51503344 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144505.1 -1 reviewed p.S179Y 0.001 60 0% 53 49.1% 0 - benign(0.126) tolerated(0.18) neutral(0.067) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys KLK11 11012 genome.wustl.edu 37 19 51527315 51527315 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144947.1 -1 reviewed p.T182M 1.000 12 0% 15 26.7% 22 45.4% possibly_damaging(0.685) deleterious(0) deleterious(0.689) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK12 43849 genome.wustl.edu 37 19 51537370 51537370 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019598.2 -1 reviewed p.K21N 0.691 16 0% 21 47.6% 0 - unknown(0) - - HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SIGLEC7 27036 genome.wustl.edu 37 19 51645721 51645721 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014385.2 +1 validated p.S32N 0.000 39 0% 45 42.2% 0 - benign(0.004) tolerated(0.17) neutral(0.059) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin VSIG10L 147645 genome.wustl.edu 37 19 51837448 51837448 + Missense_Mutation SNP G G A rs181926303 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000335624 -1 known p.R361C 0.001 14 0% 13 30.8% 1 100% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL VSIG10L 147645 genome.wustl.edu 37 19 51841219 51841219 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000335624 -1 known p.A213V 0.929 39 0% 26 57.7% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_Immunoglobulin NKG7 4818 genome.wustl.edu 37 19 51875060 51875060 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005601.3 -1 validated p.G157S 0.000 63 0% 66 13.6% 19 0% benign(0) tolerated(0.65) neutral(0.003) NULL SIGLEC12 89858 genome.wustl.edu 37 19 52004982 52004982 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053003.2 -1 reviewed p.L2 0.347 24 0% 24 41.7% 0 - - - - NULL ZNF175 7728 genome.wustl.edu 37 19 52091152 52091152 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007147.2 +1 validated p.K523R 1.000 110 0% 40 65% 5 20% benign(0.012) tolerated(0.75) neutral(0.002) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SIGLEC5 8778 genome.wustl.edu 37 19 52129344 52129344 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003830.2 -1 validated p.A469T 0.000 144 0% 83 60.2% 0 - benign(0.128) tolerated(0.5) neutral(0.021) NULL FPR1 2357 genome.wustl.edu 37 19 52249968 52249968 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002029.3 -1 validated p.G94S 1.000 61 0% 43 53.5% 2 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF613 79898 genome.wustl.edu 37 19 52443540 52443540 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031721.3 +1 validated p.L32M 1.000 86 0% 45 42.2% 8 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF613 79898 genome.wustl.edu 37 19 52443578 52443578 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031721.3 +1 validated p.L44 0.976 90 0% 52 42.3% 11 18.1% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF350 59348 genome.wustl.edu 37 19 52468408 52468408 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021632.3 -1 validated p.K433T 0.000 87 0% 43 44.2% 5 40% benign(0) tolerated(0.16) neutral(0.059) NULL ZNF350 59348 genome.wustl.edu 37 19 52469194 52469194 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021632.3 -1 validated p.R171Q 0.001 295 0% 154 42.2% 8 37.5% benign(0.001) tolerated(0.63) neutral(0.004) NULL ZNF615 284370 genome.wustl.edu 37 19 52496175 52496175 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198480.2 -1 provisional p.A718 0.001 283 0% 139 49.6% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF615 284370 genome.wustl.edu 37 19 52505077 52505077 + Missense_Mutation SNP C C T rs187580863 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198480.2 -1 provisional p.R76Q 0.000 218 0.5% 125 41.6% 1 100% benign(0) tolerated(1) - NULL ZNF614 80110 genome.wustl.edu 37 19 52519532 52519532 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025040.3 -1 validated p.R440H 0.000 185 0% 92 41.3% 1 100% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000249246 0 genome.wustl.edu 37 19 52562238 52562238 + RNA SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000514408 -1 known NULL 0.001 152 0% 55 32.7% 1 0% - - - - ZNF841 284371 genome.wustl.edu 37 19 52568528 52568528 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136499.1 -1 validated p.R869 0.226 379 0% 219 38.4% 14 42.8% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF841 284371 genome.wustl.edu 37 19 52569465 52569465 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136499.1 -1 validated p.S557L 0.000 153 0% 78 39.7% 9 33.3% possibly_damaging(0.658) tolerated(0.34) neutral(0.256) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52658333 52658333 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102657.1 -1 provisional p.G868D 0.706 342 0% 173 43.4% 4 50% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52658529 52658529 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102657.1 -1 provisional p.E803K 1.000 109 0% 73 41.1% 8 25% benign(0.088) tolerated(0.12) neutral(0.267) superfamily_SSF57667 ZNF766 90321 genome.wustl.edu 37 19 52793541 52793541 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010851.2 +1 validated p.N166T 0.000 116 0% 86 51.2% 6 33.3% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) superfamily_C2H2 and C2HC zinc fingers ZNF766 90321 genome.wustl.edu 37 19 52794170 52794170 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010851.2 +1 validated p.N376H 0.015 131 0% 93 43% 5 20% benign(0) deleterious(0) neutral(0.445) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF766 90321 genome.wustl.edu 37 19 52794310 52794310 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010851.2 +1 validated p.Q422 0.000 204 0% 103 48.5% 11 36.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52817507 52817507 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144684.2 +1 validated p.E58D 1.000 143 0% 73 35.6% 9 22.2% probably_damaging(0.973) tolerated(0.07) deleterious(0.734) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF610 162963 genome.wustl.edu 37 19 52869134 52869134 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173530.2 +1 validated p.S168Y 0.018 136 0% 92 45.7% 4 100% benign(0.001) tolerated(1) - NULL ZNF880 400713 genome.wustl.edu 37 19 52887393 52887393 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145434.1 +1 validated p.N187I 0.009 103 0% 64 42.2% 2 100% possibly_damaging(0.722) tolerated(0.12) deleterious(0.522) superfamily_C2H2 and C2HC zinc fingers ZNF528 84436 genome.wustl.edu 37 19 52919387 52919387 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032423.2 +1 validated p.R428* 0.000 160 0% 86 51.2% 5 60% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF534 147658 genome.wustl.edu 37 19 52937243 52937243 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143939.1 +1 validated p.F17L 0.999 192 0% 134 38.1% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF534 147658 genome.wustl.edu 37 19 52941730 52941730 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143939.1 +1 validated p.S352 0.000 131 0% 73 32.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF534 147658 genome.wustl.edu 37 19 52941915 52941915 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143939.1 +1 validated p.R414M 0.001 125 0% 74 43.2% 0 - possibly_damaging(0.945) deleterious(0.02) deleterious(0.772) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF534 147658 genome.wustl.edu 37 19 52942328 52942328 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143939.1 +1 validated p.R552* 0.000 138 0% 94 37.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF701 55762 genome.wustl.edu 37 19 53085969 53085969 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018260.2 +1 validated p.E219 0.546 151 0% 87 39.1% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF83 55769 genome.wustl.edu 37 19 53117024 53117024 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105549.1 -1 validated p.V265A 0.002 122 0% 29 17.2% 32 3.1% benign(0.005) tolerated(0.08) neutral(0.300) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF600 162966 genome.wustl.edu 37 19 53270300 53270300 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198457.2 -1 validated p.R237C 0.000 291 0% 146 50% 4 50% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000245472 0 genome.wustl.edu 37 19 53342932 53342932 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000500065 +1 novel NULL 0.000 67 0% 33 42.4% 6 33.3% - - - - LOC388559 388559 genome.wustl.edu 37 19 53410349 53410349 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_496322.5 -1 model p.P391H 0.907 164 0% 92 46.7% 8 75% - - - superfamily_C2H2 and C2HC zinc fingers ZNF816 125893 genome.wustl.edu 37 19 53453206 53453206 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031665.1 -1 validated p.L608I 0.079 277 0% 137 12.4% 10 20% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF160 90338 genome.wustl.edu 37 19 53571909 53571909 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001102603.1 -1 reviewed p.C626 1.000 128 0% 55 36.4% 20 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF665 79788 genome.wustl.edu 37 19 53668018 53668018 + Silent SNP G G A rs184736845 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024733.3 -1 provisional p.C575 0.668 278 0% 164 35.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF665 79788 genome.wustl.edu 37 19 53668357 53668357 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024733.3 -1 provisional p.D462E 0.001 126 0.8% 77 44.2% 2 50% benign(0) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF677 342926 genome.wustl.edu 37 19 53747144 53747144 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182609.2 -1 provisional p.F8V 0.072 167 0% 76 14.5% 9 0% benign(0.001) tolerated(0.71) neutral(0.002) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF845 91664 genome.wustl.edu 37 19 53854584 53854584 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138374.1 +1 validated p.E219V 0.008 317 0.3% 114 50% 2 50% possibly_damaging(0.646) tolerated(0.22) neutral(0.269) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF765 91661 genome.wustl.edu 37 19 53905342 53905342 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040185.1 +1 provisional p.A14T 0.937 345 0% 205 38.5% 5 0% possibly_damaging(0.947) tolerated(0.06) deleterious(0.713) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF761 388561 genome.wustl.edu 37 19 53952848 53952848 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008401.3 +1 validated p.Y33 0.769 165 0% 95 31.6% 4 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF813 126017 genome.wustl.edu 37 19 53993887 53993887 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004301.3 +1 validated p.K134T 0.601 241 0% 115 50.4% 4 75% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL ZNF813 126017 genome.wustl.edu 37 19 53993903 53993903 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004301.3 +1 validated p.Q139H 0.000 243 0% 120 41.7% 5 20% probably_damaging(0.991) tolerated(0.08) deleterious(0.744) NULL ZNF813 126017 genome.wustl.edu 37 19 53994335 53994335 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004301.3 +1 validated p.T283 0.000 176 0% 65 41.5% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MIR516A2 574499 genome.wustl.edu 37 19 54264388 54264388 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000384888 +1 known NULL 0.108 115 0% 64 34.4% 0 - - - - - NLRP12 91662 genome.wustl.edu 37 19 54297342 54297342 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144687.2 -1 reviewed p.A1049 0.000 95 0% 90 47.8% 0 - - - - superfamily_RNI-like PRKCG 5582 genome.wustl.edu 37 19 54385907 54385907 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002739.3 +1 reviewed p.T53 1.000 9 0.000 14 0.643 0 - - - - HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 PRKCG 5582 genome.wustl.edu 37 19 54395880 54395880 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002739.3 +1 reviewed p.K268 0.983 10 0% 15 33.3% 1 0% - - - HMMSmart_C2,superfamily_C2_CaLB CACNG7 59284 genome.wustl.edu 37 19 54444741 54444741 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031896.3 +1 reviewed p.G148S 1.000 63 0% 78 41% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMP22_Claudin PRPF31 26121 genome.wustl.edu 37 19 54625261 54625261 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015629.3 +1 reviewed p.A87 1.000 16 0% 15 53.3% 98 41.8% - - - NULL PRPF31 26121 genome.wustl.edu 37 19 54627197 54627197 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015629.3 +1 reviewed p.A199 1.000 11 0% 18 50% 120 58.3% - - - HMMPfam_Nop,superfamily_Nop domain LOC100288135 100288135 genome.wustl.edu 37 19 54629886 54629886 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343695.1 -1 model p.T396M 0.000 19 0% 24 41.7% 1 0% - - - NULL PRPF31 26121 genome.wustl.edu 37 19 54632542 54632542 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015629.3 +1 reviewed p.R419S 1.000 16 0.000 9 0.444 100 49% benign(0.065) tolerated(0.11) neutral(0.276) HMMPfam_Prp31_C CNOT3 4849 genome.wustl.edu 37 19 54651894 54651894 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014516.2 +1 validated p.K302N 1.000 18 0% 27 25.9% 77 23.3% benign(0.348) tolerated(0.06) neutral(0.432) NULL MBOAT7 79143 genome.wustl.edu 37 19 54677785 54677785 + Missense_Mutation SNP C C A rs187952084 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024298.3 -1 reviewed p.A458S 0.032 4 0.000 12 0.333 80 45% benign(0) tolerated(0.11) neutral(0.272) NULL TSEN34 79042 genome.wustl.edu 37 19 54697089 54697089 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077446.2 +1 reviewed p.I269V 0.995 27 0% 33 39.4% 129 37.9% benign(0.003) tolerated(0.07) neutral(0.319) HMMPfam_tRNA_int_endo,superfamily_tRNA_int_endo_C LILRA6 79168 genome.wustl.edu 37 19 54744395 54744395 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024318.2 -1 validated p.G338E 0.039 81 0% 83 25.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 LILRA6 79168 genome.wustl.edu 37 19 54744862 54744862 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024318.2 -1 validated p.R267H 0.000 126 0% 126 15.1% 0 - benign(0.26) tolerated(0.86) neutral(0.028) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 LILRB4 11006 genome.wustl.edu 37 19 55179163 55179163 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006847.3 +1 reviewed p.A373 0.010 141 0% 97 36.1% 8 0% - - - NULL KIR3DL3 115653 genome.wustl.edu 37 19 55247494 55247494 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153443.3 +1 reviewed p.V388 0.000 271 0% 201 45.8% 0 - - - - NULL KIR2DL4 3805 genome.wustl.edu 37 19 55324733 55324733 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000396289 +1 known p.A287V 0.000 118 0% 94 76.6% 0 - possibly_damaging(0.741) deleterious(0) deleterious(0.716) NULL KIR2DS4 3809 genome.wustl.edu 37 19 55349208 55349208 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000339924 +1 known p.A83D 0.001 514 0% 325 42.2% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_ig,superfamily_Immunoglobulin KIR3DL2 3812 genome.wustl.edu 37 19 55363536 55363536 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006737.2 +1 reviewed p.R52C 0.000 122 0% 101 42.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 NLRP7 199713 genome.wustl.edu 37 19 55435185 55435185 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127255.1 -1 reviewed p.E1013* 0.021 344 0% 161 27.3% 0 - - - - superfamily_RNI-like NLRP7 199713 genome.wustl.edu 37 19 55451742 55451742 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127255.1 -1 reviewed p.D149N 0.000 25 0% 26 50% 0 - benign(0.003) tolerated(0.49) neutral(0.011) superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP2 55655 genome.wustl.edu 37 19 55505638 55505638 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017852.3 +1 validated p.L904F 0.630 287 0% 204 40.2% 38 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00368,superfamily_RNI-like EPS8L1 54869 genome.wustl.edu 37 19 55598958 55598958 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133180.2 +1 reviewed p.G716 0.018 93 0% 72 50% 41 53.6% - - - NULL SYT5 6861 genome.wustl.edu 37 19 55687421 55687421 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003180.2 -1 validated p.E108 0.721 70 0% 72 44.4% 1 0% - - - superfamily_C2_CaLB BRSK1 84446 genome.wustl.edu 37 19 55815073 55815073 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032430.1 +1 validated p.R389C 1.000 34 0% 45 17.8% 33 24.2% possibly_damaging(0.693) deleterious(0) deleterious(0.693) NULL TMEM150B 284417 genome.wustl.edu 37 19 55831780 55831780 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001085488.1 -1 provisional p.L59F 0.717 50 0% 53 43.4% 0 - probably_damaging(0.998) tolerated(0.12) deleterious(0.735) HMMPfam_Frag1 FAM71E2 284418 genome.wustl.edu 37 19 55871055 55871055 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145402.1 -1 predicted p.P394L 0.000 18 0% 21 42.9% 0 - benign(0.001) deleterious(0.02) neutral(0.383) NULL ZNF628 89887 genome.wustl.edu 37 19 55993064 55993064 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033113.2 +1 validated p.H164 0.716 8 0.000 11 0.545 17 47% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SSC5D 284297 genome.wustl.edu 37 19 56011251 56011251 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144950.1 +1 provisional p.R592W 0.006 34 0% 33 36.4% 1 0% possibly_damaging(0.864) deleterious(0.01) deleterious(0.740) NULL SBK2 646643 genome.wustl.edu 37 19 56047439 56047439 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001101401.1 -1 provisional p.R75C 0.991 4 0.000 16 0.750 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase ZNF524 147807 genome.wustl.edu 37 19 56113511 56113511 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153219.2 +1 validated p.S11 0.998 9 0.000 7 0.571 14 21.4% - - - NULL CCDC106 29903 genome.wustl.edu 37 19 56163972 56163972 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013301.2 +1 validated p.E235K 1.000 7 0.000 13 0.308 47 53.1% possibly_damaging(0.791) tolerated(0.15) deleterious(0.537) NULL EPN1 29924 genome.wustl.edu 37 19 56204369 56204369 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130071.1 +1 validated p.L496 0.992 13 0% 14 50% 132 46.2% - - - NULL EPN1 29924 genome.wustl.edu 37 19 56206141 56206141 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001130071.1 +1 validated p.A524 0.125 6 0.000 18 0.500 110 47.2% - - - NULL NLRP11 204801 genome.wustl.edu 37 19 56300756 56300756 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_145007.3 -1 validated p.G841 0.000 162 0% 108 45.4% 0 - - - - HMMSmart_SM00368,superfamily_RNI-like NLRP4 147945 genome.wustl.edu 37 19 56392887 56392887 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_134444.4 +1 validated p.E973D 0.000 85 0% 35 42.9% 0 - possibly_damaging(0.903) tolerated(0.48) neutral(0.368) superfamily_RNI-like NLRP13 126204 genome.wustl.edu 37 19 56419174 56419174 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176810.2 -1 validated p.N811D 0.043 41 0% 23 39.1% 0 - benign(0.238) tolerated(0.56) neutral(0.030) superfamily_SSF52047 NLRP13 126204 genome.wustl.edu 37 19 56435286 56435286 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_176810.2 -1 validated p.E173* 0.025 332 0% 145 41.4% 0 - - - - NULL NLRP5 126206 genome.wustl.edu 37 19 56552422 56552422 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153447.4 +1 reviewed p.S974F 0.000 56 0% 38 52.6% 0 - benign(0.005) tolerated(0.26) neutral(0.034) superfamily_SSF52047 NLRP5 126206 genome.wustl.edu 37 19 56565133 56565133 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153447.4 +1 reviewed p.C1086 0.014 53 0% 51 45.1% 0 - - - - superfamily_SSF52047 LOC646698 646698 genome.wustl.edu 37 19 56757813 56757813 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001725568.1 +1 model p.E236D 0.001 44 0% 34 29.4% 0 - - - - NULL LOC646698 646698 genome.wustl.edu 37 19 56758198 56758198 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001725568.1 +1 model p.E276* 0.051 97 0% 87 43.7% 0 - - - - NULL LOC646698 646698 genome.wustl.edu 37 19 56758796 56758796 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001725568.1 +1 model p.R475Q 0.003 21 0% 12 33.3% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF582 147948 genome.wustl.edu 37 19 56895856 56895856 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144690.1 -1 provisional p.P310 0.002 96 0% 37 40.5% 1 0% - - - superfamily_SSF57667 ZNF583 147949 genome.wustl.edu 37 19 56935562 56935562 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152478.2 +1 validated p.R512I 0.615 204 0% 70 48.6% 5 80% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF667 63934 genome.wustl.edu 37 19 56953625 56953625 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022103.3 -1 validated p.H247N 0.002 232 0% 111 51.4% 1 0% benign(0) tolerated(0.05) neutral(0.345) HMMSmart_SM00355 ZNF667 63934 genome.wustl.edu 37 19 56953901 56953901 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022103.3 -1 validated p.R155* 0.000 228 0.4% 94 39.4% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP28 140612 genome.wustl.edu 37 19 57065163 57065163 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020828.1 +1 provisional p.E337* 0.011 141 0% 66 42.4% 1 0% - - - NULL ZNF470 388566 genome.wustl.edu 37 19 57086064 57086064 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001668.3 +1 validated p.W82* 0.260 214 0% 104 40.4% 4 50% - - - HMMSmart_KRAB ZIM2 23619 genome.wustl.edu 37 19 57286450 57286450 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015363.4 -1 reviewed p.A397V 0.000 57 0% 36 44.4% 0 - unknown(0) deleterious(0.03) - superfamily_SSF57667 PEG3 5178 genome.wustl.edu 37 19 57326784 57326784 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006210.2 -1 reviewed p.S1009N 0.320 102 0% 48 37.5% 0 - probably_damaging(0.996) tolerated(0.1) deleterious(0.748) NULL PEG3 5178 genome.wustl.edu 37 19 57326965 57326965 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006210.2 -1 reviewed p.T949A 0.945 163 0% 60 33.3% 0 - benign(0.291) tolerated(0.43) neutral(0.103) NULL PEG3 5178 genome.wustl.edu 37 19 57327849 57327849 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006210.2 -1 reviewed p.P654Q 0.528 177 0% 56 57.1% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_C2H2 and C2HC zinc fingers USP29 57663 genome.wustl.edu 37 19 57640712 57640712 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020903.2 +1 validated p.K223 0.000 94 0% 52 61.5% 0 - - - - NULL ZIM3 114026 genome.wustl.edu 37 19 57646709 57646709 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052882.1 -1 provisional p.E332D 1.000 363 0% 164 41.5% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) superfamily_SSF57667 DUXA 503835 genome.wustl.edu 37 19 57669826 57669826 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012729.1 -1 validated p.R103Q 0.057 112 0% 82 46.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ZNF264 9422 genome.wustl.edu 37 19 57724113 57724113 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003417.4 +1 reviewed p.R550C 0.629 109 0% 65 44.6% 3 66.6% probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF304 57343 genome.wustl.edu 37 19 57865100 57865100 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020657.2 +1 validated p.V14A 0.964 158 0% 115 18.3% 5 0% possibly_damaging(0.892) deleterious(0.01) deleterious(0.757) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF548 147694 genome.wustl.edu 37 19 57908527 57908527 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152909.3 +1 validated p.L43I 0.001 255 0% 155 45.8% 5 60% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF17 7565 genome.wustl.edu 37 19 57932608 57932608 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006959.2 +1 validated p.K583R 0.000 157 0% 64 46.9% 2 50% possibly_damaging(0.472) tolerated(0.24) neutral(0.194) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF749 388567 genome.wustl.edu 37 19 57956042 57956042 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001023561.2 +1 provisional p.R509Q 0.000 101 0% 64 40.6% 7 42.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_C2H2 and C2HC zinc fingers ZNF773 374928 genome.wustl.edu 37 19 58018236 58018236 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198542.1 +1 provisional p.R258H 0.016 177 0% 114 43.9% 3 0% benign(0.101) tolerated(0.82) neutral(0.008) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF549 256051 genome.wustl.edu 37 19 58049983 58049983 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153263.1 +1 provisional p.V524 0.074 83 0% 63 47.6% 3 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF549 256051 genome.wustl.edu 37 19 58050267 58050267 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153263.1 +1 provisional p.Q619P 0.517 43 0% 28 57.1% 6 66.6% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF550 162972 genome.wustl.edu 37 19 58059176 58059176 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039654.1 -1 provisional p.L105I 0.000 189 0% 100 42% 8 25% benign(0.004) tolerated(0.4) neutral(0.016) NULL ZNF416 55659 genome.wustl.edu 37 19 58084718 58084718 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017879.1 -1 provisional p.G185D 0.001 153 0% 84 38.1% 1 100% benign(0.012) tolerated(0.57) neutral(0.007) NULL ZNF551 90233 genome.wustl.edu 37 19 58198728 58198728 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138347.3 +1 validated p.P346H 0.985 76 0% 47 46.8% 2 50% probably_damaging(0.995) tolerated(0.05) deleterious(0.803) superfamily_C2H2 and C2HC zinc fingers ZNF776 284309 genome.wustl.edu 37 19 58264939 58264939 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173632.3 +1 validated p.K147 0.000 64 0% 41 39% 4 75% - - - superfamily_C2H2 and C2HC zinc fingers ZNF552 79818 genome.wustl.edu 37 19 58319720 58319720 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024762.3 -1 validated p.F304L 0.022 193 0% 114 47.4% 3 33.3% benign(0) tolerated(0.66) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF587 84914 genome.wustl.edu 37 19 58352682 58352682 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343662.1 +1 model p.Y214H 0.000 125 0% 78 38.5% 4 25% benign(0.064) tolerated(0.18) neutral(0.060) NULL ZNF587 84914 genome.wustl.edu 37 19 58370684 58370684 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000339656 +1 known p.G302R 0.998 225 0% 131 42.7% 15 46.6% probably_damaging(0.956) deleterious(0.03) deleterious(0.764) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF814 730051 genome.wustl.edu 37 19 58385391 58385391 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144989.1 -1 validated p.R456Q 0.001 249 0.4% 122 13.1% 1 0% unknown(0) tolerated(0.1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF814 730051 genome.wustl.edu 37 19 58385737 58385737 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144989.1 -1 validated p.N341D 0.000 868 0% 383 13.3% 3 33.3% unknown(0) tolerated(0.61) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF814 730051 genome.wustl.edu 37 19 58386368 58386368 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144989.1 -1 validated p.Y130 0.000 342 0% 177 28.2% 2 0% - - - superfamily_C2H2 and C2HC zinc fingers ZNF418 147686 genome.wustl.edu 37 19 58437927 58437927 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133460.1 -1 provisional p.G541E 0.000 111 0% 63 46% 2 50% benign(0.125) tolerated(0.56) neutral(0.017) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF256 10172 genome.wustl.edu 37 19 58453326 58453326 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005773.2 -1 validated p.T284A 0.000 109 0% 63 42.9% 6 16.6% benign(0.002) tolerated(0.67) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF606 80095 genome.wustl.edu 37 19 58490285 58490285 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025027.3 -1 validated p.R588I 1.000 167 0% 80 46.3% 6 66.6% possibly_damaging(0.902) deleterious(0) deleterious(0.801) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN1 284312 genome.wustl.edu 37 19 58563961 58563961 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182572.3 +1 validated p.A190V 0.003 10 0.000 7 0.571 0 - probably_damaging(0.974) tolerated(0.24) neutral(0.453) NULL ZSCAN1 284312 genome.wustl.edu 37 19 58565098 58565098 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182572.3 +1 validated p.T302 0.045 17 0% 11 63.6% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN18 65982 genome.wustl.edu 37 19 58601411 58601411 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145542.1 -1 validated p.R131H 0.968 6 0.000 9 0.667 22 31.8% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_SCAN,HMMSmart_SCAN ZNF329 79673 genome.wustl.edu 37 19 58639978 58639978 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024620.3 -1 validated p.R298Q 0.851 321 0% 167 40.1% 10 60% probably_damaging(1) tolerated(0.71) deleterious(0.501) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF329 79673 genome.wustl.edu 37 19 58640203 58640203 + Missense_Mutation SNP C C T rs148562357 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024620.3 -1 validated p.R223Q 1.000 194 0% 130 90% 5 100% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF274 10782 genome.wustl.edu 37 19 58724297 58724297 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000424679 +1 known p.T583A 0.998 55 0% 39 61.5% 24 33.3% possibly_damaging(0.525) tolerated(0.07) deleterious(0.496) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF544 27300 genome.wustl.edu 37 19 58757691 58757691 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014480.2 +1 provisional p.A20T 0.997 33 0% 35 31.4% 63 49.2% benign(0.29) tolerated(0.18) neutral(0.145) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF8 7554 genome.wustl.edu 37 19 58805720 58805720 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021089.2 +1 validated p.C182 0.000 35 0% 23 17.4% 8 25% - - - NULL ZNF132 7691 genome.wustl.edu 37 19 58946279 58946279 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003433.3 -1 validated p.A178T 0.000 104 0% 66 39.4% 1 0% benign(0.005) tolerated(0.48) neutral(0.011) NULL ZNF446 55663 genome.wustl.edu 37 19 58989096 58989096 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017908.2 +1 provisional p.E145D 0.255 18 0% 33 45.5% 12 58.3% possibly_damaging(0.916) tolerated(0.35) neutral(0.388) NULL SLC27A5 10998 genome.wustl.edu 37 19 59012675 59012675 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012254.2 -1 reviewed p.R387Q 1.000 35 0% 30 33.3% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like TRIM28 10155 genome.wustl.edu 37 19 59056844 59056844 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005762.2 +1 reviewed p.E131D 1.000 30 0% 24 25% 91 40.6% benign(0.203) tolerated(0.86) neutral(0.020) superfamily_RING/U-box TRIM28 10155 genome.wustl.edu 37 19 59059681 59059681 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005762.2 +1 reviewed p.R374 0.976 81 0% 65 47.7% 315 52% - - - HMMSmart_SM00502 C20orf96 140680 genome.wustl.edu 37 20 257870 257870 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153269.1 -1 predicted p.Q240 0.988 41 0% 43 41.9% 40 50% - - - NULL ENSG00000247315 0 genome.wustl.edu 37 20 279500 279500 + RNA SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000500893 -1 known NULL 1.000 4 0.000 6 0.667 9 66.6% - - - - CSNK2A1 1457 genome.wustl.edu 37 20 472920 472920 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001895.3 -1 reviewed p.P200L 1.000 199 0% 82 39% 78 44.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ANGPT4 51378 genome.wustl.edu 37 20 861901 861901 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015985.2 -1 reviewed p.F288 1.000 36 0% 24 54.2% 1 100% - - - HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C PSMF1 9491 genome.wustl.edu 37 20 1115924 1115924 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006814.3 +1 reviewed p.P176S 1.000 33 0% 22 54.5% 92 43.4% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL SNPH 9751 genome.wustl.edu 37 20 1277043 1277043 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014723.2 +1 reviewed p.R10W 0.995 20 0% 23 43.5% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SNPH 9751 genome.wustl.edu 37 20 1285597 1285597 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014723.2 +1 reviewed p.R128 0.553 11 0% 20 55% 1 0% - - - NULL SIRPA 140885 genome.wustl.edu 37 20 1902123 1902123 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040022.1 +1 reviewed p.H173 0.961 181 0% 158 41.1% 5 20% - - - HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 SIRPA 140885 genome.wustl.edu 37 20 1905411 1905411 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001040022.1 +1 reviewed p.E363 0.000 272 0% 182 21.4% 20 25% - - - NULL SNRPB 6628 genome.wustl.edu 37 20 2446432 2446432 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198216.1 -1 reviewed p.E63 1.000 167 0% 92 41.3% 432 46.9% - - - HMMPfam_LSM,HMMSmart_SM00651,superfamily_Sm-like ribonucleoproteins ZNF343 79175 genome.wustl.edu 37 20 2464598 2464598 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024325.4 -1 validated p.K337E 0.001 77 0% 60 40% 5 60% probably_damaging(0.992) tolerated(0.15) deleterious(0.689) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TMC2 117532 genome.wustl.edu 37 20 2604935 2604935 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080751.2 +1 validated p.Y733 0.992 54 1.9% 38 34.2% 0 - - - - NULL NOP56 10528 genome.wustl.edu 37 20 2636367 2636367 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006392.2 +1 reviewed p.S295N 1.000 86 0% 81 48.1% 88 70.4% benign(0.002) tolerated(1) - HMMPfam_Nop,superfamily_SSF89124 NOP56 10528 genome.wustl.edu 37 20 2637452 2637452 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006392.2 +1 reviewed p.R398* 1.000 109 0% 82 54.9% 106 16.9% - - - HMMPfam_Nop,superfamily_SSF89124 CPXM1 56265 genome.wustl.edu 37 20 2777053 2777053 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019609.4 -1 reviewed p.G361E 1.000 33 0% 38 44.7% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Zn-dependent exopeptidases ENSG00000198326 0 genome.wustl.edu 37 20 2797379 2797379 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000361033 +1 known p.R103H 0.956 24 0% 18 44.4% 0 - possibly_damaging(0.865) deleterious(0) deleterious(0.780) NULL VPS16 64601 genome.wustl.edu 37 20 2842291 2842291 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022575.2 +1 reviewed p.A280 0.046 30 0% 30 43.3% 26 42.3% - - - HMMPfam_Vps16_N PTPRA 5786 genome.wustl.edu 37 20 3016535 3016535 + Missense_Mutation SNP G G A rs148576102 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002836.3 +1 reviewed p.V716M 1.000 25 0% 22 27.3% 92 45.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPRA 5786 genome.wustl.edu 37 20 3018746 3018746 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002836.3 +1 reviewed p.I792 0.998 240 0% 154 46.8% 58 48.2% - - - HMMSmart_PTPc,superfamily_SSF52799 SLC4A11 83959 genome.wustl.edu 37 20 3215218 3215218 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032034.3 -1 reviewed p.R112Q 1.000 17 0% 22 50% 3 33.3% probably_damaging(0.99) tolerated(0.23) deleterious(0.483) superfamily_Phoshotransferase/anion transport protein SLC4A11 83959 genome.wustl.edu 37 20 3215509 3215509 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032034.3 -1 reviewed p.F56 0.003 45 0% 42 47.6% 2 0% - - - NULL ATRN 8455 genome.wustl.edu 37 20 3526537 3526537 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139321.2 +1 reviewed p.S246I 0.999 404 0% 239 41% 7 0% possibly_damaging(0.87) tolerated(0.1) deleterious(0.625) HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_EGF/Laminin ATRN 8455 genome.wustl.edu 37 20 3529985 3529985 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139321.2 +1 reviewed p.A371V 1.000 255 0% 132 43.9% 8 50% possibly_damaging(0.661) tolerated(1) neutral(0.234) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain ATRN 8455 genome.wustl.edu 37 20 3564618 3564618 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139321.2 +1 reviewed p.S946 1.000 49 0% 30 56.7% 39 58.9% - - - HMMPfam_PSI,HMMSmart_SM00423 ADAM33 80332 genome.wustl.edu 37 20 3653229 3653229 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025220.2 -1 reviewed p.R452 0.002 12 0% 16 37.5% 0 - - - - HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) ADAM33 80332 genome.wustl.edu 37 20 3654748 3654748 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025220.2 -1 reviewed p.K234T 1.000 46 0% 44 47.7% 1 0% unknown(0) deleterious(0.01) - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM33 80332 genome.wustl.edu 37 20 3655282 3655282 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025220.2 -1 reviewed p.G157S 0.009 21 0% 26 19.2% 0 - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_Pep_M12B_propep SIGLEC1 6614 genome.wustl.edu 37 20 3675460 3675460 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_023068.3 -1 reviewed p.R932W 0.438 10 0% 12 33.3% 0 - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin C20orf27 54976 genome.wustl.edu 37 20 3739298 3739298 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039140.1 -1 validated p.R41H 1.000 36 0% 49 36.7% 96 55.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CDC25B 994 genome.wustl.edu 37 20 3778354 3778354 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021873.2 +1 reviewed p.E96K 0.312 16 0% 26 30.8% 37 40.5% possibly_damaging(0.836) tolerated(0.18) neutral(0.376) NULL SMOX 54498 genome.wustl.edu 37 20 4155800 4155800 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175839.1 +1 reviewed p.G33D 1.000 29 0% 34 47.1% 29 41.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FAD/NAD(P)-binding domain SMOX 54498 genome.wustl.edu 37 20 4158175 4158175 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_175839.1 +1 reviewed p.R129H 0.100 74 0% 66 37.9% 29 44.8% benign(0.008) tolerated(0.3) neutral(0.029) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain SLC23A2 9962 genome.wustl.edu 37 20 4839969 4839969 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005116.5 -1 reviewed p.G562 1.000 109 0% 99 39.4% 9 44.4% - - - NULL SLC23A2 9962 genome.wustl.edu 37 20 4866472 4866472 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005116.5 -1 reviewed p.T189I 1.000 105 0% 65 33.8% 7 0% benign(0.008) tolerated(0.08) neutral(0.300) HMMPfam_Xan_ur_permease PCNA 5111 genome.wustl.edu 37 20 5096122 5096122 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002592.2 -1 reviewed p.L227I 1.000 388 0% 234 39.3% 205 47.8% benign(0.237) tolerated(0.25) neutral(0.060) HMMPfam_PCNA_C,superfamily_DNA clamp GPCPD1 56261 genome.wustl.edu 37 20 5560675 5560675 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019593.3 -1 validated p.K151R 1.000 147 0% 87 46% 12 50% probably_damaging(0.999) tolerated(0.83) deleterious(0.491) NULL CHGB 1114 genome.wustl.edu 37 20 5904128 5904128 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001819.2 +1 reviewed p.H446 0.013 60 0% 57 40.4% 0 - - - - HMMPfam_Granin MCM8 84515 genome.wustl.edu 37 20 5953765 5953765 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032485.4 +1 reviewed p.N440H 1.000 214 0% 99 20.2% 3 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases MCM8 84515 genome.wustl.edu 37 20 5966607 5966607 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032485.4 +1 reviewed p.L665 1.000 303 0% 164 43.9% 17 52.9% - - - HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases FERMT1 55612 genome.wustl.edu 37 20 6057863 6057863 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017671.4 -1 reviewed p.L664R 0.995 38 0% 37 13.5% 6 16.6% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL FERMT1 55612 genome.wustl.edu 37 20 6075603 6075603 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017671.4 -1 reviewed p.D374 0.996 414 0% 116 38.8% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 FERMT1 55612 genome.wustl.edu 37 20 6100118 6100118 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017671.4 -1 reviewed p.D28 0.000 133 0% 94 41.5% 1 0% - - - NULL ANKRD5 63926 genome.wustl.edu 37 20 10032318 10032318 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022096.4 +1 validated p.V551I 0.998 187 0.5% 46 45.7% 2 100% possibly_damaging(0.653) tolerated(0.28) neutral(0.261) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD5 63926 genome.wustl.edu 37 20 10033895 10033895 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022096.4 +1 validated p.T669I 0.002 227 0% 70 38.6% 4 75% benign(0.157) deleterious(0.02) neutral(0.397) NULL C20orf94 128710 genome.wustl.edu 37 20 10541454 10541454 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009608.1 +1 validated p.P75L 1.000 189 0% 77 46.8% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C20orf94 128710 genome.wustl.edu 37 20 10603749 10603749 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009608.1 +1 validated p.R317* 0.699 63 0% 23 39.1% 2 0% - - - NULL JAG1 182 genome.wustl.edu 37 20 10621443 10621443 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000214.2 -1 reviewed p.K1063E 0.984 117 0% 102 45.1% 23 60.8% benign(0.032) tolerated(0.87) neutral(0.002) NULL BTBD3 22903 genome.wustl.edu 37 20 11903532 11903532 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014962.2 +1 validated p.D263N 1.000 88 0% 46 32.6% 22 31.8% possibly_damaging(0.858) deleterious(0) deleterious(0.776) NULL SPTLC3 55304 genome.wustl.edu 37 20 13029625 13029625 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018327.2 +1 validated p.L50 0.071 245 0% 93 37.6% 7 42.8% - - - NULL SPTLC3 55304 genome.wustl.edu 37 20 13134720 13134720 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000431275 +1 known p.S48L 1.000 282 0% 108 43.5% 5 40% - - - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases TASP1 55617 genome.wustl.edu 37 20 13539737 13539737 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017714.2 -1 reviewed p.R198K 1.000 534 0% 190 44.7% 2 50% benign(0.002) tolerated(0.99) - HMMPfam_Asparaginase_2,superfamily_SSF56235 ESF1 51575 genome.wustl.edu 37 20 13763472 13763472 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016649.3 -1 provisional p.I105 0.023 252 0% 109 33.9% 0 - - - - NULL ESF1 51575 genome.wustl.edu 37 20 13763630 13763630 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016649.3 -1 provisional p.V53M 1.000 114 0% 69 50.7% 6 33.3% possibly_damaging(0.862) deleterious(0) deleterious(0.778) NULL C20orf7 79133 genome.wustl.edu 37 20 13797531 13797531 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024120.4 +1 reviewed p.R291S 0.991 359 0% 110 50% 27 59.2% benign(0.001) tolerated(0.26) neutral(0.034) superfamily_S-adenosyl-L-methionine-dependent methyltransferases MACROD2 140733 genome.wustl.edu 37 20 13982963 13982963 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080676.5 +1 validated p.R26G 1.000 359 0% 133 42.1% 5 20% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL KIF16B 55614 genome.wustl.edu 37 20 16352371 16352371 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024704.3 -1 validated p.R1129H 1.000 205 0% 99 43.4% 7 28.5% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL KIF16B 55614 genome.wustl.edu 37 20 16488663 16488663 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024704.3 -1 validated p.A213 0.350 83 0% 30 66.7% 7 42.8% - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF16B 55614 genome.wustl.edu 37 20 16492153 16492153 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024704.3 -1 validated p.E156K 1.000 188 0% 58 36.2% 5 20% unknown(0) deleterious(0) - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases DSTN 11034 genome.wustl.edu 37 20 17581620 17581620 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006870.3 +1 reviewed p.R81C 1.000 185 0% 58 51.7% 245 30.2% benign(0.375) tolerated(0.12) neutral(0.380) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins SNX5 27131 genome.wustl.edu 37 20 17930826 17930826 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014426.2 -1 reviewed p.T247 1.000 136 0% 77 16.9% 80 8.7% - - - HMMPfam_Vps5 C20orf72 92667 genome.wustl.edu 37 20 17956473 17956473 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052865.2 +1 predicted p.R220* 0.974 226 0% 168 45.8% 7 28.5% - - - NULL CSRP2BP 57325 genome.wustl.edu 37 20 18163836 18163836 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020536.4 +1 reviewed p.S626 1.000 104 0% 94 39.4% 13 46.1% - - - NULL DZANK1 55184 genome.wustl.edu 37 20 18440842 18440842 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099407.1 -1 validated p.T73I 1.000 384 0% 171 37.4% 1 100% benign(0.06) deleterious(0.04) neutral(0.353) NULL POLR3F 10621 genome.wustl.edu 37 20 18462322 18462322 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006466.2 +1 reviewed p.K247N 1.000 159 0% 76 44.7% 16 50% probably_damaging(0.996) tolerated(0.26) deleterious(0.496) HMMPfam_RNA_pol_Rpc34 RBBP9 10741 genome.wustl.edu 37 20 18474613 18474613 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006606.2 -1 reviewed p.I79 0.930 37 0% 25 48% 19 47.3% - - - HMMPfam_DUF1234,superfamily_alpha/beta-Hydrolases RBBP9 10741 genome.wustl.edu 37 20 18474666 18474666 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006606.2 -1 reviewed p.E62K 0.996 35 0% 31 45.2% 19 63.1% possibly_damaging(0.908) tolerated(0.31) neutral(0.389) HMMPfam_DUF1234,superfamily_alpha/beta-Hydrolases SLC24A3 57419 genome.wustl.edu 37 20 19566106 19566106 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020689.3 +1 validated p.D177G 1.000 170 0% 104 14.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Na_Ca_ex NAA20 51126 genome.wustl.edu 37 20 20013245 20013245 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016100.3 +1 validated p.T133 0.025 132 0% 37 29.7% 109 22% - - - superfamily_Acyl-CoA N-acyltransferases (Nat) CRNKL1 51340 genome.wustl.edu 37 20 20029104 20029104 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016652.4 -1 reviewed p.R274Q 1.000 289 0% 159 52.2% 29 44.8% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_HAT,HMMSmart_SM00386,superfamily_TPR-like C20orf26 26074 genome.wustl.edu 37 20 20257859 20257859 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015585.3 +1 validated p.E851D 0.057 35 0% 30 40% 0 - possibly_damaging(0.912) tolerated(0.19) neutral(0.413) superfamily_FAD/NAD(P)-binding domain C20orf26 26074 genome.wustl.edu 37 20 20269504 20269504 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015585.3 +1 validated p.P1016 1.000 69 0% 39 46.2% 0 - - - - NULL C20orf26 26074 genome.wustl.edu 37 20 20279020 20279020 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015585.3 +1 validated p.D1138Y 1.000 89 0% 59 15.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RALGAPA2 57186 genome.wustl.edu 37 20 20392673 20392673 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020343.2 -1 validated p.T1872M 1.000 142 0% 101 34.7% 5 40% possibly_damaging(0.951) tolerated(0.16) neutral(0.454) NULL XRN2 22803 genome.wustl.edu 37 20 21327079 21327079 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012255.3 +1 reviewed p.R519Q 1.000 146 0% 77 32.5% 61 50.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FOXA2 3170 genome.wustl.edu 37 20 22562494 22562494 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021784.4 -1 reviewed p.S462 0.943 56 0% 93 44.1% 39 56.4% - - - NULL SSTR4 6754 genome.wustl.edu 37 20 23016676 23016676 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001052.2 +1 validated p.D186Y 0.900 11 0% 12 75% 0 - possibly_damaging(0.508) deleterious(0.04) deleterious(0.519) HMMPfam_7tm_1,superfamily_SSF81321 SSTR4 6754 genome.wustl.edu 37 20 23016928 23016928 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001052.2 +1 validated p.L270I 0.997 97 0% 119 38.7% 0 - benign(0.049) tolerated(0.74) neutral(0.005) HMMPfam_7tm_1,superfamily_SSF81321 CD93 22918 genome.wustl.edu 37 20 23066700 23066700 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012072.3 -1 reviewed p.L44M 0.996 3 0.000 11 0.455 4 0% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold NAPB 63908 genome.wustl.edu 37 20 23361947 23361947 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022080.2 -1 validated p.A190V 1.000 168 0% 68 30.9% 4 25% benign(0) tolerated(0.16) neutral(0.059) superfamily_TPR-like CSTL1 128817 genome.wustl.edu 37 20 23424580 23424580 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138283.1 +1 reviewed p.G77R 0.952 59 0% 37 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 CST9 128822 genome.wustl.edu 37 20 23584269 23584269 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008693.2 -1 reviewed p.E120K 0.001 146 0% 97 41.2% 0 - probably_damaging(0.954) deleterious(0.05) deleterious(0.743) superfamily_SSF54403 GGTLC1 92086 genome.wustl.edu 37 20 23967147 23967147 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178311.2 -1 reviewed p.D34 0.928 25 0% 29 51.7% 0 - - - - HMMPfam_G_glu_transpept SYNDIG1 79953 genome.wustl.edu 37 20 24523842 24523842 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024893.1 +1 provisional p.D37Y 1.000 26 0% 13 38.5% 0 - possibly_damaging(0.819) deleterious(0.05) deleterious(0.655) NULL PYGB 5834 genome.wustl.edu 37 20 25277062 25277062 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002862.3 +1 reviewed p.F812L 1.000 33 0% 45 40% 153 43.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Phosphorylase,superfamily_SSF53756 ABHD12 26090 genome.wustl.edu 37 20 25282983 25282983 + Splice_Site SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015600.3 -1 validated e12-1 1.000 31 0% 44 11.4% 0 - - - - - NINL 22981 genome.wustl.edu 37 20 25491371 25491371 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025176.4 -1 validated p.P152 1.000 228 0% 161 45.3% 8 12.5% - - - superfamily_SSF47473 ENSG00000099389 0 genome.wustl.edu 37 20 26094541 26094541 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356439 -1 known p.T28A 1.000 1225 0% 573 15% 0 - - - - NULL BCL2L1 598 genome.wustl.edu 37 20 30253861 30253861 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138578.1 -1 reviewed p.N198S 0.997 46 0% 33 33.3% 75 48% benign(0) tolerated(0.16) neutral(0.059) superfamily_Bcl-2 inhibitors of programmed cell death TPX2 22974 genome.wustl.edu 37 20 30347967 30347967 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012112.4 +1 validated p.T72A 0.984 314 0% 149 33.6% 15 93.3% possibly_damaging(0.631) tolerated(0.09) deleterious(0.517) NULL TPX2 22974 genome.wustl.edu 37 20 30380610 30380610 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012112.4 +1 validated p.R496* 0.995 249 0% 93 52.7% 27 0% - - - NULL TTLL9 164395 genome.wustl.edu 37 20 30475041 30475041 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008409.2 +1 provisional p.R38* 0.995 240 0% 119 52.9% 0 - - - - NULL HCK 3055 genome.wustl.edu 37 20 30671713 30671713 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002110.3 +1 reviewed p.S183 0.002 60 0% 31 35.5% 7 71.4% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain C20orf112 140688 genome.wustl.edu 37 20 31035494 31035494 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080616.3 -1 validated p.A406T 1.000 19 0% 15 53.3% 7 71.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DNMT3B 1789 genome.wustl.edu 37 20 31372644 31372644 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006892.3 +1 reviewed p.R95 0.996 51 0% 35 25.7% 7 42.8% - - - NULL DNMT3B 1789 genome.wustl.edu 37 20 31388078 31388078 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006892.3 +1 reviewed p.D627N 1.000 127 0.8% 95 33.7% 14 28.5% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases DNMT3B 1789 genome.wustl.edu 37 20 31394130 31394130 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006892.3 +1 reviewed p.E806G 1.000 70 0% 55 40% 19 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases EFCAB8 388795 genome.wustl.edu 37 20 31505293 31505293 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000439060 +1 known p.A105T 0.308 53 0% 34 41.2% 0 - - - - superfamily_WD40 repeat-like EFCAB8 388795 genome.wustl.edu 37 20 31507959 31507959 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000440534 +1 known p.E784* 0.000 157 0% 116 39.7% 0 - - - - NULL EFCAB8 388795 genome.wustl.edu 37 20 31549373 31549373 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000440534 +1 known p.T1275 0.000 20 0% 20 35% 0 - - - - NULL SUN5 140732 genome.wustl.edu 37 20 31573551 31573551 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080675.3 -1 validated p.F296 0.900 55 0% 27 44.4% 0 - - - - HMMPfam_Sad1_UNC BPIFB2 80341 genome.wustl.edu 37 20 31609144 31609144 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025227.1 +1 reviewed p.L418F 0.999 5 0.000 16 0.625 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI BPIFB6 128859 genome.wustl.edu 37 20 31622087 31622087 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174897.2 +1 validated p.T98I 0.986 61 0% 46 50% 0 - probably_damaging(0.992) tolerated(0.09) deleterious(0.744) HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom BPIFA2 140683 genome.wustl.edu 37 20 31763302 31763302 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080574.2 +1 validated p.P167L 0.000 99 0% 73 24.7% 0 - benign(0.401) tolerated(0.71) neutral(0.131) HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom BPIFA1 51297 genome.wustl.edu 37 20 31828052 31828052 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016583.3 +1 reviewed p.A148T 0.030 65 0% 36 33.3% 0 - possibly_damaging(0.507) tolerated(0.47) neutral(0.181) HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI E2F1 1869 genome.wustl.edu 37 20 32265081 32265081 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005225.2 -1 reviewed p.P299H 1.000 100 0% 38 89.5% 19 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PXMP4 11264 genome.wustl.edu 37 20 32298401 32298401 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007238.4 -1 validated p.G112D 1.000 89 0% 85 36.5% 20 45% unknown(0) - - HMMPfam_Pmp24 ITCH 83737 genome.wustl.edu 37 20 33001580 33001580 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031483.4 +1 reviewed p.G124C 0.935 282 0.4% 142 16.2% 26 11.5% probably_damaging(0.982) deleterious(0.03) deleterious(0.791) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) NCOA6 23054 genome.wustl.edu 37 20 33324531 33324531 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014071.2 -1 reviewed p.T1975 0.879 154 0% 72 40.3% 30 33.3% - - - NULL NCOA6 23054 genome.wustl.edu 37 20 33334700 33334700 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014071.2 -1 reviewed p.E942A 0.995 138 0% 87 42.5% 9 55.5% possibly_damaging(0.806) deleterious(0.01) deleterious(0.709) NULL NCOA6 23054 genome.wustl.edu 37 20 33337752 33337752 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014071.2 -1 reviewed p.P749L 1.000 70 0% 57 29.8% 28 60.7% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL NCOA6 23054 genome.wustl.edu 37 20 33338113 33338113 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014071.2 -1 reviewed p.V629M 0.989 57 0% 55 43.6% 18 50% possibly_damaging(0.563) deleterious(0) deleterious(0.637) NULL NCOA6 23054 genome.wustl.edu 37 20 33364168 33364168 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014071.2 -1 reviewed p.R107W 1.000 105 0% 57 14% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYH7B 57644 genome.wustl.edu 37 20 33577714 33577714 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020884.3 +1 reviewed p.A629T 0.998 25 0% 26 46.2% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7B 57644 genome.wustl.edu 37 20 33577874 33577874 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020884.3 +1 reviewed p.V651M 1.000 51 0% 56 23.2% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7B 57644 genome.wustl.edu 37 20 33584193 33584193 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020884.3 +1 reviewed p.V1038 0.998 14 0% 15 33.3% 1 0% - - - superfamily_tRNA-binding arm MYH7B 57644 genome.wustl.edu 37 20 33586109 33586109 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020884.3 +1 reviewed p.E1295 1.000 18 0% 17 35.3% 1 0% - - - HMMPfam_Myosin_tail_1,superfamily_Prefoldin TRPC4AP 26133 genome.wustl.edu 37 20 33592341 33592341 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015638.2 -1 validated p.A657T 0.322 68 0% 62 35.5% 83 78.3% benign(0) tolerated(0.7) neutral(0.002) NULL TRPC4AP 26133 genome.wustl.edu 37 20 33609001 33609001 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015638.2 -1 validated p.R404* 1.000 37 0% 40 30% 38 5.2% - - - NULL MMP24 10893 genome.wustl.edu 37 20 33842430 33842430 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006690.3 +1 reviewed p.G230 0.001 133 0% 108 13% 0 - - - - "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" FAM83C 128876 genome.wustl.edu 37 20 33875355 33875355 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178468.4 -1 validated p.L409 0.004 34 0% 52 53.8% 0 - - - - NULL FAM83C 128876 genome.wustl.edu 37 20 33875622 33875622 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178468.4 -1 validated p.R320 0.003 22 0% 31 45.2% 0 - - - - NULL GDF5 8200 genome.wustl.edu 37 20 34022254 34022254 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000557.2 -1 reviewed p.R320M 1.000 10 0% 14 42.9% 15 53.3% benign(0.096) deleterious(0.03) neutral(0.371) HMMPfam_TGFb_propeptide CEP250 11190 genome.wustl.edu 37 20 34096828 34096828 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007186.3 +1 reviewed p.G2321 0.000 47 0% 42 42.9% 52 28.8% - - - NULL CEP250 11190 genome.wustl.edu 37 20 34097877 34097877 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007186.3 +1 reviewed p.Q2353H 1.000 154 0% 121 46.3% 51 56.8% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL C20orf173 140873 genome.wustl.edu 37 20 34116763 34116763 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000246199 -1 known p.Q32H 0.000 45 0% 42 38.1% 0 - benign(0.031) - - NULL ERGIC3 51614 genome.wustl.edu 37 20 34130670 34130670 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198398.1 +1 validated p.S116N 1.000 55 0% 51 23.5% 523 19.6% benign(0.017) tolerated(0.34) neutral(0.024) NULL ERGIC3 51614 genome.wustl.edu 37 20 34136404 34136404 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198398.1 +1 validated p.Y202H 1.000 56 0% 46 37% 280 53.9% benign(0.333) tolerated(0.23) neutral(0.146) HMMPfam_DUF1692 CPNE1 8904 genome.wustl.edu 37 20 34214538 34214538 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003915.4 -1 reviewed p.A480D 0.918 34 0% 28 35.7% 221 35.2% benign(0.054) tolerated(0.22) neutral(0.046) HMMSmart_VWA,superfamily_SSF53300 RBM12 10137 genome.wustl.edu 37 20 34243011 34243011 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006047.4 -1 reviewed p.E78 1.000 263 0% 144 41.7% 44 52.2% - - - NULL PHF20 51230 genome.wustl.edu 37 20 34526962 34526962 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016436.4 +1 validated p.R882C 0.445 11 0% 13 69.2% 12 16.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL C20orf152 140894 genome.wustl.edu 37 20 34575388 34575388 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080834.1 +1 predicted p.R263M 0.349 117 0% 53 50.9% 0 - possibly_damaging(0.691) tolerated(0.06) deleterious(0.570) superfamily_cNMP_binding EPB41L1 2036 genome.wustl.edu 37 20 34776333 34776333 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012156.2 +1 reviewed p.R313Q 1.000 63 0% 47 61.7% 23 43.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_C,superfamily_PH domain-like EPB41L1 2036 genome.wustl.edu 37 20 34785863 34785863 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012156.2 +1 reviewed p.S523N 1.000 49 0% 27 44.4% 20 50% possibly_damaging(0.649) tolerated(0.08) deleterious(0.528) HMMPfam_SAB EPB41L1 2036 genome.wustl.edu 37 20 34797684 34797684 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012156.2 +1 reviewed p.S648I 1.000 8 0.000 9 0.556 4 0% benign(0.15) tolerated(0.2) neutral(0.062) NULL NDRG3 57446 genome.wustl.edu 37 20 35312837 35312837 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032013.2 -1 validated p.P121H 0.950 134 0% 68 39.7% 40 52.5% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Ndr,superfamily_alpha/beta-Hydrolases SOGA1 140710 genome.wustl.edu 37 20 35438451 35438451 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199181.2 -1 validated p.E601 1.000 28 0% 23 43.5% 5 20% - - - NULL SRC 6714 genome.wustl.edu 37 20 36022344 36022344 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005417.3 +1 reviewed p.G133C 1.000 16 0% 19 42.1% 35 37.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain RPRD1B 58490 genome.wustl.edu 37 20 36694550 36694550 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021215.3 +1 validated p.N241 1.000 80 0% 26 46.2% 5 60% - - - NULL LBP 3929 genome.wustl.edu 37 20 36993349 36993349 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004139.2 +1 reviewed p.T288 0.350 151 0% 107 49.5% 0 - - - - HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI RALGAPB 57148 genome.wustl.edu 37 20 37179733 37179733 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020336.2 +1 validated p.R1010H 1.000 230 0% 78 37.2% 10 40% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RALGAPB 57148 genome.wustl.edu 37 20 37187011 37187011 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020336.2 +1 validated p.I1149T 1.000 385 0% 153 43.8% 15 40% benign(0.01) deleterious(0) neutral(0.445) superfamily_Rap/Ran-GAP (Pfam 02145) ACTR5 79913 genome.wustl.edu 37 20 37380858 37380858 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024855.3 +1 validated p.Y230 0.561 65 0% 48 50% 5 40% - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 PPP1R16B 26051 genome.wustl.edu 37 20 37535682 37535682 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000438192 +1 known p.W195* 1.000 97 0% 79 50.6% 1 0% possibly_damaging(0.9) deleterious(0.04) deleterious(0.706) superfamily_Ankyrin repeat PPP1R16B 26051 genome.wustl.edu 37 20 37547290 37547290 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015568.2 +1 reviewed p.G562D 1.000 55 0% 32 40.6% 0 - possibly_damaging(0.923) tolerated(0.63) neutral(0.376) NULL FAM83D 81610 genome.wustl.edu 37 20 37580267 37580267 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030919.2 +1 validated p.R318* 1.000 152 0% 100 37% 59 59.3% - - - HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease FAM83D 81610 genome.wustl.edu 37 20 37580355 37580355 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030919.2 +1 validated p.R347Q 0.868 85 1.2% 81 42% 44 47.7% benign(0.025) tolerated(0.38) neutral(0.019) NULL DHX35 60625 genome.wustl.edu 37 20 37623523 37623523 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021931.2 +1 reviewed p.D214 1.000 255 0% 101 37.6% 3 33.3% - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PLCG1 5335 genome.wustl.edu 37 20 39802951 39802951 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002660.2 +1 reviewed p.R1278K 1.000 20 0% 22 45.5% 36 0% benign(0.004) tolerated(0.06) neutral(0.323) NULL ZHX3 23051 genome.wustl.edu 37 20 39833228 39833228 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015035.3 -1 reviewed p.V110A 0.999 120 0.8% 72 52.8% 4 50% benign(0.052) deleterious(0.01) neutral(0.409) HMMSmart_ZnF_C2H2 PTPRT 11122 genome.wustl.edu 37 20 40714413 40714413 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000454126 -1 known p.T947M 0.013 45 0% 26 53.8% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRT 11122 genome.wustl.edu 37 20 40714425 40714425 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000454126 -1 known p.P943L 0.005 43 0% 25 52% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRT 11122 genome.wustl.edu 37 20 41306506 41306506 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133170.3 -1 reviewed p.D385Y 1.000 30 0% 12 33.3% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMSmart_SM00060,superfamily_Fibronectin type III L3MBTL1 26013 genome.wustl.edu 37 20 42169422 42169422 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015478.5 +1 reviewed p.G697 1.000 70 0% 49 10.2% 7 14.2% - - - NULL YWHAB 7529 genome.wustl.edu 37 20 43530282 43530282 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003404.3 +1 reviewed p.H36 0.032 41 0% 15 40% 141 48.2% - - - HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein PABPC1L 80336 genome.wustl.edu 37 20 43541468 43541468 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001124756.1 +1 provisional p.T121A 0.853 157 0% 89 39.3% 17 41.1% benign(0) tolerated(1) - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 STK4 6789 genome.wustl.edu 37 20 43610568 43610568 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006282.2 +1 reviewed p.R115Q 1.000 465 0.2% 248 40.7% 4 25% probably_damaging(0.998) tolerated(0.22) deleterious(0.516) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MATN4 8785 genome.wustl.edu 37 20 43926569 43926569 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003833.3 -1 reviewed p.S523N 1.000 18 0% 23 47.8% 1 100% benign(0.001) tolerated(0.56) neutral(0.006) HMMSmart_VWA,superfamily_SSF53300 SPINLW1 57119 genome.wustl.edu 37 20 44171499 44171499 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020398.2 -1 reviewed p.C77 0.031 129 0% 60 28.3% 0 - - - - HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,superfamily_BPTI-like WFDC10B 280664 genome.wustl.edu 37 20 44313516 44313516 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172131.2 -1 reviewed p.I75L 0.000 155 0% 58 41.4% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL DNTTIP1 116092 genome.wustl.edu 37 20 44421339 44421339 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000456939 +1 known p.A27T 1.000 15 0% 20 40% 5 0% - - - NULL DNTTIP1 116092 genome.wustl.edu 37 20 44424011 44424011 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052951.2 +1 validated p.R101* 0.955 43 0% 30 33.3% 21 0% - - - NULL NEURL2 140825 genome.wustl.edu 37 20 44518990 44518990 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080749.2 -1 validated p.G214D 1.000 9 0.000 16 0.312 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF335 63925 genome.wustl.edu 37 20 44578879 44578879 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022095.3 -1 reviewed p.E1156K 1.000 66 0% 63 38.1% 25 48% possibly_damaging(0.895) deleterious(0) deleterious(0.797) NULL ZNF335 63925 genome.wustl.edu 37 20 44581339 44581339 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022095.3 -1 reviewed p.P904 0.843 44 0% 39 48.7% 10 30% - - - NULL ZNF335 63925 genome.wustl.edu 37 20 44586554 44586554 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022095.3 -1 reviewed p.A756V 0.230 21 0% 32 40.6% 10 60% benign(0.002) deleterious(0.03) neutral(0.364) NULL SLC12A5 57468 genome.wustl.edu 37 20 44663663 44663663 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134771.1 +1 reviewed p.K66N 1.000 107 0% 86 38.4% 0 - possibly_damaging(0.507) tolerated(0.22) neutral(0.212) NULL SLC12A5 57468 genome.wustl.edu 37 20 44685545 44685545 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001134771.1 +1 reviewed p.E1063 1.000 327 0% 242 40.1% 0 - - - - NULL CDH22 64405 genome.wustl.edu 37 20 44815483 44815483 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021248.1 -1 reviewed p.E509D 1.000 83 0% 65 43.1% 0 - possibly_damaging(0.667) tolerated(0.09) deleterious(0.532) HMMPfam_Cadherin,superfamily_Cadherin-like SLC35C2 51006 genome.wustl.edu 37 20 44985252 44985252 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015945.10 -1 reviewed p.G99D 1.000 24 0% 10 60% 52 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF334 55713 genome.wustl.edu 37 20 45130368 45130368 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018102.3 -1 validated p.R537K 0.528 111 0% 67 37.3% 1 0% benign(0.279) tolerated(0.08) neutral(0.330) superfamily_SSF57667 EYA2 2139 genome.wustl.edu 37 20 45725802 45725802 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005244.4 +1 reviewed p.G295R 1.000 215 0.5% 127 44.1% 40 85% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Hydrolase EYA2 2139 genome.wustl.edu 37 20 45797842 45797842 + Nonsense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005244.4 +1 reviewed p.L345* 1.000 165 0% 117 48.7% 39 17.9% - - - HMMPfam_Hydrolase ZMYND8 23613 genome.wustl.edu 37 20 45865096 45865096 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183047.1 -1 reviewed p.A898T 1.000 64 0% 61 49.2% 25 60% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL ZMYND8 23613 genome.wustl.edu 37 20 45865120 45865120 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183047.1 -1 reviewed p.A890T 1.000 66 0% 62 30.6% 39 38.4% possibly_damaging(0.856) tolerated(0.1) deleterious(0.617) NULL ZMYND8 23613 genome.wustl.edu 37 20 45927476 45927476 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000467200 -1 known p.*57R 1.000 93 0% 43 14% 25 0% - - - superfamily_Bromodomain,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD ZMYND8 23613 genome.wustl.edu 37 20 45938875 45938875 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_183047.1 -1 reviewed p.S53 0.974 175 0% 123 41.5% 10 50% - - - NULL NCOA3 8202 genome.wustl.edu 37 20 46279875 46279875 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181659.2 +1 reviewed p.Q1267H 0.996 50 0% 35 37.1% 20 30% possibly_damaging(0.677) tolerated(0.33) neutral(0.265) NULL SULF2 55959 genome.wustl.edu 37 20 46294679 46294679 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018837.3 -1 validated p.N608 0.515 94 0% 92 29.3% 5 20% - - - superfamily_Alkaline phosphatase-like SULF2 55959 genome.wustl.edu 37 20 46301015 46301015 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018837.3 -1 validated p.S501 0.972 16 0% 23 39.1% 1 0% - - - superfamily_Alkaline phosphatase-like PREX1 57580 genome.wustl.edu 37 20 47260992 47260992 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020820.3 -1 reviewed p.V1186M 1.000 51 0% 39 41% 6 0% benign(0.293) deleterious(0) deleterious(0.535) NULL PREX1 57580 genome.wustl.edu 37 20 47307579 47307579 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020820.3 -1 reviewed p.T364 0.078 91 0% 67 43.3% 5 40% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARFGEF2 10564 genome.wustl.edu 37 20 47570259 47570259 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006420.2 +1 reviewed p.R257M 0.000 128 0% 70 12.9% 8 0% benign(0.079) tolerated(0.1) neutral(0.292) superfamily_ARM-type_fold ZNFX1 57169 genome.wustl.edu 37 20 47865238 47865238 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021035.2 -1 validated p.C1441 0.268 25 0% 28 50% 14 14.2% - - - HMMPfam_zf-NF-X1 ZNFX1 57169 genome.wustl.edu 37 20 47865859 47865859 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021035.2 -1 validated p.M1234I 1.000 48 0% 27 48.1% 24 41.6% benign(0.002) tolerated(0.11) neutral(0.272) superfamily_P-loop containing nucleoside triphosphate hydrolases KCNB1 3745 genome.wustl.edu 37 20 47990588 47990588 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004975.2 -1 reviewed p.S503 1.000 283 0% 154 40.9% 0 - - - - HMMPfam_Kv2channel PTPN1 5770 genome.wustl.edu 37 20 49197868 49197868 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002827.2 +1 reviewed p.A385 0.000 23 0% 32 21.9% 28 3.5% - - - NULL PTPN1 5770 genome.wustl.edu 37 20 49197898 49197898 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002827.2 +1 reviewed p.P395 0.000 25 0% 32 37.5% 26 42.3% - - - NULL PARD6B 84612 genome.wustl.edu 37 20 49366426 49366426 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032521.2 +1 reviewed p.R174W 1.000 90 0% 55 34.5% 10 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ ADNP 23394 genome.wustl.edu 37 20 49510613 49510613 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015339.2 -1 reviewed p.S213L 0.996 144 0% 66 39.4% 30 53.3% possibly_damaging(0.685) tolerated(0.22) neutral(0.286) NULL KCNG1 3755 genome.wustl.edu 37 20 49626090 49626090 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000396017 -1 known p.H262 0.000 18 0% 20 55% 0 - - - - NULL NFATC2 4773 genome.wustl.edu 37 20 50049117 50049117 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173091.2 -1 reviewed p.S737P 0.468 8 0.000 10 0.400 0 - benign(0.001) tolerated(0.48) neutral(0.011) NULL ATP9A 10079 genome.wustl.edu 37 20 50225083 50225083 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006045.1 -1 validated p.P907T 1.000 186 0% 105 41.9% 17 64.7% probably_damaging(0.988) deleterious(0.03) deleterious(0.802) NULL SALL4 57167 genome.wustl.edu 37 20 50401180 50401180 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020436.3 -1 reviewed p.R929H 1.000 86 0% 83 50.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SALL4 57167 genome.wustl.edu 37 20 50406596 50406596 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020436.3 -1 reviewed p.A809V 0.015 43 0% 31 58.1% 2 100% benign(0.001) tolerated(0.28) neutral(0.032) NULL SALL4 57167 genome.wustl.edu 37 20 50407920 50407920 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020436.3 -1 reviewed p.A368T 0.121 42 0% 40 25% 0 - benign(0.001) tolerated(0.48) neutral(0.011) NULL SALL4 57167 genome.wustl.edu 37 20 50407921 50407921 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020436.3 -1 reviewed p.S367 0.042 43 0% 41 29.3% 0 - - - - NULL ZFP64 55734 genome.wustl.edu 37 20 50701461 50701461 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199427.2 -1 validated p.C525R 1.000 8 0.000 9 0.444 4 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TSHZ2 128553 genome.wustl.edu 37 20 51870399 51870399 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173485.4 +1 validated p.S134 0.070 40 0% 33 48.5% 4 50% - - - NULL TSHZ2 128553 genome.wustl.edu 37 20 51870455 51870455 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173485.4 +1 validated p.R153M 0.999 33 0% 33 42.4% 5 0% possibly_damaging(0.819) deleterious(0.04) deleterious(0.658) NULL TSHZ2 128553 genome.wustl.edu 37 20 51870547 51870547 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173485.4 +1 validated p.R184W 0.019 23 0% 27 44.4% 3 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL TSHZ2 128553 genome.wustl.edu 37 20 51871288 51871288 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173485.4 +1 validated p.S431P 1.000 48 0% 39 35.9% 3 66.6% possibly_damaging(0.491) tolerated(0.06) deleterious(0.486) NULL TSHZ2 128553 genome.wustl.edu 37 20 51872343 51872343 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173485.4 +1 validated p.S782 0.996 53 0% 42 38.1% 9 55.5% - - - NULL ZNF217 7764 genome.wustl.edu 37 20 52198114 52198114 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006526.2 -1 validated p.G418R 0.606 21 0% 28 42.9% 27 40.7% benign(0.004) tolerated(0.44) neutral(0.013) NULL CBLN4 140689 genome.wustl.edu 37 20 54579144 54579144 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080617.4 -1 reviewed p.Q28 1.000 11 0% 20 20% 0 - - - - NULL FAM210B 116151 genome.wustl.edu 37 20 54941214 54941214 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080821.2 +1 validated p.F150 0.666 173 0% 94 39.4% 18 0% - - - HMMPfam_DUF1279 CASS4 57091 genome.wustl.edu 37 20 55027369 55027369 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020356.3 +1 validated p.H379 0.000 24 0% 18 22.2% 0 - - - - NULL CASS4 57091 genome.wustl.edu 37 20 55033421 55033421 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020356.3 +1 validated p.P660L 0.000 118 0% 66 51.5% 0 - benign(0.032) deleterious(0.04) neutral(0.350) NULL CASS4 57091 genome.wustl.edu 37 20 55033505 55033505 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020356.3 +1 validated p.S688I 0.016 59 0% 46 10.9% 0 - possibly_damaging(0.819) tolerated(0.07) deleterious(0.629) NULL GCNT7 140687 genome.wustl.edu 37 20 55072246 55072246 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000243913 -1 known p.I18S 1.000 67 0% 37 16.2% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Branch FAM209B 388799 genome.wustl.edu 37 20 55108525 55108525 + Missense_Mutation SNP G G A rs192848959 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013646.2 +1 predicted p.R43Q 0.729 166 0% 107 36.4% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL TFAP2C 7022 genome.wustl.edu 37 20 55206907 55206907 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003222.3 +1 reviewed p.R194H 1.000 47 0% 40 32.5% 13 53.8% possibly_damaging(0.929) deleterious(0) deleterious(0.821) NULL BMP7 655 genome.wustl.edu 37 20 55840807 55840807 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001719.2 -1 reviewed p.S124R 1.000 14 0% 12 41.7% 4 75% possibly_damaging(0.579) tolerated(0.24) neutral(0.237) HMMPfam_TGFb_propeptide RAE1 8480 genome.wustl.edu 37 20 55940437 55940437 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001015885.1 +1 reviewed p.S105L 0.999 103 0% 40 45% 47 55.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 CTCFL 140690 genome.wustl.edu 37 20 56073639 56073639 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080618.2 -1 reviewed p.T653 0.594 77 0% 39 33.3% 0 - - - - NULL PCK1 5105 genome.wustl.edu 37 20 56137814 56137814 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002591.3 +1 reviewed p.G157S 1.000 8 0.000 13 0.462 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PEPCK,superfamily_PEP_carboxykinase_N ZBP1 81030 genome.wustl.edu 37 20 56188325 56188325 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030776.2 -1 validated p.M188I 1.000 205 0% 139 41% 0 - benign(0.003) deleterious(0.03) neutral(0.364) NULL ANKRD60 140731 genome.wustl.edu 37 20 56796394 56796394 + Missense_Mutation SNP C C T rs151327674 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001134442.3 -1 model p.G243R 0.998 80 0% 56 37.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK RAB22A 57403 genome.wustl.edu 37 20 56928574 56928574 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020673.2 +1 reviewed p.K119 1.000 313 0.3% 140 16.4% 23 30.4% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases GNAS 2778 genome.wustl.edu 37 20 57428747 57428747 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080425.2 +1 reviewed p.A143T 0.013 19 0% 16 56.2% 0 - unknown(0) tolerated(1) - NULL GNAS 2778 genome.wustl.edu 37 20 57430359 57430359 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080425.2 +1 reviewed p.Y680C 0.152 15 0% 12 50% 0 - probably_damaging(0.965) tolerated(0.08) deleterious(0.707) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases GNAS 2778 genome.wustl.edu 37 20 57470709 57470709 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080425.2 +1 reviewed p.R704K 1.000 242 0% 154 42.9% 1089 46.7% benign(0.097) tolerated(0.68) neutral(0.009) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases TUBB1 81027 genome.wustl.edu 37 20 57598987 57598987 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030773.2 +1 validated p.V169I 1.000 40 0% 40 50% 0 - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ ZNF831 128611 genome.wustl.edu 37 20 57768569 57768569 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178457.1 +1 provisional p.S832I 0.000 14 0% 23 34.8% 0 - benign(0.074) tolerated(0.07) neutral(0.324) NULL ZNF831 128611 genome.wustl.edu 37 20 57769124 57769124 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178457.1 +1 provisional p.R1017I 0.000 10 0% 16 50% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ZNF831 128611 genome.wustl.edu 37 20 57829637 57829637 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178457.1 +1 provisional p.D1625Y 0.002 62 0% 29 27.6% 0 - probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL PHACTR3 116154 genome.wustl.edu 37 20 58420270 58420270 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080672.3 +1 reviewed p.E538 1.000 209 0% 53 35.8% 0 - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58444983 58444983 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014258.2 -1 reviewed p.S1204Y 0.004 696 0% 146 37% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL SYCP2 10388 genome.wustl.edu 37 20 58467646 58467646 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014258.2 -1 reviewed p.S635L 0.024 331 0.3% 91 40.7% 0 - benign(0.001) tolerated(0.49) neutral(0.011) NULL SYCP2 10388 genome.wustl.edu 37 20 58491541 58491541 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014258.2 -1 reviewed p.E171D 1.000 317 0% 118 45.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CDH4 1002 genome.wustl.edu 37 20 60348142 60348142 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001794.2 +1 reviewed p.N160 0.000 11 0% 13 46.2% 0 - - - - superfamily_Cadherin TAF4 6874 genome.wustl.edu 37 20 60574046 60574046 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003185.3 -1 reviewed p.A969V 1.000 44 0% 37 16.2% 22 18.1% possibly_damaging(0.924) tolerated(0.07) deleterious(0.692) HMMPfam_TAF4 PSMA7 5688 genome.wustl.edu 37 20 60713283 60713283 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002792.2 -1 reviewed p.E179K 1.000 73 0% 53 56.6% 373 40.4% benign(0.205) tolerated(0.22) neutral(0.062) HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) SS18L1 26039 genome.wustl.edu 37 20 60749652 60749652 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198935.1 +1 validated p.P372 0.517 9 0.000 14 0.429 21 57.1% - - - NULL GTPBP5 26164 genome.wustl.edu 37 20 60773900 60773900 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015666.3 +1 validated p.A227T 1.000 18 0% 20 60% 13 46.1% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_MMR_HSR1,superfamily_SSF52540 ADRM1 11047 genome.wustl.edu 37 20 60881358 60881358 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007002.2 +1 reviewed p.E146K 1.000 42 0% 26 26.9% 89 41.5% unknown(0) tolerated(0.19) - HMMPfam_ARM_1 LAMA5 3911 genome.wustl.edu 37 20 60886294 60886294 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005560.3 -1 reviewed p.R3338* 0.000 28 0% 15 46.7% 49 18.3% - - - superfamily_Concanavalin A-like lectins/glucanases LAMA5 3911 genome.wustl.edu 37 20 60887319 60887319 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005560.3 -1 reviewed p.S3138 0.000 7 0.000 13 0.538 69 75.3% - - - superfamily_Concanavalin A-like lectins/glucanases LAMA5 3911 genome.wustl.edu 37 20 60899543 60899543 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005560.3 -1 reviewed p.C1866Y 1.000 12 0% 12 50% 18 72.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin C20orf166 128826 genome.wustl.edu 37 20 61162242 61162242 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178463.3 +1 validated p.A19T 0.000 15 6.7% 19 31.6% 0 - benign(0.063) - - NULL LOC100127888 100127888 genome.wustl.edu 37 20 61296588 61296588 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_024470.1 -1 validated NULL 0.000 12 0% 27 33.3% 0 - - - - - SLCO4A1 28231 genome.wustl.edu 37 20 61299371 61299371 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016354.3 +1 validated p.R549L 0.991 215 0% 159 45.9% 7 14.2% - - - HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors SLCO4A1 28231 genome.wustl.edu 37 20 61300302 61300302 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016354.3 +1 validated p.A633T 1.000 11 0% 12 41.7% 5 40% unknown(0) tolerated(0.12) - HMMPfam_OATP,superfamily_MFS general substrate transporter C20orf20 55257 genome.wustl.edu 37 20 61430837 61430837 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018270.4 +1 validated p.A153S 0.731 108 0% 77 19.5% 25 20% benign(0.03) tolerated(0.67) neutral(0.004) NULL DIDO1 11083 genome.wustl.edu 37 20 61513033 61513033 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033081.1 -1 reviewed p.A1425 0.843 29 3.4% 28 50% 18 55.5% - - - NULL DIDO1 11083 genome.wustl.edu 37 20 61542423 61542423 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033081.1 -1 reviewed p.L181R 0.000 30 0% 31 22.6% 10 30% possibly_damaging(0.948) deleterious(0.04) deleterious(0.740) NULL C20orf11 54994 genome.wustl.edu 37 20 61574981 61574981 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017896.2 +1 validated p.L150 1.000 12 0% 11 36.4% 73 52% - - - HMMSmart_CRA,HMMPfam_RanBPM_CRA COL20A1 57642 genome.wustl.edu 37 20 61943789 61943789 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020882.2 +1 validated p.N607 0.000 31 0% 18 27.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COL20A1 57642 genome.wustl.edu 37 20 61947977 61947977 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020882.2 +1 validated p.P866L 0.999 13 0% 20 45% 0 - possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMSmart_SM00210 CHRNA4 1137 genome.wustl.edu 37 20 61981062 61981062 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000744.5 -1 reviewed p.A567 0.375 6 0.000 20 0.400 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM CHRNA4 1137 genome.wustl.edu 37 20 61982034 61982034 + Silent SNP C C T rs121912253 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000744.5 -1 reviewed p.P243 0.016 113 0% 112 46.4% 0 - - - - superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD PTK6 5753 genome.wustl.edu 37 20 62164986 62164986 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005975.2 -1 reviewed p.K196N 1.000 27 0% 26 30.8% 0 - benign(0.268) deleterious(0) deleterious(0.473) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like,superfamily_SSF55550 SRMS 6725 genome.wustl.edu 37 20 62172312 62172312 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080823.2 -1 provisional p.G442 0.130 11 0.000 9 0.556 6 100% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like ZGPAT 84619 genome.wustl.edu 37 20 62366577 62366577 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032527.3 +1 validated p.S373L 1.000 12 0.000 6 0.667 37 32.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-patch,HMMSmart_SM00443 RGS19 10287 genome.wustl.edu 37 20 62708236 62708236 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005873.2 -1 reviewed p.P2S 1.000 6 0.000 7 0.571 12 41.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MYT1 4661 genome.wustl.edu 37 20 62839375 62839375 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004535.2 +1 reviewed p.E276* 0.669 17 0% 11 45.5% 0 - - - - NULL MYT1 4661 genome.wustl.edu 37 20 62871130 62871130 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004535.2 +1 reviewed p.K1037N 0.976 32 0% 39 51.3% 0 - probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL PCMTD2 55251 genome.wustl.edu 37 20 62891427 62891427 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018257.2 +1 validated p.D37N 1.000 59 0% 35 48.6% 15 40% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_PCMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases TPTE 7179 genome.wustl.edu 37 21 10916378 10916378 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199261.2 -1 validated p.S423L 0.790 459 0% 155 16.1% 0 - probably_damaging(0.975) deleterious(0.04) deleterious(0.766) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 TPTE 7179 genome.wustl.edu 37 21 10920134 10920134 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199261.2 -1 validated p.T374A 0.950 868 0% 306 20.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_(Phosphotyrosine protein) phosphatases II TPTE 7179 genome.wustl.edu 37 21 10942714 10942714 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_199261.2 -1 validated p.T243A 1.000 719 0% 325 23.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_(Phosphotyrosine protein) phosphatases II SAMSN1 64092 genome.wustl.edu 37 21 15882740 15882740 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022136.3 -1 validated p.S151N 1.000 69 0% 50 44% 5 0% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) superfamily_SH3-domain NRIP1 8204 genome.wustl.edu 37 21 16337281 16337281 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003489.3 -1 reviewed p.S1078Y 0.993 273 0% 110 54.5% 3 33.3% benign(0.341) deleterious(0.02) deleterious(0.490) NULL NRIP1 8204 genome.wustl.edu 37 21 16339171 16339171 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003489.3 -1 reviewed p.R448Q 0.998 267 0.4% 118 48.3% 5 60% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL USP25 29761 genome.wustl.edu 37 21 17197304 17197304 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013396.3 +1 validated p.E410K 1.000 347 0% 85 48.2% 9 44.4% benign(0.285) tolerated(0.12) neutral(0.348) HMMPfam_UCH,superfamily_Cysteine proteinases USP25 29761 genome.wustl.edu 37 21 17236703 17236703 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013396.3 +1 validated p.K818N 1.000 267 0% 104 37.5% 5 40% possibly_damaging(0.564) tolerated(0.07) deleterious(0.512) NULL USP25 29761 genome.wustl.edu 37 21 17250741 17250741 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013396.3 +1 validated p.R1039* 1.000 160 0% 79 40.5% 37 48.6% - - - NULL MIR99A 407055 genome.wustl.edu 37 21 17911477 17911477 + RNA SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000384906 +1 known NULL 1.000 143 0% 55 45.5% 0 - - - - - TMPRSS15 5651 genome.wustl.edu 37 21 19651373 19651373 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002772.2 -1 reviewed p.Y891C 1.000 285 0% 121 43.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases MRPL39 54148 genome.wustl.edu 37 21 26972138 26972138 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080794.3 -1 reviewed p.S187 0.996 244 0% 122 17.2% 51 15.6% - - - superfamily_ThrRS/AlaRS common domain MRPL39 54148 genome.wustl.edu 37 21 26978793 26978793 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080794.3 -1 reviewed p.K83T 1.000 187 0% 108 39.8% 44 54.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_TGS ATP5J 522 genome.wustl.edu 37 21 27102074 27102074 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003701.1 -1 reviewed p.S19Y 0.999 152 0% 77 45.5% 413 49.6% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL GABPA 2551 genome.wustl.edu 37 21 27137092 27137092 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002040.3 +1 validated p.A377V 1.000 139 0% 27 18.5% 16 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,superfamily_""Winged helix"" DNA-binding domain" APP 351 genome.wustl.edu 37 21 27327992 27327992 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000448850 -1 known p.R415* 0.997 171 0% 106 43.4% 425 37.4% - - - superfamily_CAPPD an extracellular domain of amyloid beta A4 protein ADAMTS5 11096 genome.wustl.edu 37 21 28302336 28302336 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007038.3 -1 reviewed p.C698 0.654 90 0% 34 14.7% 3 33.3% - - - NULL RWDD2B 10069 genome.wustl.edu 37 21 30380363 30380363 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016940.2 -1 validated p.D148E 0.588 92 0% 95 10.5% 21 23.8% benign(0) tolerated(1) - HMMPfam_RWD,HMMSmart_RWD,superfamily_UBQ-conjugat/RWD-like USP16 10600 genome.wustl.edu 37 21 30419452 30419452 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001032410.1 +1 reviewed p.E607D 0.992 140 0% 62 35.5% 20 35% probably_damaging(0.969) tolerated(0.07) deleterious(0.730) HMMPfam_UCH,superfamily_Cysteine proteinases BACH1 571 genome.wustl.edu 37 21 30693729 30693729 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001186.2 +1 reviewed p.Q43R 0.229 50 2% 47 38.3% 6 16.6% benign(0.001) tolerated(0.72) neutral(0.002) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB BACH1 571 genome.wustl.edu 37 21 30698920 30698920 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001186.2 +1 reviewed p.S259P 0.000 46 0% 24 41.7% 7 28.5% benign(0.001) tolerated(0.17) neutral(0.059) NULL BACH1 571 genome.wustl.edu 37 21 30699416 30699416 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001186.2 +1 reviewed p.G424D 0.000 73 0% 35 42.9% 11 36.3% benign(0.026) tolerated(1) neutral(0.001) NULL BACH1 571 genome.wustl.edu 37 21 30701856 30701856 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001186.2 +1 reviewed p.D540Y 1.000 276 0% 107 48.6% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_A DNA-binding domain in eukaryotic transcription factors KRTAP27-1 643812 genome.wustl.edu 37 21 31709461 31709461 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077711.1 -1 provisional p.L176M 0.000 103 0% 46 21.7% 0 - benign(0.012) tolerated(0.17) neutral(0.059) HMMPfam_PMG KRTAP27-1 643812 genome.wustl.edu 37 21 31709534 31709534 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077711.1 -1 provisional p.F151 0.135 129 0% 55 36.4% 0 - - - - HMMPfam_PMG KRTAP13-4 284827 genome.wustl.edu 37 21 31803039 31803039 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181600.1 +1 provisional p.P149L 0.680 129 0% 66 48.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMG KRTAP6-3 337968 genome.wustl.edu 37 21 31964993 31964993 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181605.3 +1 validated p.D77H 0.705 112 0% 91 29.7% 0 - unknown(0) - - NULL TIAM1 7074 genome.wustl.edu 37 21 32503248 32503248 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003253.2 -1 validated p.V1301A 1.000 448 0% 180 16.1% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 SCAF4 57466 genome.wustl.edu 37 21 33044192 33044192 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020706.2 -1 reviewed p.R988 1.000 154 0% 111 46.8% 24 50% - - - NULL SCAF4 57466 genome.wustl.edu 37 21 33044520 33044520 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020706.2 -1 reviewed p.R879H 0.994 15 0% 24 33.3% 26 46.1% unknown(0) deleterious(0.02) - NULL SCAF4 57466 genome.wustl.edu 37 21 33060695 33060695 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020706.2 -1 reviewed p.S656 0.935 454 0% 233 40.8% 41 43.9% - - - NULL URB1 9875 genome.wustl.edu 37 21 33757950 33757950 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014825.2 -1 validated p.E62D 0.429 276 0% 144 41% 2 0% possibly_damaging(0.452) tolerated(0.39) neutral(0.164) NULL C21orf63 59271 genome.wustl.edu 37 21 33840090 33840090 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_058187.3 +1 validated p.T190A 0.045 74 0% 43 39.5% 13 46.1% benign(0) tolerated(0.64) neutral(0.003) HMMPfam_Gal_Lectin C21orf62 56245 genome.wustl.edu 37 21 34166319 34166319 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000479548 -1 known p.Q138H 0.996 109 0% 46 43.5% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL IFNAR2 3455 genome.wustl.edu 37 21 34614192 34614192 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000447980 +1 known p.C13G 0.814 249 0% 128 38.3% 8 50% unknown(0) - - NULL IFNAR1 3454 genome.wustl.edu 37 21 34717639 34717639 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000629.2 +1 reviewed p.N254S 0.061 412 0.2% 184 46.2% 19 52.6% benign(0.103) tolerated(0.15) neutral(0.249) superfamily_Fibronectin type III IFNGR2 3460 genome.wustl.edu 37 21 34804627 34804627 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000421802 +1 known p.T1M 0.001 108 0% 49 28.6% 50 28% - - - NULL GART 2618 genome.wustl.edu 37 21 34889717 34889717 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000819.4 -1 reviewed p.S634Y 0.988 166 0% 101 42.6% 40 45% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like GART 2618 genome.wustl.edu 37 21 34903156 34903156 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000819.4 -1 reviewed p.P211L 0.994 34 0% 28 42.9% 52 42.3% benign(0.02) deleterious(0) neutral(0.446) HMMPfam_GARS_A,superfamily_Glutathione synthetase ATP-binding domain-like SON 6651 genome.wustl.edu 37 21 34923936 34923936 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138927.1 +1 reviewed p.S800Y 1.000 117 0% 84 44% 73 49.3% probably_damaging(0.977) deleterious(0) deleterious(0.863) NULL ITSN1 6453 genome.wustl.edu 37 21 35094914 35094914 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003024.2 +1 reviewed p.F48C 1.000 505 0% 174 35.6% 6 100% unknown(0) deleterious(0) - HMMSmart_SM00027,superfamily_EF-hand ITSN1 6453 genome.wustl.edu 37 21 35124114 35124114 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003024.2 +1 reviewed e6-1 0.999 354 0% 137 43.1% 0 - - - - - ITSN1 6453 genome.wustl.edu 37 21 35172208 35172208 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003024.2 +1 reviewed p.T760I 0.979 170 0% 94 41.5% 10 80% probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ATP5O 539 genome.wustl.edu 37 21 35279737 35279737 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001697.2 -1 reviewed p.R117* 1.000 86 1.2% 51 31.4% 249 1.6% - - - HMMPfam_OSCP,superfamily_N-terminal domain of the delta subunit of the F1F0-ATP synthase KCNE1 3753 genome.wustl.edu 37 21 35821804 35821804 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000219.3 -1 reviewed p.E43D 0.888 17 0% 21 23.8% 0 - benign(0.026) tolerated(0.19) neutral(0.051) HMMPfam_ISK_Channel SETD4 54093 genome.wustl.edu 37 21 37416242 37416242 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017438.3 -1 validated p.F247L 0.998 218 0% 93 46.2% 22 27.2% probably_damaging(0.994) deleterious(0.05) deleterious(0.797) HMMPfam_SET,superfamily_SET domain SETD4 54093 genome.wustl.edu 37 21 37431181 37431181 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017438.3 -1 validated p.Q2 0.927 582 0% 320 42.2% 2 0% - - - NULL DOPEY2 9980 genome.wustl.edu 37 21 37617485 37617485 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005128.2 +1 validated p.A1069 0.346 18 0% 11 36.4% 2 0% - - - NULL MORC3 23515 genome.wustl.edu 37 21 37711196 37711196 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015358.2 +1 reviewed p.R195S 0.998 95 1.1% 41 9.8% 6 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_ATP_bd_ATPase MORC3 23515 genome.wustl.edu 37 21 37744698 37744698 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015358.2 +1 reviewed p.S845 0.998 357 0% 153 43.1% 17 41.1% - - - NULL MORC3 23515 genome.wustl.edu 37 21 37747485 37747485 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015358.2 +1 reviewed p.A904V 0.996 241 0% 121 12.4% 16 18.7% probably_damaging(0.955) tolerated(0.36) neutral(0.419) NULL CHAF1B 8208 genome.wustl.edu 37 21 37781718 37781718 + Missense_Mutation SNP C C T rs140663225 TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005441.2 +1 reviewed p.R292C 1.000 83 0% 66 45.5% 17 58.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like HLCS 3141 genome.wustl.edu 37 21 38302694 38302694 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000411.5 -1 reviewed p.T346P 0.001 243 0% 116 41.4% 17 41.1% possibly_damaging(0.455) tolerated(0.22) neutral(0.191) NULL HLCS 3141 genome.wustl.edu 37 21 38309057 38309057 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000411.5 -1 reviewed p.Y230H 0.000 40 0% 33 45.5% 17 23.5% benign(0) tolerated(0.3) neutral(0.029) NULL HLCS 3141 genome.wustl.edu 37 21 38309482 38309482 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000411.5 -1 reviewed p.D88G 0.000 50 0% 36 36.1% 10 30% benign(0.025) tolerated(0.09) neutral(0.297) NULL PIGP 51227 genome.wustl.edu 37 21 38437918 38437918 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153681.2 -1 reviewed p.F147L 1.000 563 0% 275 48.4% 15 40% benign(0.001) tolerated(1) - HMMPfam_PIG-P TTC3 7267 genome.wustl.edu 37 21 38467732 38467732 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001894.1 +1 validated p.A257V 1.000 272 0% 90 38.9% 10 30% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38498384 38498384 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001894.1 +1 validated p.A413V 0.000 207 0.5% 119 44.5% 44 54.5% benign(0) tolerated(0.19) neutral(0.050) superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38537997 38537997 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001894.1 +1 validated p.R1161C 1.000 285 0% 132 38.6% 42 35.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Spectrin,superfamily_SSF48452 KCNJ15 3772 genome.wustl.edu 37 21 39672183 39672183 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002243.3 +1 reviewed p.R334W 1.000 91 0% 64 43.8% 0 - probably_damaging(0.997) tolerated(0.12) deleterious(0.727) HMMPfam_IRK,superfamily_Ig_E-set ETS2 2114 genome.wustl.edu 37 21 40185002 40185002 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005239.4 +1 validated p.Q50* 1.000 209 0% 140 45.7% 100 46% - - - NULL BRWD1 54014 genome.wustl.edu 37 21 40559237 40559237 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018963.3 -1 reviewed p.V2226 0.110 285 0% 145 41.4% 4 75% - - - superfamily_WD40 repeat-like BRWD1 54014 genome.wustl.edu 37 21 40570816 40570816 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018963.3 -1 reviewed p.M1842I 0.000 233 0% 85 50.6% 6 33.3% benign(0.002) tolerated(0.34) neutral(0.023) superfamily_WD40 repeat-like LCA5L 150082 genome.wustl.edu 37 21 40777929 40777929 + Missense_Mutation SNP G G A rs144695121 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152505.3 -1 validated p.S631L 0.000 119 0% 51 47.1% 0 - benign(0) tolerated(0.25) neutral(0.037) NULL C21orf88 114041 genome.wustl.edu 37 21 40984233 40984233 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000380612 -1 known p.G20 0.000 31 0% 23 47.8% 0 - - - - NULL DSCAM 1826 genome.wustl.edu 37 21 41719861 41719861 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001389.3 -1 validated p.A316S 1.000 114 0% 41 46.3% 0 - benign(0.314) tolerated(0.09) neutral(0.394) superfamily_Immunoglobulin MX2 4600 genome.wustl.edu 37 21 42749778 42749778 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002463.1 +1 reviewed p.I104 0.980 24 0% 22 50% 0 - - - - HMMSmart_DYNc,superfamily_SSF52540 LOC100288709 100288709 genome.wustl.edu 37 21 42839636 42839636 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343746.1 +1 model p.Q12H 0.000 82 0% 71 43.7% 1 100% - - - NULL TMPRSS2 7113 genome.wustl.edu 37 21 42861455 42861455 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005656.3 -1 reviewed p.A102T 0.001 41 0% 37 51.4% 19 26.3% benign(0.005) tolerated(0.16) neutral(0.059) NULL RIPK4 54101 genome.wustl.edu 37 21 43166043 43166043 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000352483 -1 known p.C319Y 0.000 114 0% 66 45.5% 0 - possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL PRDM15 63977 genome.wustl.edu 37 21 43230645 43230645 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022115.3 -1 validated p.Y1205 1.000 13 0% 21 33.3% 5 60% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 C21orf128 150147 genome.wustl.edu 37 21 43522542 43522542 + RNA SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_027243.1 -1 validated NULL 0.000 5 0.000 8 0.500 0 - - - - - UMODL1 89766 genome.wustl.edu 37 21 43524014 43524014 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173568.3 +1 validated p.Y446H 0.002 53 0% 65 15.4% 0 - benign(0.226) deleterious(0) neutral(0.467) HMMPfam_SEA,superfamily_SEA domain UMODL1 89766 genome.wustl.edu 37 21 43539358 43539358 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173568.3 +1 validated p.E999 0.432 56 0% 47 10.6% 0 - - - - HMMPfam_SEA TMPRSS3 64699 genome.wustl.edu 37 21 43809146 43809146 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024022.2 -1 reviewed p.D72N 1.000 56 0% 30 43.3% 5 40% benign(0.001) tolerated(0.3) neutral(0.029) HMMSmart_SM00192,superfamily_LDL receptor-like module SLC37A1 54020 genome.wustl.edu 37 21 43959695 43959695 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018964.3 +1 reviewed p.A142T 0.981 112 0% 90 42.2% 12 50% benign(0.014) tolerated(0.37) neutral(0.019) HMMPfam_MFS_1,superfamily_MFS general substrate transporter NDUFV3 4731 genome.wustl.edu 37 21 44323482 44323482 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021075.3 +1 reviewed p.T120 0.458 154 0% 105 42.9% 8 50% - - - NULL PDXK 8566 genome.wustl.edu 37 21 45165994 45165994 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003681.4 +1 reviewed p.G122 0.965 186 0% 190 14.2% 202 10.3% - - - superfamily_Ribokinase-like PWP2 5822 genome.wustl.edu 37 21 45537717 45537717 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005049.2 +1 validated p.E285* 1.000 126 0% 100 47% 11 36.3% - - - HMMSmart_WD40,superfamily_Peptidase_S9A_N,superfamily_WD40_like TRPM2 7226 genome.wustl.edu 37 21 45821610 45821610 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003307.3 +1 reviewed p.A790T 1.000 24 0% 38 44.7% 2 0% possibly_damaging(0.808) tolerated(0.44) neutral(0.317) NULL TSPEAR 54084 genome.wustl.edu 37 21 45941818 45941818 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144991.2 -1 provisional p.S505L 1.000 38 0% 60 48.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KRTAP10-5 386680 genome.wustl.edu 37 21 46000305 46000305 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198694.2 -1 reviewed p.C51R 0.624 17 0% 24 45.8% 0 - unknown(0) deleterious(0) - NULL ITGB2 3689 genome.wustl.edu 37 21 46306799 46306799 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000211.3 -1 reviewed p.N700S 0.761 14 0% 12 50% 37 2.7% benign(0.108) deleterious(0.01) neutral(0.414) HMMPfam_Integrin_B_tail POFUT2 23275 genome.wustl.edu 37 21 46705704 46705704 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_133635.4 -1 validated p.H91N 1.000 58 0% 40 50% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_O-FucT COL6A2 1292 genome.wustl.edu 37 21 47536579 47536579 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001849.3 +1 reviewed p.A314 0.029 7 0.000 16 0.500 59 0% - - - HMMPfam_Collagen PCNT 5116 genome.wustl.edu 37 21 47860968 47860968 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418394 +1 known p.R179Q 0.000 110 0% 89 56.2% 12 8.3% - - - HMMPfam_PACT_coil_coil DIP2A 23181 genome.wustl.edu 37 21 47910620 47910620 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015151.3 +1 reviewed p.R91C 1.000 42 0% 45 35.6% 13 61.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DMAP_binding DIP2A 23181 genome.wustl.edu 37 21 47918501 47918501 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015151.3 +1 reviewed p.S137L 1.000 23 0% 24 33.3% 5 60% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL DIP2A 23181 genome.wustl.edu 37 21 47949019 47949019 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015151.3 +1 reviewed p.R373W 1.000 195 0% 66 39.4% 3 66.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DIP2A 23181 genome.wustl.edu 37 21 47954542 47954542 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015151.3 +1 reviewed p.S528 0.997 39 0% 33 42.4% 11 27.2% - - - superfamily_Acetyl-CoA synthetase-like DIP2A 23181 genome.wustl.edu 37 21 47985693 47985693 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015151.3 +1 reviewed p.A1411V 0.999 24 0% 36 52.8% 24 41.6% possibly_damaging(0.738) tolerated(0.26) neutral(0.304) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like LOC729057 729057 genome.wustl.edu 37 22 16123763 16123763 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XR_042044.2 +1 model NULL 0.999 31 0% 41 14.6% 3 66.6% - - - - POTEH 23784 genome.wustl.edu 37 22 16266974 16266974 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136213.1 -1 provisional p.P492L 0.000 1103 0% 473 15.6% 1 0% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL POTEH 23784 genome.wustl.edu 37 22 16267047 16267047 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136213.1 -1 provisional p.E468K 0.095 1971 0.1% 727 16% 1 0% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) NULL POTEH 23784 genome.wustl.edu 37 22 16287405 16287405 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136213.1 -1 provisional p.D161N 0.000 179 0% 152 32.9% 1 0% possibly_damaging(0.779) deleterious(0.01) deleterious(0.697) superfamily_ANK POTEH 23784 genome.wustl.edu 37 22 16287421 16287421 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136213.1 -1 provisional p.G155 0.004 166 0% 149 24.2% 2 50% - - - superfamily_ANK POTEH 23784 genome.wustl.edu 37 22 16287695 16287695 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136213.1 -1 provisional p.W64* 0.000 74 0% 78 29.5% 1 0% - - - NULL CCT8L2 150160 genome.wustl.edu 37 22 17072916 17072916 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014406.4 -1 validated p.S175 0.000 27 0% 47 40.4% 0 - - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like CCT8L2 150160 genome.wustl.edu 37 22 17073402 17073402 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014406.4 -1 validated p.Q13 0.147 11 0% 16 37.5% 0 - - - - NULL IL17RA 23765 genome.wustl.edu 37 22 17589746 17589746 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014339.4 +1 reviewed p.R546H 0.979 4 0.000 9 0.667 12 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL LOC100288065 100288065 genome.wustl.edu 37 22 18066150 18066150 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002344192.1 -1 model p.R148H 0.000 30 0% 22 36.4% 0 - - - - NULL ATP6V1E1 529 genome.wustl.edu 37 22 18081038 18081038 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001696.3 -1 reviewed p.A151V 1.000 125 0% 80 57.5% 110 41.8% benign(0.052) tolerated(0.12) neutral(0.264) HMMPfam_vATP-synt_E MICAL3 57553 genome.wustl.edu 37 22 18273993 18273993 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015241.2 -1 provisional p.R1909C 1.000 24 0% 30 40% 24 58.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENSG00000093100 0 genome.wustl.edu 37 22 18300402 18300402 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000252134 -1 known p.R657H 0.002 28 0% 28 35.7% 9 33.3% - - - NULL ENSG00000093100 0 genome.wustl.edu 37 22 18300971 18300971 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000252134 -1 known p.W467* 0.000 14 0% 11 54.5% 2 0% benign(0) tolerated(1) - NULL MICAL3 57553 genome.wustl.edu 37 22 18369955 18369955 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015241.2 -1 provisional p.K683T 1.000 431 0.2% 259 47.1% 5 20% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL ENSG00000093100 0 genome.wustl.edu 37 22 18382204 18382204 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000432220 -1 known p.G320R 0.003 273 0% 153 45.1% 1 100% - - - NULL TUBA8 51807 genome.wustl.edu 37 22 18604249 18604249 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018943.1 +1 provisional p.E3* 1.000 18 0% 15 46.7% 4 75% - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like USP18 11274 genome.wustl.edu 37 22 18644563 18644563 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017414.3 +1 validated p.T87 0.532 30 0% 17 47.1% 8 25% - - - HMMPfam_UCH,superfamily_Cysteine proteinases PRODH 5625 genome.wustl.edu 37 22 18900848 18900848 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016335.3 -1 reviewed p.Y548C 0.999 9 0.000 14 0.500 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pro_dh,superfamily_FAD-linked oxidoreductase PRODH 5625 genome.wustl.edu 37 22 18912570 18912570 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016335.3 -1 reviewed p.A221T 1.000 22 0% 36 27.8% 1 0% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) superfamily_FAD-linked oxidoreductase PRODH 5625 genome.wustl.edu 37 22 18918569 18918569 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016335.3 -1 reviewed p.S139N 1.000 29 0% 30 16.7% 0 - benign(0.002) tolerated(0.44) neutral(0.013) superfamily_FAD-linked oxidoreductase DGCR14 8220 genome.wustl.edu 37 22 19122634 19122634 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022719.2 -1 reviewed p.A364T 0.999 27 0% 18 27.8% 27 40.7% benign(0.02) deleterious(0.02) neutral(0.384) HMMPfam_Es2 CLTCL1 8218 genome.wustl.edu 37 22 19220116 19220116 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007098.3 -1 reviewed p.G509 0.982 39 0% 22 36.4% 1 0% - - - superfamily_ARM repeat CLTCL1 8218 genome.wustl.edu 37 22 19226858 19226858 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007098.3 -1 reviewed p.K245N 1.000 194 0% 116 37.9% 1 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) superfamily_Clathrin heavy-chain terminal domain CLTCL1 8218 genome.wustl.edu 37 22 19230386 19230386 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007098.3 -1 reviewed p.A198V 1.000 72 0% 68 48.5% 2 0% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_Clathrin_propel,superfamily_Clathrin heavy-chain terminal domain UFD1L 7353 genome.wustl.edu 37 22 19438243 19438243 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005659.6 -1 reviewed p.A292T 1.000 207 0% 124 13.7% 62 19.3% benign(0.208) tolerated(0.27) neutral(0.054) NULL SEPT5 5413 genome.wustl.edu 37 22 19707850 19707850 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002688.4 +1 reviewed p.P124S 1.000 71 0% 61 14.8% 41 26.8% benign(0.024) deleterious(0.03) neutral(0.365) HMMPfam_Septin,superfamily_SSF52540 DGCR8 54487 genome.wustl.edu 37 22 20074159 20074159 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022720.5 +1 validated p.V225I 1.000 60 0% 41 39% 13 38.4% benign(0) tolerated(0.09) neutral(0.296) NULL DGCR8 54487 genome.wustl.edu 37 22 20080388 20080388 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022720.5 +1 validated p.S555P 1.000 139 0% 105 45.7% 8 62.5% benign(0.256) deleterious(0.01) neutral(0.432) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like ZDHHC8 29801 genome.wustl.edu 37 22 20129007 20129007 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013373.3 +1 reviewed p.A360D 0.176 13 0% 20 40% 50 42% possibly_damaging(0.595) deleterious(0) deleterious(0.650) NULL RIMBP3 85376 genome.wustl.edu 37 22 20456883 20456883 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015672.1 -1 validated p.K1473N 0.509 61 0% 91 28.6% 0 - benign(0.001) deleterious(0.04) neutral(0.349) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 RIMBP3 85376 genome.wustl.edu 37 22 20457633 20457633 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015672.1 -1 validated p.P1223 0.039 100 0% 132 15.2% 0 - - - - NULL RIMBP3 85376 genome.wustl.edu 37 22 20457734 20457734 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015672.1 -1 validated p.R1190* 0.000 182 0% 181 17.7% 0 - - - - NULL RIMBP3 85376 genome.wustl.edu 37 22 20457852 20457852 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015672.1 -1 validated p.F1150L 0.078 182 0% 222 12.6% 1 0% benign(0) tolerated(1) - superfamily_Fibronectin type III ZNF74 7625 genome.wustl.edu 37 22 20760278 20760278 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003426.2 +1 validated p.L319I 0.765 4 0.000 9 0.556 28 57.1% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KLHL22 84861 genome.wustl.edu 37 22 20796445 20796445 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032775.2 -1 validated p.D607G 0.340 11 0% 15 33.3% 40 45% possibly_damaging(0.711) tolerated(0.5) neutral(0.267) NULL MED15 51586 genome.wustl.edu 37 22 20937677 20937677 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003891.1 +1 reviewed p.K578T 0.988 43 0% 39 38.5% 67 47.7% benign(0.04) tolerated(0.06) neutral(0.325) NULL TMEM191A 84222 genome.wustl.edu 37 22 21055416 21055416 + RNA SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_026815.1 +1 predicted NULL 0.136 204 0% 154 41.6% 0 - - - - - PI4KA 5297 genome.wustl.edu 37 22 21064217 21064217 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_058004.2 -1 reviewed p.G1993D 1.000 42 0% 44 43.2% 79 36.7% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) SNAP29 9342 genome.wustl.edu 37 22 21242113 21242113 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004782.3 +1 reviewed p.R256* 0.995 173 0% 83 47% 18 44.4% - - - HMMPfam_SNARE,HMMSmart_t_SNARE LZTR1 8216 genome.wustl.edu 37 22 21350282 21350282 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006767.3 +1 reviewed p.M700I 1.000 12 0% 17 41.2% 15 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB FLJ39582 353117 genome.wustl.edu 37 22 21363805 21363805 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_027051.1 +1 validated NULL 0.000 23 0% 21 28.6% 0 - - - - - HIC2 23119 genome.wustl.edu 37 22 21799248 21799248 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015094.2 +1 validated p.D22N 1.000 17 0% 23 26.1% 0 - possibly_damaging(0.798) deleterious(0) deleterious(0.745) superfamily_POZ domain PPIL2 23759 genome.wustl.edu 37 22 22040799 22040799 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_148176.2 +1 reviewed p.A248T 1.000 28 0% 18 27.8% 46 34.7% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL IGLV4-60 28785 genome.wustl.edu 37 22 22516874 22516874 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390284 +1 known p.I54 0.000 59 0% 49 51% 2 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV1-51 28820 genome.wustl.edu 37 22 22677218 22677218 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390290 +1 known p.F82L 1.000 64 0% 41 48.8% 15 0% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV1-40 28825 genome.wustl.edu 37 22 22764336 22764336 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390299 +1 known p.P26 0.001 33 0% 36 30.6% 315 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV1-36 28826 genome.wustl.edu 37 22 22786696 22786696 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000390301 +1 known p.F82L 1.000 52 0% 42 45.2% 2 0% benign(0.216) deleterious(0.02) neutral(0.404) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin ZNF280A 129025 genome.wustl.edu 37 22 22868375 22868375 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080740.3 -1 reviewed p.A527D 0.000 165 0% 98 34.7% 0 - benign(0.014) deleterious(0) neutral(0.445) NULL ZNF280A 129025 genome.wustl.edu 37 22 22869426 22869426 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080740.3 -1 reviewed p.D177Y 0.003 99 0% 56 48.2% 0 - benign(0.326) deleterious(0.03) neutral(0.466) NULL ZNF280A 129025 genome.wustl.edu 37 22 22869805 22869805 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080740.3 -1 reviewed p.G50 0.001 298 0% 177 46.3% 0 - - - - NULL BCR 613 genome.wustl.edu 37 22 23630291 23630291 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004327.3 +1 reviewed p.T845M 0.989 128 0% 87 46% 74 51.3% benign(0.321) deleterious(0.02) deleterious(0.484) HMMSmart_SM00233,superfamily_PH domain-like ZNF70 7621 genome.wustl.edu 37 22 24086261 24086261 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021916.2 -1 provisional p.R356H 1.000 53 0% 46 21.7% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF70 7621 genome.wustl.edu 37 22 24087156 24087156 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021916.2 -1 provisional p.E58K 0.000 81 0% 69 43.5% 4 75% benign(0.028) deleterious(0.01) neutral(0.407) NULL MMP11 4320 genome.wustl.edu 37 22 24122685 24122685 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005940.3 +1 reviewed p.A160T 1.000 12 0% 20 30% 213 3.7% benign(0) tolerated(0.26) neutral(0.034) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" SMARCB1 6598 genome.wustl.edu 37 22 24135837 24135837 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003073.3 +1 reviewed p.K108 1.000 83 0% 55 38.2% 145 47.5% - - - NULL CABIN1 23523 genome.wustl.edu 37 22 24564467 24564467 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012295.2 +1 reviewed p.L1912R 0.997 21 0% 16 56.2% 78 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SUSD2 56241 genome.wustl.edu 37 22 24579533 24579533 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019601.3 +1 validated p.L120I 0.998 29 0% 28 60.7% 3 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SUSD2 56241 genome.wustl.edu 37 22 24580200 24580200 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019601.3 +1 validated p.S179I 0.044 39 0% 31 16.1% 5 20% possibly_damaging(0.685) tolerated(0.07) deleterious(0.564) NULL GGT5 2687 genome.wustl.edu 37 22 24621268 24621268 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000425408 -1 known p.R86* 0.298 30 0% 22 45.5% 8 12.5% benign(0.062) tolerated(0.22) neutral(0.046) HMMPfam_G_glu_transpept SPECC1L 23384 genome.wustl.edu 37 22 24718656 24718656 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145468.1 +1 validated p.A570T 1.000 77 0% 43 37.2% 4 25% benign(0.073) tolerated(0.23) neutral(0.046) NULL SPECC1L 23384 genome.wustl.edu 37 22 24718657 24718657 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145468.1 +1 validated p.A570V 1.000 75 0% 43 48.8% 4 50% benign(0.184) tolerated(0.08) neutral(0.317) NULL C22orf13 83606 genome.wustl.edu 37 22 24943923 24943923 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031444.2 -1 validated p.R83C 1.000 21 0% 20 35% 60 38.3% benign(0.04) tolerated(0.08) neutral(0.302) HMMPfam_Guanylate_cyc_2 PIWIL3 440822 genome.wustl.edu 37 22 25119195 25119195 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008496.2 -1 validated p.K762N 1.000 419 0% 213 39.9% 0 - possibly_damaging(0.929) tolerated(0.06) deleterious(0.699) HMMPfam_Piwi,superfamily_RNaseH_fold TMEM211 255349 genome.wustl.edu 37 22 25334189 25334189 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001663.1 -1 provisional p.S18 0.990 50 0% 37 43.2% 3 0% - - - NULL CRYBB2 1415 genome.wustl.edu 37 22 25625492 25625492 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000496.2 +1 reviewed p.F132 1.000 99 0% 74 36.5% 18 5.5% - - - HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF ADRBK2 157 genome.wustl.edu 37 22 26040576 26040576 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005160.3 +1 reviewed p.D70Y 1.000 391 0% 181 43.1% 1 0% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam ADRBK2 157 genome.wustl.edu 37 22 26107120 26107120 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005160.3 +1 reviewed p.K494R 1.000 259 0% 147 36.7% 10 40% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMSmart_S_TK_X,superfamily_Kinase_like MYO18B 84700 genome.wustl.edu 37 22 26166887 26166887 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032608.5 +1 reviewed p.R543M 1.000 54 0% 55 49.1% 0 - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) superfamily_P-loop containing nucleoside triphosphate hydrolases MYO18B 84700 genome.wustl.edu 37 22 26317335 26317335 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032608.5 +1 reviewed p.T1826P 0.931 41 0% 20 40% 0 - benign(0.009) tolerated(0.06) neutral(0.323) NULL HPS4 89781 genome.wustl.edu 37 22 26860011 26860011 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022081.4 -1 reviewed p.L529 0.000 22 0% 14 35.7% 17 41.1% - - - NULL TTC28 23331 genome.wustl.edu 37 22 28378748 28378748 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145418.1 -1 validated p.P2303S 1.000 63 0% 63 36.5% 15 53.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TTC28 23331 genome.wustl.edu 37 22 28378833 28378833 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145418.1 -1 validated p.C2274 0.001 35 0% 38 34.2% 16 62.5% - - - NULL TTC28 23331 genome.wustl.edu 37 22 28379699 28379699 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145418.1 -1 validated p.A1986T 0.999 33 0% 23 30.4% 14 64.2% probably_damaging(0.99) tolerated(0.12) deleterious(0.702) NULL CHEK2 11200 genome.wustl.edu 37 22 29130405 29130405 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005735.1 -1 reviewed p.G102V 1.000 74 0% 55 43.6% 17 35.2% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_SMAD/FHA domain HSCB 150274 genome.wustl.edu 37 22 29140689 29140689 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172002.3 +1 validated p.Y140 1.000 107 0% 52 11.5% 11 9% - - - HMMPfam_DnaJ,superfamily_DnaJ_N EWSR1 2130 genome.wustl.edu 37 22 29684600 29684600 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005243.3 +1 reviewed p.F267I 1.000 64 0% 51 47.1% 148 37.1% possibly_damaging(0.847) deleterious(0.01) deleterious(0.731) NULL AP1B1 162 genome.wustl.edu 37 22 29747772 29747772 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127.3 -1 reviewed p.K327N 1.000 86 0% 76 51.3% 88 52.2% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) HMMPfam_Adaptin_N,superfamily_ARM repeat RFPL1-AS1 10740 genome.wustl.edu 37 22 29837313 29837313 + RNA SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NR_002727.2 -1 validated NULL 0.011 17 0% 13 61.5% 0 - - - - - THOC5 8563 genome.wustl.edu 37 22 29932651 29932651 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002877.1 -1 validated p.L226M 1.000 152 0% 113 34.5% 22 36.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_FimP THOC5 8563 genome.wustl.edu 37 22 29945112 29945112 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002877.1 -1 validated p.R9W 1.000 227 0.4% 173 42.8% 13 76.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ASCC2 84164 genome.wustl.edu 37 22 30221667 30221667 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032204.3 -1 provisional p.V62I 1.000 52 0% 63 42.9% 23 34.7% benign(0.005) tolerated(0.69) neutral(0.002) NULL TBC1D10A 83874 genome.wustl.edu 37 22 30690021 30690021 + Missense_Mutation SNP G G A rs5763933 byFrequency TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031937.1 -1 provisional p.R262C 1.000 47 0% 38 39.5% 34 52.9% possibly_damaging(0.847) deleterious(0) deleterious(0.770) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p PES1 23481 genome.wustl.edu 37 22 30976628 30976628 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014303.2 -1 reviewed p.K325Q 1.000 19 0% 25 44% 68 51.4% unknown(0) tolerated(0.13) - HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain PATZ1 23598 genome.wustl.edu 37 22 31740356 31740356 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014323.2 -1 reviewed p.K411 1.000 24 0% 17 23.5% 42 16.6% - - - superfamily_C2H2 and C2HC zinc fingers EIF4ENIF1 56478 genome.wustl.edu 37 22 31838056 31838056 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019843.3 -1 reviewed p.S752F 1.000 201 0% 129 45.7% 25 56% benign(0) tolerated(0.06) neutral(0.323) NULL SFI1 9814 genome.wustl.edu 37 22 32002314 32002314 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007467.1 +1 validated p.R685 0.128 72 0% 70 42.9% 16 37.5% - - - NULL PRR14L 253143 genome.wustl.edu 37 22 32109445 32109445 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173566.2 -1 validated p.Q1460H 0.000 200 0% 108 55.6% 12 41.6% probably_damaging(0.995) tolerated(0.16) deleterious(0.517) NULL PRR14L 253143 genome.wustl.edu 37 22 32111236 32111236 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173566.2 -1 validated p.T863 0.001 346 0% 164 45.7% 6 50% - - - NULL DEPDC5 9681 genome.wustl.edu 37 22 32188768 32188768 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014662.2 +1 validated p.Q244H 1.000 420 0% 168 42.3% 3 0% benign(0.382) tolerated(0.37) neutral(0.141) NULL DEPDC5 9681 genome.wustl.edu 37 22 32302045 32302045 + Missense_Mutation SNP C C T rs146449468 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000382111 +1 known p.T1484M 0.971 153 0% 98 42.9% 10 30% probably_damaging(0.994) tolerated(0.32) deleterious(0.476) NULL YWHAH 7533 genome.wustl.edu 37 22 32352163 32352163 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003405.3 +1 reviewed p.R42Q 1.000 138 0% 85 38.8% 88 29.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_14-3-3,HMMSmart_SM00101,PatternScan_1433_1,superfamily_14-3-3 protein SLC5A1 6523 genome.wustl.edu 37 22 32480542 32480542 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000343.3 +1 reviewed p.D261N 1.000 96 0% 51 27.5% 13 53.8% possibly_damaging(0.735) tolerated(0.08) deleterious(0.569) HMMPfam_SSF BPIFC 254240 genome.wustl.edu 37 22 32831699 32831699 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174932.2 -1 validated p.T306A 0.763 68 0% 40 32.5% 0 - benign(0.066) tolerated(0.43) neutral(0.018) HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFC 254240 genome.wustl.edu 37 22 32841845 32841845 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174932.2 -1 validated p.S171 0.918 88 0% 40 42.5% 0 - - - - HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom HMOX1 3162 genome.wustl.edu 37 22 35782827 35782827 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002133.1 +1 reviewed p.G98 0.977 12 0% 18 27.8% 18 11.1% - - - HMMPfam_Heme_oxygenase,superfamily_Heme oxygenase-like MCM5 4174 genome.wustl.edu 37 22 35813849 35813849 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006739.3 +1 reviewed p.V568E 0.894 17 0% 20 45% 92 51% benign(0) tolerated(0.36) neutral(0.020) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases APOL6 80830 genome.wustl.edu 37 22 36055102 36055102 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030641.3 +1 reviewed p.V164A 0.000 40 0% 45 17.8% 2 0% benign(0.271) tolerated(0.1) neutral(0.316) HMMPfam_ApoL APOL5 80831 genome.wustl.edu 37 22 36116648 36116648 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030642.1 +1 reviewed p.R30Q 0.000 97 0% 54 42.6% 0 - unknown(0) - - NULL RBFOX2 23543 genome.wustl.edu 37 22 36141995 36141995 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001082578.1 -1 reviewed p.A429V 1.000 65 0% 31 48.4% 26 34.6% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL APOL4 80832 genome.wustl.edu 37 22 36587876 36587876 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000352371 -1 known p.E101* 0.000 190 0% 83 28.9% 9 0% - - - HMMPfam_ApoL MYH9 4627 genome.wustl.edu 37 22 36700105 36700105 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002473.4 -1 reviewed p.D776Y 1.000 14 0% 10 80% 331 34.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases EIF3D 8664 genome.wustl.edu 37 22 36916626 36916626 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003753.3 -1 reviewed p.D192G 1.000 165 0% 76 42.1% 205 49.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_eIF-3_zeta CACNG2 10369 genome.wustl.edu 37 22 36960869 36960869 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006078.2 -1 reviewed p.S167 1.000 40 0% 31 38.7% 0 - - - - HMMPfam_PMP22_Claudin NCF4 4689 genome.wustl.edu 37 22 37260147 37260147 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013416.3 +1 validated p.E31D 1.000 62 0% 25 56% 2 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_PX,HMMSmart_PX,superfamily_PX CSF2RB 1439 genome.wustl.edu 37 22 37328935 37328935 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000395.2 +1 reviewed p.A381T 0.002 39 0% 34 44.1% 1 0% benign(0) tolerated(0.6) neutral(0.004) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CSF2RB 1439 genome.wustl.edu 37 22 37334458 37334458 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000395.2 +1 reviewed p.V870I 0.925 23 0% 25 32% 0 - possibly_damaging(0.496) deleterious(0.03) deleterious(0.530) NULL KCTD17 79734 genome.wustl.edu 37 22 37455388 37455388 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000456470 +1 known p.A136V 0.132 12 0% 11 63.6% 12 50% - - - NULL IL2RB 3560 genome.wustl.edu 37 22 37528463 37528463 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000878.2 -1 reviewed p.F288L 1.000 115 0% 90 36.7% 7 0% possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL C1QTNF6 114904 genome.wustl.edu 37 22 37578284 37578284 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031910.3 -1 validated p.D261N 0.998 15 0% 21 52.4% 12 33.3% benign(0.005) deleterious(0.04) neutral(0.349) HMMPfam_C1q,superfamily_TNF_like C1QTNF6 114904 genome.wustl.edu 37 22 37581463 37581463 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031910.3 -1 validated p.V28 0.397 6 0.000 10 0.500 3 33.3% - - - NULL CYTH4 27128 genome.wustl.edu 37 22 37695291 37695291 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013385.3 +1 reviewed p.L126 0.976 17 0% 19 21.1% 1 0% - - - HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7 ELFN2 114794 genome.wustl.edu 37 22 37769254 37769254 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052906.3 -1 validated p.R774Q 1.000 29 0% 36 50% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ELFN2 114794 genome.wustl.edu 37 22 37770667 37770667 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052906.3 -1 validated p.H303R 0.336 73 0% 59 13.6% 0 - possibly_damaging(0.533) deleterious(0) deleterious(0.625) HMMSmart_FN3 ELFN2 114794 genome.wustl.edu 37 22 37771328 37771328 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052906.3 -1 validated p.D83N 1.000 75 0% 83 38.6% 0 - probably_damaging(0.985) tolerated(0.34) neutral(0.455) superfamily_SSF52058 CARD10 29775 genome.wustl.edu 37 22 37893139 37893139 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014550.3 -1 reviewed p.E612* 0.416 35 0% 29 34.5% 3 33.3% - - - NULL TRIOBP 11078 genome.wustl.edu 37 22 38134686 38134686 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039141.2 +1 reviewed p.R1715I 1.000 78 0% 53 35.8% 2 100% possibly_damaging(0.924) deleterious(0) deleterious(0.818) NULL SOX10 6663 genome.wustl.edu 37 22 38369605 38369605 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006941.3 -1 reviewed p.R433Q 1.000 15 0% 23 21.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SOX10 6663 genome.wustl.edu 37 22 38373929 38373929 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000446929 -1 known p.T91I 1.000 8 0.000 14 0.500 0 - - - - NULL PICK1 9463 genome.wustl.edu 37 22 38470897 38470897 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039583.1 +1 reviewed p.R336C 1.000 13 0% 13 38.5% 68 50% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Arfaptin PLA2G6 8398 genome.wustl.edu 37 22 38524421 38524421 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000452794 -1 known p.R58Q 0.960 52 0% 70 37.1% 10 20% - - - superfamily_Ankyrin repeat KCNJ4 3761 genome.wustl.edu 37 22 38822881 38822881 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004981.1 -1 reviewed p.F419 0.836 11 0.000 8 0.625 0 - - - - NULL GTPBP1 9567 genome.wustl.edu 37 22 39117814 39117814 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004286.4 +1 reviewed p.V301A 1.000 68 0% 49 46.9% 50 46% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_GTP_EFTU,superfamily_SSF52540 SUN2 25777 genome.wustl.edu 37 22 39132304 39132304 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015374.1 -1 validated p.R708C 1.000 20 0% 30 46.7% 55 43.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sad1_UNC SUN2 25777 genome.wustl.edu 37 22 39134986 39134986 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015374.1 -1 validated p.S557 0.953 35 0% 35 14.3% 100 9% - - - NULL CBX6 23466 genome.wustl.edu 37 22 39262766 39262766 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014292.3 -1 validated p.F229 0.536 7 0.000 6 0.667 4 0% - - - NULL APOBEC3F 200316 genome.wustl.edu 37 22 39438998 39438998 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006666.1 +1 reviewed p.P25L 0.000 255 0% 183 41.5% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_APOBEC_N TAB1 10454 genome.wustl.edu 37 22 39817886 39817886 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006116.2 +1 reviewed p.P277 0.500 56 0% 54 22.2% 19 15.7% - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C ATF4 468 genome.wustl.edu 37 22 39918463 39918463 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001675.2 +1 reviewed p.E304D 0.026 161 0% 104 37.5% 519 48.9% possibly_damaging(0.618) tolerated(0.32) neutral(0.239) HMMSmart_SM00338,HMMPfam_bZIP_1 ENTHD1 150350 genome.wustl.edu 37 22 40283462 40283462 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152512.3 -1 provisional p.F97L 1.000 275 0% 160 44.4% 0 - benign(0.141) tolerated(0.31) neutral(0.039) HMMPfam_ENTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273 TNRC6B 23112 genome.wustl.edu 37 22 40658039 40658039 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015088.2 +1 validated p.R107C 1.000 4 0.000 12 0.333 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TNRC6B 23112 genome.wustl.edu 37 22 40697211 40697211 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015088.2 +1 validated p.G1222C 0.526 26 0% 41 41.5% 9 44.4% benign(0.11) tolerated(0.1) neutral(0.295) NULL TNRC6B 23112 genome.wustl.edu 37 22 40704594 40704594 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015088.2 +1 validated p.T1290I 1.000 115 0% 107 44.9% 5 60% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL XPNPEP3 63929 genome.wustl.edu 37 22 41322439 41322439 + Nonstop_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022098.2 +1 validated p.*508W 1.000 82 0% 37 43.2% 3 66.6% - - - NULL EP300 2033 genome.wustl.edu 37 22 41536179 41536179 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001429.3 +1 reviewed p.A599D 1.000 202 0% 131 31.3% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KIX,superfamily_KIX EP300 2033 genome.wustl.edu 37 22 41546174 41546174 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001429.3 +1 reviewed p.P930L 0.614 28 0% 32 53.1% 32 62.5% unknown(0) tolerated(0.08) - NULL EP300 2033 genome.wustl.edu 37 22 41553213 41553213 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001429.3 +1 reviewed p.T1101I 1.000 197 0% 118 46.6% 12 58.3% unknown(0) deleterious(0) - HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 EP300 2033 genome.wustl.edu 37 22 41562638 41562638 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001429.3 +1 reviewed p.R1281Q 1.000 437 0% 194 43.8% 10 30% unknown(0) tolerated(0.67) - HMMPfam_DUF906 EP300 2033 genome.wustl.edu 37 22 41572357 41572357 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001429.3 +1 reviewed p.A1629V 1.000 25 0% 21 47.6% 59 50.8% unknown(0) deleterious(0) - NULL L3MBTL2 83746 genome.wustl.edu 37 22 41621938 41621938 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031488.4 +1 validated p.P499 0.001 27 0% 31 48.4% 18 77.7% - - - HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT ZC3H7B 23264 genome.wustl.edu 37 22 41734240 41734240 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000396532 +1 known p.T112M 0.000 16 0% 19 26.3% 0 - - - - NULL TOB2 10766 genome.wustl.edu 37 22 41832514 41832514 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016272.3 -1 validated p.G279V 0.018 22 0% 22 50% 43 34.8% benign(0.084) tolerated(0.48) neutral(0.017) NULL TOB2 10766 genome.wustl.edu 37 22 41832829 41832829 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016272.3 -1 validated p.I174T 1.000 28 0% 30 50% 43 69.7% possibly_damaging(0.575) deleterious(0) deleterious(0.641) NULL MEI1 150365 genome.wustl.edu 37 22 42191740 42191740 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152513.3 +1 validated p.L1223H 0.997 28 0% 37 43.2% 1 0% possibly_damaging(0.753) deleterious(0.01) deleterious(0.682) NULL CCDC134 79879 genome.wustl.edu 37 22 42209814 42209814 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024821.2 +1 validated p.I184 0.319 43 0% 33 33.3% 3 66.6% - - - NULL SREBF2 6721 genome.wustl.edu 37 22 42263058 42263058 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004599.2 +1 reviewed p.A104 0.000 56 0% 69 43.5% 74 44.5% - - - NULL SREBF2 6721 genome.wustl.edu 37 22 42264700 42264700 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004599.2 +1 reviewed p.A208 1.000 65 0% 35 60% 65 52.3% - - - NULL SREBF2 6721 genome.wustl.edu 37 22 42271431 42271431 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004599.2 +1 reviewed p.L394 1.000 67 0% 41 24.4% 42 4.7% - - - superfamily_HLH_basic WBP2NL 164684 genome.wustl.edu 37 22 42423111 42423111 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152613.2 +1 validated p.E286K 0.000 46 0% 40 52.5% 0 - benign(0.224) tolerated(0.18) neutral(0.078) NULL TCF20 6942 genome.wustl.edu 37 22 42565883 42565883 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005650.1 -1 reviewed p.E1923D 1.000 90 0% 52 32.7% 43 39.5% benign(0.108) tolerated(0.25) neutral(0.045) HMMSmart_SM00249 TCF20 6942 genome.wustl.edu 37 22 42606208 42606208 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005650.1 -1 reviewed p.H1702Y 1.000 37 0% 41 14.6% 25 4% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL TCF20 6942 genome.wustl.edu 37 22 42610617 42610617 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005650.1 -1 reviewed p.G232D 1.000 45 0% 34 52.9% 10 40% possibly_damaging(0.638) tolerated(0.1) deleterious(0.510) NULL RRP7A 27341 genome.wustl.edu 37 22 42914089 42914089 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015703.4 -1 validated p.G46 0.099 97 0% 56 33.9% 22 4.5% - - - superfamily_SSF54928 ARFGAP3 26286 genome.wustl.edu 37 22 43231439 43231439 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014570.4 -1 reviewed p.R108C 0.997 196 0.5% 102 15.7% 110 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP PACSIN2 11252 genome.wustl.edu 37 22 43289513 43289513 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007229.3 -1 reviewed p.A56V 0.998 16 0% 15 33.3% 52 55.7% possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMPfam_FCH,HMMSmart_SM00055 SCUBE1 80274 genome.wustl.edu 37 22 43658775 43658775 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000449304 -1 known p.R11* 0.996 55 0% 54 50% 0 - - - - PatternScan_EGF_2,superfamily_EGF/Laminin EFCAB6 64800 genome.wustl.edu 37 22 44074010 44074010 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022785.2 -1 validated p.R429* 0.019 271 0% 104 39.4% 0 - - - - superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 44151672 44151672 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022785.2 -1 validated p.E161* 0.937 371 0% 169 44.4% 1 0% - - - superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 44178124 44178124 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022785.2 -1 validated p.P25 0.173 418 0.2% 196 48% 0 - - - - NULL PNPLA5 150379 genome.wustl.edu 37 22 44280118 44280118 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138814.3 -1 reviewed p.E353K 0.389 9 0.111 8 0.625 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL PNPLA5 150379 genome.wustl.edu 37 22 44285209 44285209 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138814.3 -1 reviewed p.E234D 1.000 29 0% 25 44% 0 - possibly_damaging(0.655) tolerated(0.24) neutral(0.268) NULL PNPLA3 80339 genome.wustl.edu 37 22 44328871 44328871 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025225.2 +1 reviewed p.T200 0.103 126 0% 77 37.7% 3 66.6% - - - NULL PARVB 29780 genome.wustl.edu 37 22 44395478 44395478 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003828.1 +1 validated p.A46T 0.000 68 0% 57 40.4% 0 - benign(0) deleterious(0) neutral(0.445) NULL LDOC1L 84247 genome.wustl.edu 37 22 44892881 44892881 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032287.2 -1 validated p.R186C 0.977 14 0% 13 53.8% 14 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LDOC1L 84247 genome.wustl.edu 37 22 44892950 44892950 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032287.2 -1 validated p.R163C 0.999 30 0% 25 28% 15 26.6% probably_damaging(0.999) tolerated(0.22) deleterious(0.532) NULL NUP50 10762 genome.wustl.edu 37 22 45574597 45574597 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007172.3 +1 reviewed p.F273 0.721 226 0.4% 128 35.9% 13 23% - - - HMMPfam_NUP50 UPK3A 7380 genome.wustl.edu 37 22 45691509 45691509 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006953.3 +1 reviewed p.S258L 0.997 28 0% 20 50% 0 - possibly_damaging(0.915) deleterious(0.02) deleterious(0.750) NULL FBLN1 2192 genome.wustl.edu 37 22 45939326 45939326 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006486.2 +1 reviewed p.K414R 1.000 28 0% 23 26.1% 716 26.6% probably_damaging(0.999) tolerated(0.24) deleterious(0.528) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin CELSR1 9620 genome.wustl.edu 37 22 46787163 46787163 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014246.1 -1 reviewed p.K2057T 0.997 20 0% 21 38.1% 15 33.3% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_HRM,HMMSmart_SM00008,superfamily_Concanavalin A-like lectins/glucanases CELSR1 9620 genome.wustl.edu 37 22 46860070 46860070 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014246.1 -1 reviewed p.K1239N 0.920 11 0% 13 76.9% 14 50% possibly_damaging(0.912) tolerated(0.2) neutral(0.412) NULL CELSR1 9620 genome.wustl.edu 37 22 46930827 46930827 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000454637 -1 known p.R122H 0.237 14 0.000 8 0.500 16 31.2% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like GRAMD4 23151 genome.wustl.edu 37 22 47069703 47069703 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015124.2 +1 validated p.P459L 0.988 12 0% 21 47.6% 18 33.3% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_GRAM,HMMSmart_SM00568 CERK 64781 genome.wustl.edu 37 22 47086068 47086068 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022766.5 -1 validated p.R454 0.222 54 0% 39 43.6% 36 41.6% - - - NULL ZBED4 9889 genome.wustl.edu 37 22 50277355 50277355 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014838.2 +1 validated p.F15 0.003 57 0% 30 40% 3 33.3% - - - NULL ZBED4 9889 genome.wustl.edu 37 22 50278882 50278882 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014838.2 +1 validated p.P524 0.012 52 0% 33 51.5% 3 33.3% - - - NULL TTLL8 164714 genome.wustl.edu 37 22 50470329 50470329 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080447.1 -1 provisional p.V498A 1.000 17 0% 25 68% 0 - possibly_damaging(0.61) deleterious(0.01) deleterious(0.617) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like MLC1 23209 genome.wustl.edu 37 22 50523199 50523199 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015166.3 -1 reviewed p.P45S 0.267 19 0% 20 40% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL MOV10L1 54456 genome.wustl.edu 37 22 50537959 50537959 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018995.2 +1 reviewed p.V124M 0.996 110 0% 62 38.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MOV10L1 54456 genome.wustl.edu 37 22 50559041 50559041 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018995.2 +1 reviewed p.A522V 1.000 215 0% 116 32.8% 0 - probably_damaging(0.991) tolerated(0.09) deleterious(0.740) NULL MOV10L1 54456 genome.wustl.edu 37 22 50573014 50573014 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018995.2 +1 reviewed p.N675 0.003 307 0% 145 43.4% 0 - - - - NULL MOV10L1 54456 genome.wustl.edu 37 22 50589275 50589275 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018995.2 +1 reviewed p.Y947H 0.987 44 0% 39 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases MOV10L1 54456 genome.wustl.edu 37 22 50598172 50598172 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018995.2 +1 reviewed p.E1094D 1.000 273 0% 166 44% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases TRABD 80305 genome.wustl.edu 37 22 50636554 50636554 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_025204.2 +1 provisional p.G299S 1.000 9 0.000 17 0.647 119 42% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TraB TUBGCP6 85378 genome.wustl.edu 37 22 50662832 50662832 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020461.3 -1 reviewed p.R695W 0.004 66 0% 67 38.8% 18 55.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Spc97_Spc98 TUBGCP6 85378 genome.wustl.edu 37 22 50664523 50664523 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020461.3 -1 reviewed p.V597I 0.818 80 0% 72 47.2% 10 80% benign(0.025) tolerated(0.38) neutral(0.019) HMMPfam_Spc97_Spc98 HDAC10 83933 genome.wustl.edu 37 22 50685154 50685154 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032019.5 -1 validated p.V509M 0.370 13 0% 10 60% 49 38.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Arginase/deacetylase PLXNB2 23654 genome.wustl.edu 37 22 50721607 50721607 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012401.2 -1 validated p.K896N 0.115 3 0.000 10 0.800 128 45.3% benign(0.002) tolerated(0.2) neutral(0.049) HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set SBF1 6305 genome.wustl.edu 37 22 50893473 50893473 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000418590 -1 known p.R85* 0.986 21 0% 30 26.7% 78 15.3% - - - superfamily_(Phosphotyrosine protein) phosphatases II SBF1 6305 genome.wustl.edu 37 22 50894666 50894666 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002972.2 -1 validated p.E1389D 1.000 11 0.000 9 0.444 50 42% probably_damaging(0.994) tolerated(0.1) deleterious(0.738) superfamily_(Phosphotyrosine protein) phosphatases II SBF1 6305 genome.wustl.edu 37 22 50899650 50899650 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002972.2 -1 validated p.V969I 0.981 19 0% 14 35.7% 27 44.4% benign(0.051) tolerated(0.25) neutral(0.040) superfamily_PH domain-like CPT1B 1375 genome.wustl.edu 37 22 51008731 51008731 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145135.1 -1 reviewed p.G711 1.000 25 0% 15 53.3% 57 59.6% - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CHKB 1120 genome.wustl.edu 37 22 51018634 51018634 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005198.4 -1 reviewed p.S268I 1.000 81 0% 67 53.7% 34 41.1% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like) PLCXD1 55344 genome.wustl.edu 37 X 205491 205491 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018390.3 +1 reviewed p.L73 0.015 59 0% 42 16.7% 13 7.6% - - - superfamily_PLC-like_Pdiesterase_TIM-brl SHOX 6473 genome.wustl.edu 37 X 595553 595553 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000451.3 +1 reviewed p.R160C 1.000 6 0.000 19 0.474 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 CSF2RA 1438 genome.wustl.edu 37 X 1428415 1428415 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_172246.2 +1 reviewed p.A356V 0.000 172 0% 130 53.1% 1 0% unknown(0) - - NULL IL3RA 3563 genome.wustl.edu 37 X 1464268 1464268 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002183.2 +1 reviewed p.D42N 0.066 568 0% 326 44.5% 3 33.3% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SLC25A6 293 genome.wustl.edu 37 X 1508152 1508152 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001636.3 -1 reviewed p.V194M 0.998 18 0% 25 52% 1492 42.9% benign(0.044) tolerated(0.34) neutral(0.025) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ASMTL 8623 genome.wustl.edu 37 X 1537902 1537902 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004192.3 -1 reviewed p.R451C 0.000 8 0.000 11 0.727 94 53.1% probably_damaging(0.997) tolerated(0.11) deleterious(0.738) HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ASMTL 8623 genome.wustl.edu 37 X 1540710 1540710 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004192.3 -1 reviewed p.N362 0.014 204 0% 187 43.3% 60 38.3% - - - "HMMPfam_Methyltransf_2,superfamily_""Winged helix"" DNA-binding domain" LOC100288477 100288477 genome.wustl.edu 37 X 2161372 2161372 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343802.1 +1 model p.T103M 0.996 26 0% 25 56% 0 - - - - NULL ZBED1 9189 genome.wustl.edu 37 X 2407051 2407051 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004729.3 -1 reviewed p.E570D 1.000 16 0% 36 30.6% 27 51.8% benign(0.127) tolerated(0.09) neutral(0.307) NULL XG 7499 genome.wustl.edu 37 X 2726250 2726250 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001141919.1 +1 reviewed p.G148D 0.167 112 0% 66 33.3% 2 50% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL GYG2 8908 genome.wustl.edu 37 X 2773080 2773080 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003918.2 +1 reviewed p.A155V 1.000 77 0% 46 13% 13 7.6% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases ARSD 414 genome.wustl.edu 37 X 2828815 2828815 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001669.2 -1 reviewed p.I340 0.136 346 0% 211 38.4% 11 9% - - - HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like ARSD 414 genome.wustl.edu 37 X 2836183 2836183 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001669.2 -1 reviewed p.G175 1.000 6 0.000 7 0.571 19 57.8% - - - HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like ARSD 414 genome.wustl.edu 37 X 2843798 2843798 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001669.2 -1 reviewed p.L18S 0.000 164 0% 103 51.5% 14 57.1% unknown(0) tolerated(0.12) - NULL ARSE 415 genome.wustl.edu 37 X 2876407 2876407 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000047.2 -1 reviewed p.S31 0.000 56 0% 56 42.9% 1 0% - - - NULL MXRA5 25878 genome.wustl.edu 37 X 3228183 3228183 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015419.3 -1 reviewed p.R2687 0.224 17 0% 16 50% 33 42.4% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3228262 3228262 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015419.3 -1 reviewed p.P2661H 0.000 33 0% 29 41.4% 49 51% probably_damaging(0.954) tolerated(0.14) deleterious(0.647) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3235934 3235934 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015419.3 -1 reviewed p.A1930T 0.997 23 0% 32 50% 36 30.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3238984 3238984 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015419.3 -1 reviewed p.F1581C 0.000 355 0% 246 45.5% 20 45% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL NLGN4X 57502 genome.wustl.edu 37 X 5821171 5821171 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020742.2 -1 reviewed p.D516 0.999 50 0% 49 28.6% 0 - - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases LOC100288699 100288699 genome.wustl.edu 37 X 6451769 6451769 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343805.1 +1 model NULL 0.012 341 0% 269 29% 0 - unknown(0) deleterious(0) - - PNPLA4 8228 genome.wustl.edu 37 X 7894049 7894049 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142389.1 -1 reviewed p.A38T 0.995 96 0% 62 46.8% 9 0% possibly_damaging(0.871) tolerated(0.62) neutral(0.343) HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like KAL1 3730 genome.wustl.edu 37 X 8565162 8565162 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000216.2 -1 reviewed p.E152K 0.759 86 0% 51 43.1% 7 0% possibly_damaging(0.901) tolerated(0.23) neutral(0.398) HMMPfam_WAP,HMMSmart_WAP,superfamily_WAP,PatternScan_4_DISULFIDE_CORE FAM9A 171482 genome.wustl.edu 37 X 8763152 8763152 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174951.3 -1 validated p.E266D 0.014 230 0% 128 47.7% 0 - unknown(0) - - NULL FAM9A 171482 genome.wustl.edu 37 X 8764350 8764350 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174951.3 -1 validated p.K149N 0.001 1052 0% 542 41% 0 - possibly_damaging(0.952) tolerated(0.1) deleterious(0.682) NULL FAM9A 171482 genome.wustl.edu 37 X 8766189 8766189 + Splice_Site SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_174951.3 -1 validated e4+2 0.026 370 0% 180 12.2% 0 - - - - - TBL1X 6907 genome.wustl.edu 37 X 9656230 9656230 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001139466.1 +1 reviewed p.T177 0.000 17 0% 29 48.3% 2 0% - - - NULL TBL1X 6907 genome.wustl.edu 37 X 9656242 9656242 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001139466.1 +1 reviewed p.G181 0.000 18 0% 31 32.3% 2 100% - - - NULL GPR143 4935 genome.wustl.edu 37 X 9727407 9727407 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000447366 -1 known p.C76R 0.983 58 0% 37 37.8% 7 0% - - - HMMPfam_Ocular_alb SHROOM2 357 genome.wustl.edu 37 X 9900382 9900382 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001649.2 +1 reviewed p.R1020K 0.840 22 0% 25 56% 2 0% possibly_damaging(0.945) tolerated(1) neutral(0.390) NULL SHROOM2 357 genome.wustl.edu 37 X 9905646 9905646 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001649.2 +1 reviewed p.D1354N 0.997 35 0% 32 34.4% 5 0% benign(0.418) tolerated(0.11) neutral(0.407) HMMPfam_ASD2 WWC3 55841 genome.wustl.edu 37 X 10035455 10035455 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015691.3 +1 validated p.R49W 1.000 76 0% 52 25% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WWC3 55841 genome.wustl.edu 37 X 10035516 10035516 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015691.3 +1 validated p.R69H 1.000 43 0% 45 31.1% 7 0% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL CLCN4 1183 genome.wustl.edu 37 X 10163103 10163103 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001830.3 +1 reviewed p.Q133* 1.000 76 0% 47 42.6% 4 0% - - - superfamily_Clc chloride channel CLCN4 1183 genome.wustl.edu 37 X 10181838 10181838 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001830.3 +1 reviewed p.A565V 1.000 40 0% 44 54.5% 3 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel MID1 4281 genome.wustl.edu 37 X 10491158 10491158 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000381.2 -1 reviewed p.L244F 1.000 582 0% 285 44.2% 7 71.4% possibly_damaging(0.84) deleterious(0.03) deleterious(0.686) HMMSmart_SM00502 ARHGAP6 395 genome.wustl.edu 37 X 11174725 11174725 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013427.2 -1 reviewed p.E611K 1.000 128 0% 65 46.2% 0 - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL ARHGAP6 395 genome.wustl.edu 37 X 11682723 11682723 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013427.2 -1 reviewed p.G76S 0.001 5 0.000 14 0.429 1 100% benign(0.018) deleterious(0) neutral(0.445) NULL FRMPD4 9758 genome.wustl.edu 37 X 12734771 12734771 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014728.3 +1 reviewed p.I731 0.472 30 0% 31 48.4% 0 - - - - NULL TLR7 51284 genome.wustl.edu 37 X 12904321 12904321 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016562.3 +1 reviewed p.L232I 1.000 178 0% 49 14.3% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like TLR7 51284 genome.wustl.edu 37 X 12906390 12906390 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016562.3 +1 reviewed p.E921D 0.974 110 0.9% 70 45.7% 0 - benign(0.023) tolerated(0.78) neutral(0.002) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain TLR8 51311 genome.wustl.edu 37 X 12939225 12939225 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138636.4 +1 reviewed p.R689H 0.000 85 0% 39 15.4% 0 - benign(0.001) tolerated(0.59) neutral(0.004) superfamily_SSF52058 FAM9C 171484 genome.wustl.edu 37 X 13056587 13056587 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000438997 -1 known p.K118R 0.014 476 0% 271 11.1% 0 - - - - NULL FAM9C 171484 genome.wustl.edu 37 X 13057981 13057981 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000438997 -1 known p.S88* 0.000 882 0% 540 47.2% 0 - benign(0.053) tolerated(0.08) neutral(0.303) NULL ATXN3L 92552 genome.wustl.edu 37 X 13337650 13337650 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001135995.1 -1 validated p.S135F 1.000 150 0% 60 38.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Josephin FANCB 2187 genome.wustl.edu 37 X 14863362 14863362 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001018113.1 -1 reviewed p.D515N 0.000 121 0% 46 56.5% 4 0% benign(0) tolerated(0.7) neutral(0.002) NULL ASB9 140462 genome.wustl.edu 37 X 15266968 15266968 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031739.2 -1 reviewed p.D220N 1.000 72 0% 48 56.2% 1 100% possibly_damaging(0.829) tolerated(0.11) deleterious(0.586) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PIR 8544 genome.wustl.edu 37 X 15509288 15509288 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001018109.1 -1 reviewed p.P31 0.012 113 0.9% 79 48.1% 18 0% - - - HMMPfam_Pirin,superfamily_RmlC_like_cupin BMX 660 genome.wustl.edu 37 X 15543427 15543427 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001721.6 +1 reviewed p.D257Y 0.101 200 0.5% 59 42.4% 3 100% benign(0.002) tolerated(0.3) neutral(0.029) NULL BMX 660 genome.wustl.edu 37 X 15543483 15543483 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001721.6 +1 reviewed p.I275M 0.997 184 0% 52 46.2% 3 0% benign(0) tolerated(0.23) neutral(0.042) NULL ACE2 59272 genome.wustl.edu 37 X 15589779 15589779 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021804.2 -1 reviewed p.S602Y 0.133 286 0% 107 36.4% 0 - benign(0.011) deleterious(0.02) neutral(0.384) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" ACE2 59272 genome.wustl.edu 37 X 15609913 15609913 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021804.2 -1 reviewed p.R169I 1.000 189 0% 94 42.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" ACE2 59272 genome.wustl.edu 37 X 15610408 15610408 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021804.2 -1 reviewed p.S128I 1.000 616 0% 224 40.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" CA5B 11238 genome.wustl.edu 37 X 15782791 15782791 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007220.3 +1 reviewed p.P78L 0.993 109 0% 51 33.3% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ZRSR2 8233 genome.wustl.edu 37 X 15822290 15822290 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005089.3 +1 reviewed p.E123D 1.000 438 0% 200 41.5% 22 50% unknown(0) tolerated(0.08) - NULL CTPS2 56474 genome.wustl.edu 37 X 16701278 16701278 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144002.1 -1 reviewed p.A315V 0.340 152 0% 82 19.5% 4 0% benign(0.028) deleterious(0.03) neutral(0.366) HMMPfam_GATase,superfamily_Class I glutamine amidotransferase-like CTPS2 56474 genome.wustl.edu 37 X 16709723 16709723 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144002.1 -1 reviewed p.T220 0.007 138 0% 90 48.9% 6 0% - - - HMMPfam_CTP_synth_N,superfamily_P-loop containing nucleoside triphosphate hydrolases CTPS2 56474 genome.wustl.edu 37 X 16711539 16711539 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144002.1 -1 reviewed p.A170 0.586 183 0% 100 45% 3 0% - - - HMMPfam_CTP_synth_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SYAP1 94056 genome.wustl.edu 37 X 16759853 16759853 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032796.3 +1 validated p.P126S 1.000 266 0% 109 40.4% 95 43.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TXLNG 55787 genome.wustl.edu 37 X 16836796 16836796 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018360.2 +1 reviewed p.G68C 0.891 297 0% 171 39.8% 14 50% possibly_damaging(0.708) deleterious(0.01) deleterious(0.661) NULL REPS2 9185 genome.wustl.edu 37 X 17080607 17080607 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004726.2 +1 reviewed p.S387 0.984 466 0% 223 40.4% 13 0% - - - NULL REPS2 9185 genome.wustl.edu 37 X 17092258 17092258 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004726.2 +1 reviewed p.S452I 1.000 306 0% 180 15% 4 0% possibly_damaging(0.69) tolerated(0.34) neutral(0.270) NULL REPS2 9185 genome.wustl.edu 37 X 17157040 17157040 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004726.2 +1 reviewed p.A624T 1.000 174 0% 105 42.9% 16 93.7% possibly_damaging(0.643) tolerated(0.84) neutral(0.226) NULL NHS 4810 genome.wustl.edu 37 X 17745588 17745588 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198270.2 +1 reviewed p.E1100G 0.956 275 0% 204 21.1% 3 100% benign(0.02) tolerated(0.27) neutral(0.035) NULL SCML1 6322 genome.wustl.edu 37 X 17764148 17764148 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037540.1 +1 validated p.I43T 0.000 230 0% 98 16.3% 2 50% benign(0) tolerated(0.23) neutral(0.042) NULL BEND2 139105 genome.wustl.edu 37 X 18183237 18183237 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153346.4 -1 validated p.D764 0.000 75 0% 28 50% 0 - - - - HMMPfam_BEN BEND2 139105 genome.wustl.edu 37 X 18192195 18192195 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153346.4 -1 validated p.R646* 0.000 261 0.4% 100 36% 0 - - - - NULL BEND2 139105 genome.wustl.edu 37 X 18198649 18198649 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153346.4 -1 validated p.V470 0.000 299 0% 135 37% 0 - - - - NULL CDKL5 6792 genome.wustl.edu 37 X 18525251 18525251 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037343.1 +1 reviewed p.K12T 1.000 770 0% 395 41% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_Kinase_like PPEF1 5475 genome.wustl.edu 37 X 18842042 18842042 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006240.2 +1 reviewed p.G501 0.599 227 0% 128 37.5% 0 - - - - HMMSmart_SM00054,superfamily_Metallo-dependent phosphatases ENSG00000250774 0 genome.wustl.edu 37 X 18917277 18917277 + RNA SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000502927 +1 known NULL 0.000 101 0% 90 54.4% 5 0% - - - - ENSG00000250774 0 genome.wustl.edu 37 X 18917427 18917427 + RNA SNP G G A rs185271262 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000502927 +1 known NULL 0.000 130 0% 97 34% 0 - - - - - ENSG00000250774 0 genome.wustl.edu 37 X 18918640 18918640 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000502927 +1 known NULL 0.000 38 0% 36 47.2% 1 0% - - - - PHKA2 5256 genome.wustl.edu 37 X 18938222 18938222 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000292.2 -1 reviewed p.A631T 0.001 223 0% 113 47.8% 9 100% benign(0) tolerated(0.7) neutral(0.002) HMMPfam_PHK_AB MAP3K15 389840 genome.wustl.edu 37 X 19379664 19379665 + Frame_Shift_Ins INS - - T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001671.3 -1 validated p.E717fs 0.933:0.097 - - - - - - - - - superfamily_SAM_homology MAP3K15 389840 genome.wustl.edu 37 X 19398268 19398268 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001671.3 -1 validated p.E328D 1.000 71 0% 59 40.7% 0 - probably_damaging(0.978) deleterious(0.02) deleterious(0.803) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAP3K15 389840 genome.wustl.edu 37 X 19410584 19410584 + Silent SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001671.3 -1 validated p.L209 0.990 169 0% 116 44% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAP3K15 389840 genome.wustl.edu 37 X 19443762 19443762 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000338883 -1 known p.K442N 1.000 226 0% 94 44.7% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL MAP3K15 389840 genome.wustl.edu 37 X 19444457 19444457 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000338883 -1 known p.R391C 1.000 213 0% 86 41.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CXorf23 256643 genome.wustl.edu 37 X 19968952 19968952 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198279.3 -1 validated p.R555Q 1.000 495 0.2% 235 40.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CXorf23 256643 genome.wustl.edu 37 X 19983324 19983324 + Missense_Mutation SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198279.3 -1 validated p.E371V 0.204 354 0.3% 140 38.6% 0 - benign(0.255) deleterious(0.01) neutral(0.432) NULL MAP7D2 256714 genome.wustl.edu 37 X 20043149 20043149 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152780.3 -1 validated p.I403 1.000 205 0% 117 49.6% 0 - - - - HMMPfam_MAP7 EIF1AX 1964 genome.wustl.edu 37 X 20150319 20150319 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001412.3 -1 reviewed p.Y106 0.999 176 0% 98 34.7% 151 38.4% - - - HMMSmart_SM00652,superfamily_Nucleic acid-binding proteins RPS6KA3 6197 genome.wustl.edu 37 X 20187558 20187558 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004586.2 -1 reviewed p.R469C 1.000 517 0% 181 51.4% 9 88.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SMPX 23676 genome.wustl.edu 37 X 21755699 21755699 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014332.1 -1 provisional p.V83 1.000 647 0.2% 206 44.7% 0 - - - - NULL PHEX 5251 genome.wustl.edu 37 X 22239763 22239763 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000444.4 +1 reviewed p.P601H 1.000 360 0% 140 42.1% 0 - possibly_damaging(0.835) tolerated(0.1) deleterious(0.605) HMMPfam_Peptidase_M13,superfamily_SSF55486 PHEX 5251 genome.wustl.edu 37 X 22244607 22244607 + Silent SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000444.4 +1 reviewed p.G649 0.951 334 0% 163 44.2% 1 0% - - - HMMPfam_Peptidase_M13,superfamily_SSF55486 DDX53 168400 genome.wustl.edu 37 X 23019821 23019821 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182699.2 +1 validated p.D549 1.000 209 0% 95 44.2% 0 - - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 ENSG00000249566 0 genome.wustl.edu 37 X 23093821 23093821 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000508288 -1 novel NULL 0.039 44 0% 35 28.6% 15 0% - - - - PTCHD1 139411 genome.wustl.edu 37 X 23397874 23397874 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173495.2 +1 validated p.I173T 1.000 78 0% 50 38% 0 - possibly_damaging(0.575) deleterious(0) deleterious(0.641) HMMPfam_Patched PTCHD1 139411 genome.wustl.edu 37 X 23410774 23410774 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173495.2 +1 validated p.A380V 1.000 161 0% 77 45.5% 0 - possibly_damaging(0.509) - - HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain PTCHD1 139411 genome.wustl.edu 37 X 23412219 23412219 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173495.2 +1 validated p.P862S 1.000 146 0% 72 41.7% 1 100% benign(0.039) tolerated(0.34) neutral(0.025) NULL CXorf58 254158 genome.wustl.edu 37 X 23956734 23956734 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152761.2 +1 validated p.R286C 0.037 222 0% 114 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EIF2S3 1968 genome.wustl.edu 37 X 24091279 24091279 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001415.3 +1 reviewed p.S418 0.993 303 0% 178 44.4% 163 63.1% - - - superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain,HMMPfam_eIF2_C ZFX 7543 genome.wustl.edu 37 X 24228578 24228578 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003410.3 +1 reviewed p.G501 0.995 231 0% 141 41.1% 6 83.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FAM48B1 100130302 genome.wustl.edu 37 X 24381248 24381248 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136234.1 +1 inferred p.A124V 0.028 276 0% 201 32.3% 0 - - - - NULL FAM48B1 100130302 genome.wustl.edu 37 X 24381605 24381605 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136234.1 +1 inferred p.S243L 0.010 87 0% 75 38.7% 0 - - - - NULL FAM48B1 100130302 genome.wustl.edu 37 X 24382865 24382865 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136234.1 +1 inferred p.V663A 0.000 30 0% 31 25.8% 0 - - - - NULL LOC389842 389842 genome.wustl.edu 37 X 25664170 25664170 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_372200.7 -1 model p.R92M 1.000 51 0% 55 36.4% 0 - - - - HMMPfam_Ran_BP1,HMMSmart_SM00160,superfamily_PH domain-like LOC389842 389842 genome.wustl.edu 37 X 25664324 25664324 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_372200.7 -1 model p.L41 0.982 70 0% 51 47.1% 0 - - - - HMMPfam_Ran_BP1,HMMSmart_SM00160,superfamily_PH domain-like MAGEB18 286514 genome.wustl.edu 37 X 26157748 26157748 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173699.3 +1 validated p.E216* 0.142 61 0% 48 47.9% 0 - - - - HMMPfam_MAGE MAGEB10 139422 genome.wustl.edu 37 X 27839469 27839469 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182506.3 +1 reviewed p.R16C 0.000 42 0% 20 55% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL MAGEB10 139422 genome.wustl.edu 37 X 27840252 27840252 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182506.3 +1 reviewed p.P277T 0.004 166 0% 69 14.5% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_MAGE MAGEB10 139422 genome.wustl.edu 37 X 27840332 27840332 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182506.3 +1 reviewed p.F303L 0.001 103 0% 44 40.9% 0 - possibly_damaging(0.69) deleterious(0.04) deleterious(0.596) NULL LOC392435 392435 genome.wustl.edu 37 X 27850514 27850514 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343800.1 +1 model p.A109V 0.000 22 0.000 5 0.800 0 - - - - NULL IL1RAPL1 11141 genome.wustl.edu 37 X 29301121 29301121 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014271.3 +1 reviewed p.R50Q 1.000 359 0% 179 50.3% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IL1RAPL1 11141 genome.wustl.edu 37 X 29938174 29938174 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014271.3 +1 reviewed p.N340K 1.000 342 0% 133 44.4% 0 - benign(0.163) tolerated(1) neutral(0.015) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin MAGEB4 4115 genome.wustl.edu 37 X 30260501 30260501 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002367.3 +1 reviewed p.G83 0.000 59 0% 62 12.9% 0 - - - - NULL TAB3 257397 genome.wustl.edu 37 X 30872309 30872309 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152787.3 -1 reviewed p.G491 1.000 106 0% 75 34.7% 2 0% - - - NULL FTHL17 53940 genome.wustl.edu 37 X 31089601 31089601 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031894.2 -1 reviewed p.R157H 0.001 31 0% 42 47.6% 0 - benign(0.068) tolerated(0.15) neutral(0.245) HMMPfam_Ferritin,superfamily_Ferritin/RR_like FTHL17 53940 genome.wustl.edu 37 X 31089747 31089747 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031894.2 -1 reviewed p.E108D 0.999 37 0% 34 44.1% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Ferritin,superfamily_Ferritin/RR_like DMD 1756 genome.wustl.edu 37 X 31165593 31165593 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000465285 -1 known p.T1261A 0.990 37 0% 27 22.2% 12 0% - - - superfamily_Prefoldin DMD 1756 genome.wustl.edu 37 X 31196049 31196049 + Missense_Mutation SNP G G A rs104894791 byCluster TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004006.2 -1 reviewed p.A3421V 1.000 204 0.5% 85 48.2% 1 0% probably_damaging(0.958) deleterious(0.03) deleterious(0.766) NULL DMD 1756 genome.wustl.edu 37 X 31645828 31645828 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004006.2 -1 reviewed p.D2727Y 1.000 232 0% 111 46.8% 0 - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 31747812 31747812 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000465285 -1 known p.R261C 1.000 480 0% 303 41.6% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 31986488 31986488 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004006.2 -1 reviewed p.E2194D 0.999 303 0% 78 42.3% 0 - benign(0) tolerated(0.6) neutral(0.004) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32404463 32404463 + Silent SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004006.2 -1 reviewed p.T1546 1.000 624 0% 160 40% 2 0% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 33229399 33229399 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004006.2 -1 reviewed p.Y11H 1.000 300 0% 57 40.4% 0 - possibly_damaging(0.807) deleterious(0) deleterious(0.748) NULL FAM47A 158724 genome.wustl.edu 37 X 34148208 34148208 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203408.3 -1 validated p.L730I 0.012 334 0% 185 47.6% 0 - probably_damaging(0.979) tolerated(0.16) deleterious(0.481) NULL FAM47B 170062 genome.wustl.edu 37 X 34961966 34961966 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152631.2 +1 validated p.R340W 0.064 41 0% 36 47.2% 0 - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) NULL FAM47B 170062 genome.wustl.edu 37 X 34962518 34962518 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152631.2 +1 validated p.R524W 0.000 101 0% 85 47.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CXorf22 170063 genome.wustl.edu 37 X 35985783 35985783 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152632.3 +1 validated p.D550Y 0.920 156 0% 48 31.2% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL CXorf30 645090 genome.wustl.edu 37 X 36379605 36379605 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001098843.3 +1 validated p.K450N 0.873 158 0% 49 36.7% 0 - benign(0.004) tolerated(0.3) neutral(0.029) NULL FAM47C 442444 genome.wustl.edu 37 X 37028324 37028324 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013736.2 +1 validated p.R614H 0.000 50 0% 49 26.5% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL FAM47C 442444 genome.wustl.edu 37 X 37029141 37029141 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013736.2 +1 validated p.K886N 0.000 130 0% 102 39.2% 0 - benign(0.195) tolerated(0.25) neutral(0.055) NULL TSPAN7 7102 genome.wustl.edu 37 X 38530645 38530645 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004615.3 +1 reviewed p.S96P 1.000 518 0% 179 34.1% 11 0% possibly_damaging(0.78) tolerated(0.23) neutral(0.333) HMMPfam_Tetraspannin TSPAN7 7102 genome.wustl.edu 37 X 38530697 38530697 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004615.3 +1 reviewed p.R113H 1.000 404 0.2% 157 42.7% 12 100% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_Tetraspanin,HMMPfam_Tetraspannin TSPAN7 7102 genome.wustl.edu 37 X 38534999 38534999 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004615.3 +1 reviewed p.T161I 1.000 84 0% 36 55.6% 21 100% benign(0.021) tolerated(0.2) neutral(0.050) superfamily_Tetraspanin,HMMPfam_Tetraspannin TSPAN7 7102 genome.wustl.edu 37 X 38540518 38540518 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004615.3 +1 reviewed p.A220T 1.000 126 0% 62 43.5% 17 88.2% benign(0.159) tolerated(0.13) neutral(0.267) HMMPfam_Tetraspannin BCOR 54880 genome.wustl.edu 37 X 39913153 39913153 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001123385.1 -1 reviewed p.V1654 1.000 66 0% 38 55.3% 25 12% - - - NULL BCOR 54880 genome.wustl.edu 37 X 39921421 39921421 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001123385.1 -1 reviewed p.L1467M 1.000 26 0% 17 58.8% 28 3.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat BCOR 54880 genome.wustl.edu 37 X 39932069 39932069 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001123385.1 -1 reviewed p.P844S 0.040 64 0% 67 43.3% 16 87.5% benign(0.122) deleterious(0) neutral(0.455) NULL BCOR 54880 genome.wustl.edu 37 X 39933022 39933022 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001123385.1 -1 reviewed p.S526L 0.058 56 0% 54 42.6% 23 100% benign(0.032) deleterious(0.02) neutral(0.385) NULL ATP6AP2 10159 genome.wustl.edu 37 X 40448369 40448369 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005765.2 +1 reviewed e2+1 1.000 145 0% 68 41.2% 0 - - - - - ATP6AP2 10159 genome.wustl.edu 37 X 40450601 40450601 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005765.2 +1 reviewed p.S95L 0.998 111 0% 64 51.6% 115 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MED14 9282 genome.wustl.edu 37 X 40569376 40569376 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004229.3 -1 reviewed p.Q343P 1.000 169 0% 60 53.3% 18 16.6% possibly_damaging(0.78) deleterious(0.04) deleterious(0.640) NULL USP9X 8239 genome.wustl.edu 37 X 40988333 40988333 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039590.2 +1 reviewed p.Q59 1.000 186 0% 79 40.5% 10 20% - - - NULL USP9X 8239 genome.wustl.edu 37 X 40996173 40996173 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039590.2 +1 reviewed p.F184L 1.000 320 0% 136 50.7% 11 81.8% probably_damaging(0.955) deleterious(0.01) deleterious(0.804) NULL USP9X 8239 genome.wustl.edu 37 X 41003881 41003881 + Splice_Site SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039590.2 +1 reviewed e10+2 1.000 551 0% 196 36.7% 1 100% - - - - USP9X 8239 genome.wustl.edu 37 X 41073963 41073963 + Splice_Site SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039590.2 +1 reviewed e33+1 1.000 282 0% 130 37.7% 0 - - - - - USP9X 8239 genome.wustl.edu 37 X 41078377 41078377 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039590.2 +1 reviewed p.S2153N 1.000 301 0% 148 50% 38 57.8% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) NULL DDX3X 1654 genome.wustl.edu 37 X 41200736 41200736 + Splice_Site SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001356.3 +1 reviewed e4-1 1.000 329 0% 166 38% 6 83.3% - - - - DDX3X 1654 genome.wustl.edu 37 X 41205842 41205842 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001356.3 +1 reviewed p.R528C 1.000 415 0% 252 45.2% 234 60.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases CASK 8573 genome.wustl.edu 37 X 41437631 41437631 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003688.3 -1 reviewed p.R489W 1.000 288 0.3% 127 56.7% 20 95% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PDZ GPR34 2857 genome.wustl.edu 37 X 41554985 41554985 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001097579.1 +1 validated p.P33 0.000 113 0% 62 45.2% 1 0% - - - superfamily_Family A G protein-coupled receptor-like GPR34 2857 genome.wustl.edu 37 X 41555341 41555341 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001097579.1 +1 validated p.R152H 1.000 226 0% 92 46.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like GPR82 27197 genome.wustl.edu 37 X 41586764 41586764 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080817.4 +1 validated p.V162G 0.001 65 0% 39 43.6% 0 - possibly_damaging(0.688) deleterious(0) deleterious(0.691) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR82 27197 genome.wustl.edu 37 X 41586925 41586925 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080817.4 +1 validated p.V216I 0.993 128 0% 70 38.6% 1 0% benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MAOB 4129 genome.wustl.edu 37 X 43656486 43656486 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000898.4 -1 reviewed p.F168L 1.000 64 0% 27 44.4% 9 0% benign(0.279) tolerated(0.14) neutral(0.279) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain MAOB 4129 genome.wustl.edu 37 X 43662652 43662652 + Splice_Site SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000898.4 -1 reviewed e4-1 1.000 178 0% 59 44.1% 0 - - - - - FUNDC1 139341 genome.wustl.edu 37 X 44383468 44383468 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173794.3 -1 validated p.G148 1.000 353 0% 182 51.1% 16 100% - - - HMMPfam_FUN14 DUSP21 63904 genome.wustl.edu 37 X 44703761 44703761 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022076.3 +1 reviewed p.S128L 0.757 37 0% 32 46.9% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 KDM6A 7403 genome.wustl.edu 37 X 44929557 44929557 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021140.2 +1 reviewed p.S886Y 1.000 96 0% 43 48.8% 19 68.4% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL ZNF674 641339 genome.wustl.edu 37 X 46359626 46359626 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039891.2 -1 validated p.E466D 1.000 255 0% 118 44.1% 2 0% possibly_damaging(0.833) deleterious(0.03) deleterious(0.682) superfamily_SSF57667 ZNF674 641339 genome.wustl.edu 37 X 46359726 46359726 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039891.2 -1 validated p.R433I 0.885 298 0% 114 43.9% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF674 641339 genome.wustl.edu 37 X 46359810 46359810 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039891.2 -1 validated p.R405K 1.000 312 0% 129 47.3% 1 100% possibly_damaging(0.636) tolerated(0.42) neutral(0.237) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CHST7 56548 genome.wustl.edu 37 X 46433678 46433678 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019886.2 +1 reviewed p.I104 0.999 12 0% 12 41.7% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 SLC9A7 84679 genome.wustl.edu 37 X 46522040 46522040 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032591.1 -1 reviewed p.V278M 1.000 118 0% 61 11.5% 3 0% possibly_damaging(0.947) deleterious(0.02) deleterious(0.774) HMMPfam_Na_H_Exchanger RP2 6102 genome.wustl.edu 37 X 46713439 46713439 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006915.2 +1 reviewed p.R211C 0.845 124 0% 60 46.7% 10 0% probably_damaging(0.98) deleterious(0.05) deleterious(0.769) NULL PHF16 9767 genome.wustl.edu 37 X 46913650 46913650 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077445.1 +1 reviewed p.E355K 1.000 58 0% 31 54.8% 8 0% probably_damaging(0.959) tolerated(0.08) deleterious(0.703) HMMSmart_PHD PHF16 9767 genome.wustl.edu 37 X 46913745 46913745 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077445.1 +1 reviewed p.S386 0.989 68 0% 32 31.2% 2 100% - - - NULL RBM10 8241 genome.wustl.edu 37 X 47045565 47045565 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005676.3 +1 reviewed p.A844 0.637 24 0% 18 61.1% 90 0% - - - NULL UBA1 7317 genome.wustl.edu 37 X 47068949 47068949 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000377269 +1 known p.G70 0.001 45 0% 39 38.5% 3 100% - - - NULL USP11 8237 genome.wustl.edu 37 X 47100187 47100187 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004651.3 +1 reviewed p.S296L 0.000 60 0% 43 53.5% 53 84.9% benign(0) tolerated(0.07) neutral(0.319) NULL USP11 8237 genome.wustl.edu 37 X 47100774 47100774 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004651.3 +1 reviewed p.I358 0.226 41 0% 48 47.9% 61 1.6% - - - HMMPfam_UCH,superfamily_SSF54001 ZNF157 7712 genome.wustl.edu 37 X 47270119 47270119 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003446.3 +1 reviewed p.E80 0.875 94 0% 47 27.7% 0 - - - - HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF157 7712 genome.wustl.edu 37 X 47271794 47271794 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003446.3 +1 reviewed p.G108S 0.874 276 0% 98 15.3% 0 - benign(0) tolerated(0.74) neutral(0.002) NULL ARAF 369 genome.wustl.edu 37 X 47424532 47424532 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001654.3 +1 reviewed p.R151H 1.000 42 2.4% 55 41.8% 33 93.9% benign(0.155) deleterious(0.03) neutral(0.378) NULL SYN1 6853 genome.wustl.edu 37 X 47464397 47464397 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006950.3 -1 reviewed p.Y252H 1.000 431 0% 226 37.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like ELK1 2002 genome.wustl.edu 37 X 47498388 47498388 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001114123.1 -1 reviewed p.A187V 0.906 7 0.000 6 0.833 29 93.1% benign(0.048) tolerated(0.24) neutral(0.041) NULL ZNF81 347344 genome.wustl.edu 37 X 47775056 47775056 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007137.3 +1 reviewed p.K337N 0.830 122 0% 22 50% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF630 57232 genome.wustl.edu 37 X 47919430 47919430 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001037735.2 -1 validated p.R134K 0.001 259 0% 82 41.5% 0 - possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL SSX6 280657 genome.wustl.edu 37 X 47976466 47976466 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000304314 +1 known p.D176N 0.002 176 0% 160 43.8% 0 - benign(0.004) tolerated(0.23) neutral(0.042) NULL SSX5 6758 genome.wustl.edu 37 X 48054519 48054519 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021015.3 -1 reviewed p.L39P 0.003 119 0% 90 52.2% 0 - probably_damaging(0.97) tolerated(0.05) deleterious(0.758) NULL SSX1 6756 genome.wustl.edu 37 X 48118018 48118018 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005635.2 +1 reviewed p.D78N 0.000 565 0% 258 21.3% 0 - probably_damaging(1) tolerated(0.31) deleterious(0.527) HMMSmart_KRAB,superfamily_Krueppel-associated_box SSX1 6756 genome.wustl.edu 37 X 48123353 48123353 + Splice_Site SNP G G A rs181630989 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005635.2 +1 reviewed e5+1 0.066 176 0% 71 40.8% 0 - - - - - SSX9 280660 genome.wustl.edu 37 X 48159165 48159165 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000376909 -1 known p.S123L 0.001 446 0% 208 35.6% 0 - benign(0.004) tolerated(0.2) neutral(0.049) NULL SSX4 6759 genome.wustl.edu 37 X 48244867 48244867 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005636.3 +1 reviewed p.N86 0.000 635 0.2% 417 22.8% 0 - - - - NULL SLC38A5 92745 genome.wustl.edu 37 X 48319407 48319407 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033518.2 -1 validated p.G306E 0.925 19 0% 15 53.3% 0 - benign(0.134) deleterious(0.01) neutral(0.417) HMMPfam_Aa_trans FTSJ1 24140 genome.wustl.edu 37 X 48341093 48341093 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012280.2 +1 reviewed p.I290V 0.019 35 0% 27 37% 54 98.1% benign(0) tolerated(0.7) neutral(0.002) NULL PORCN 64840 genome.wustl.edu 37 X 48378850 48378850 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_203475.1 +1 reviewed p.R458C 1.000 66 0% 73 41.1% 30 90% benign(0.022) tolerated(0.17) neutral(0.060) NULL GATA1 2623 genome.wustl.edu 37 X 48650389 48650389 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002049.3 +1 reviewed p.A120V 0.972 25 0% 20 35% 0 - benign(0.028) tolerated(0.12) neutral(0.262) NULL HDAC6 10013 genome.wustl.edu 37 X 48661191 48661191 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006044.2 +1 reviewed p.S31L 0.364 62 0% 52 28.8% 9 0% unknown(0) tolerated(1) - NULL HDAC6 10013 genome.wustl.edu 37 X 48661282 48661282 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006044.2 +1 reviewed p.R33Q 0.557 104 0% 70 44.3% 10 0% unknown(0) deleterious(0) - NULL HDAC6 10013 genome.wustl.edu 37 X 48673430 48673430 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006044.2 +1 reviewed p.A374V 0.998 12 0% 16 68.8% 31 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Hist_deacetyl,superfamily_SSF52768 HDAC6 10013 genome.wustl.edu 37 X 48674906 48674906 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006044.2 +1 reviewed p.K553Q 0.063 39 0% 25 52% 29 0% benign(0.203) tolerated(0.44) neutral(0.032) HMMPfam_Hist_deacetyl,superfamily_SSF52768 HDAC6 10013 genome.wustl.edu 37 X 48681175 48681175 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006044.2 +1 reviewed p.R828H 0.977 36 0% 47 36.2% 22 0% possibly_damaging(0.921) deleterious(0.04) deleterious(0.720) superfamily_SSF52768 ERAS 3266 genome.wustl.edu 37 X 48687920 48687920 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_181532.2 +1 provisional p.I129 0.978 4 0.000 16 0.500 0 - - - - HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 TIMM17B 10245 genome.wustl.edu 37 X 48754113 48754113 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005834.3 -1 reviewed p.G19* 1.000 30 0% 26 23.1% 23 95.6% - - - HMMPfam_Tim17 PIM2 11040 genome.wustl.edu 37 X 48775920 48775920 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006875.3 -1 reviewed p.G22C 1.000 3 0.000 6 0.667 11 0% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) superfamily_Kinase_like OTUD5 55593 genome.wustl.edu 37 X 48781194 48781194 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017602.3 -1 reviewed p.G472S 1.000 45 0% 33 39.4% 85 0% benign(0) tolerated(0.36) neutral(0.020) NULL OTUD5 55593 genome.wustl.edu 37 X 48781228 48781228 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017602.3 -1 reviewed p.S460 0.215 32 0% 27 48.1% 59 91.5% - - - NULL OTUD5 55593 genome.wustl.edu 37 X 48781301 48781301 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017602.3 -1 reviewed p.S436L 0.991 22 0% 13 46.2% 57 0% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL KCND1 3750 genome.wustl.edu 37 X 48826500 48826500 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004979.4 -1 reviewed p.R60H 1.000 4 0.000 17 0.353 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain WDR45 11152 genome.wustl.edu 37 X 48934314 48934314 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007075.3 -1 reviewed p.R112C 1.000 43 0% 52 48.1% 71 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_WD40,superfamily_WD40_like MAGIX 79917 genome.wustl.edu 37 X 49021411 49021411 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024859.2 +1 validated p.R164C 0.998 14 0% 18 44.4% 11 90.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PRICKLE3 4007 genome.wustl.edu 37 X 49032170 49032170 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006150.3 -1 reviewed p.R567H 0.995 36 0% 31 48.4% 22 0% probably_damaging(0.977) deleterious(0) deleterious(0.863) NULL SYP 6855 genome.wustl.edu 37 X 49047957 49047957 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000472598 -1 known p.A183V 0.998 10 0.000 8 0.625 0 - - - - NULL CACNA1F 778 genome.wustl.edu 37 X 49071569 49071569 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005183.2 -1 reviewed p.N1203D 1.000 86 0% 49 16.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels CACNA1F 778 genome.wustl.edu 37 X 49074955 49074955 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005183.2 -1 reviewed p.L974M 1.000 52 0% 41 17.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1F 778 genome.wustl.edu 37 X 49081223 49081223 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005183.2 -1 reviewed p.R637K 1.000 69 0% 50 42% 0 - benign(0.029) tolerated(1) neutral(0.002) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1F 778 genome.wustl.edu 37 X 49088171 49088171 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005183.2 -1 reviewed p.R82* 0.997 39 0% 44 40.9% 0 - - - - superfamily_Voltage-gated potassium channels FOXP3 50943 genome.wustl.edu 37 X 49108005 49108005 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000455775 -1 known p.W387* 0.000 27 0% 24 54.2% 0 - - - - HMMPfam_Fork_head,HMMSmart_FH FOXP3 50943 genome.wustl.edu 37 X 49110411 49110411 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014009.3 -1 reviewed p.L312M 1.000 7 0.000 13 0.538 6 33.3% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL PAGE1 8712 genome.wustl.edu 37 X 49458716 49458716 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003785.3 -1 reviewed p.A51V 0.035 238 0% 145 48.3% 0 - probably_damaging(1) - - HMMPfam_GAGE CLCN5 1184 genome.wustl.edu 37 X 49851062 49851062 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127898.1 +1 reviewed p.S364 1.000 324 0% 120 15% 1 0% - - - HMMPfam_Voltage_CLC,superfamily_Clc chloride channel CLCN5 1184 genome.wustl.edu 37 X 49855007 49855007 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127898.1 +1 reviewed p.R660I 0.998 159 0% 55 32.7% 5 0% benign(0.002) tolerated(0.34) neutral(0.023) superfamily_CBS-domain AKAP4 8852 genome.wustl.edu 37 X 49958367 49958367 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003886.2 -1 reviewed p.L333F 0.293 51 0% 28 39.3% 0 - possibly_damaging(0.95) deleterious(0.03) deleterious(0.758) HMMPfam_AKAP_110,HMMSmart_SM00807 AKAP4 8852 genome.wustl.edu 37 X 49958506 49958506 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003886.2 -1 reviewed p.M286I 0.990 86 0% 41 43.9% 0 - benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_AKAP_110,HMMSmart_SM00807 CCNB3 85417 genome.wustl.edu 37 X 50028198 50028198 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033031.2 +1 reviewed p.P12H 0.003 132 0% 70 10% 0 - unknown(0) - - NULL CCNB3 85417 genome.wustl.edu 37 X 50037981 50037981 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033031.2 +1 reviewed p.R108Q 0.000 349 0% 130 43.8% 0 - probably_damaging(0.963) - - NULL CCNB3 85417 genome.wustl.edu 37 X 50085252 50085252 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033031.2 +1 reviewed p.D1190N 1.000 172 0% 123 42.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like NUDT10 170685 genome.wustl.edu 37 X 51076183 51076183 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000356450 +1 known p.V122 0.960 78 0% 91 30.8% 1 0% - - - HMMPfam_NUDIX,superfamily_Nudix GSPT2 23708 genome.wustl.edu 37 X 51487904 51487904 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018094.4 +1 reviewed p.T394 0.134 166 0% 102 42.2% 0 - - - - HMMPfam_GTP_EFTU,superfamily_SSF52540 GSPT2 23708 genome.wustl.edu 37 X 51488105 51488105 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018094.4 +1 reviewed p.L461 0.994 152 0% 115 47% 1 0% - - - HMMPfam_GTP_EFTU_D2,superfamily_Translat_factor MAGED1 9500 genome.wustl.edu 37 X 51641229 51641229 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001005333.1 +1 reviewed p.L616F 1.000 234 0% 174 36.8% 217 94% unknown(0) tolerated(0.12) - HMMPfam_MAGE XAGE5 170627 genome.wustl.edu 37 X 52842217 52842217 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_130775.2 +1 reviewed p.D42 0.007 287 0% 227 37.4% 0 - - - - HMMPfam_GAGE GPR173 54328 genome.wustl.edu 37 X 53105993 53105993 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018969.5 +1 reviewed p.L64 1.000 17 0% 20 50% 2 100% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TSPYL2 64061 genome.wustl.edu 37 X 53115119 53115119 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022117.3 +1 reviewed p.N515 0.281 327 0% 244 10.2% 48 29.1% - - - NULL KDM5C 8242 genome.wustl.edu 37 X 53222381 53222381 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004187.3 -1 reviewed p.S1484N 1.000 9 0.000 21 0.524 86 18.6% benign(0.002) tolerated(0.25) neutral(0.037) NULL KDM5C 8242 genome.wustl.edu 37 X 53223668 53223668 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004187.3 -1 reviewed p.P1231T 1.000 23 0% 28 32.1% 117 11.9% possibly_damaging(0.83) tolerated(0.31) neutral(0.343) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD KDM5C 8242 genome.wustl.edu 37 X 53225142 53225142 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004187.3 -1 reviewed p.L1026F 1.000 104 0% 100 47% 64 71.8% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_PLU-1 KDM5C 8242 genome.wustl.edu 37 X 53227672 53227672 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004187.3 -1 reviewed p.G839V 1.000 27 0% 31 32.3% 45 40% benign(0.071) tolerated(0.05) neutral(0.350) HMMPfam_PLU-1 KDM5C 8242 genome.wustl.edu 37 X 53245347 53245347 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004187.3 -1 reviewed p.N230 1.000 99 0% 58 19% 28 28.5% - - - NULL IQSEC2 23096 genome.wustl.edu 37 X 53272624 53272624 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001111125.1 -1 validated p.D927N 1.000 22 0% 27 40.7% 4 100% possibly_damaging(0.839) deleterious(0.01) deleterious(0.726) HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7 SMC1A 8243 genome.wustl.edu 37 X 53440219 53440219 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006306.2 -1 reviewed p.A193V 0.997 216 0% 176 45.5% 34 61.7% benign(0.171) tolerated(0.21) neutral(0.059) HMMPfam_SMC_N,superfamily_SSF52540 RIBC1 158787 genome.wustl.edu 37 X 53456822 53456822 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031745.1 +1 provisional p.R189C 0.546 27 0% 24 54.2% 3 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RIB43A HUWE1 10075 genome.wustl.edu 37 X 53561130 53561130 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031407.4 -1 reviewed p.S4287Y 1.000 53 0% 36 38.9% 232 0.4% unknown(0) deleterious(0) - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HUWE1 10075 genome.wustl.edu 37 X 53563539 53563539 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031407.4 -1 reviewed p.P4076H 1.000 133 0% 87 37.9% 173 0% unknown(0) deleterious(0) - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HUWE1 10075 genome.wustl.edu 37 X 53571575 53571575 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031407.4 -1 reviewed p.L3733I 1.000 57 0% 33 33.3% 91 98.9% unknown(0) tolerated(0.53) - NULL HUWE1 10075 genome.wustl.edu 37 X 53576423 53576423 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031407.4 -1 reviewed p.R3178W 1.000 47 0% 26 34.6% 64 92.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL HUWE1 10075 genome.wustl.edu 37 X 53600893 53600893 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000427052 -1 known p.E1077* 1.000 142 0% 140 12.1% 20 5% possibly_damaging(0.794) tolerated(0.14) deleterious(0.547) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53672376 53672376 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031407.4 -1 reviewed p.V131M 1.000 152 0% 79 15.2% 22 27.2% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_DUF908 PHF8 23133 genome.wustl.edu 37 X 54012295 54012295 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015107.2 -1 reviewed p.L695F 0.998 154 0% 144 50% 26 96.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PHF8 23133 genome.wustl.edu 37 X 54029033 54029033 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015107.2 -1 reviewed p.Q343H 1.000 95 0% 45 15.6% 29 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00558,superfamily_Clavaminate synthase-like WNK3 65267 genome.wustl.edu 37 X 54278089 54278089 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020922.4 -1 reviewed p.K800T 1.000 259 0% 124 41.1% 0 - benign(0.059) deleterious(0.01) neutral(0.410) superfamily_Kinase_like FGD1 2245 genome.wustl.edu 37 X 54475605 54475605 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004463.2 -1 reviewed p.R749C 1.000 36 0% 45 42.2% 21 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FYVE,HMMSmart_FYVE,superfamily_FYVE_PHD_ZnF FGD1 2245 genome.wustl.edu 37 X 54496461 54496461 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004463.2 -1 reviewed p.Q363 1.000 25 0% 25 48% 16 0% - - - superfamily_DH-domain MAGED2 10916 genome.wustl.edu 37 X 54837554 54837554 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014599.4 +1 reviewed p.Q280* 0.972 129 0% 81 51.9% 21 23.8% - - - NULL TRO 7216 genome.wustl.edu 37 X 54949114 54949114 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039705.1 +1 reviewed p.A50V 0.714 42 0% 37 32.4% 0 - possibly_damaging(0.631) tolerated(0.16) neutral(0.280) NULL TRO 7216 genome.wustl.edu 37 X 54950191 54950191 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039705.1 +1 reviewed p.R409I 0.996 42 0% 28 50% 0 - possibly_damaging(0.832) deleterious(0.03) deleterious(0.681) NULL PFKFB1 5207 genome.wustl.edu 37 X 54985328 54985328 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002625.2 -1 reviewed p.R139* 1.000 286 0% 116 40.5% 0 - - - - HMMPfam_6PF2K,superfamily_SSF52540 APEX2 27301 genome.wustl.edu 37 X 55033333 55033333 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014481.2 +1 reviewed p.R341H 0.000 25 0% 20 50% 41 0% benign(0.042) tolerated(0.13) neutral(0.255) NULL APEX2 27301 genome.wustl.edu 37 X 55033511 55033511 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014481.2 +1 reviewed p.S400 0.000 57 0% 48 56.2% 24 0% - - - NULL ALAS2 212 genome.wustl.edu 37 X 55042168 55042168 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000032.4 -1 reviewed p.I337 1.000 60 0% 32 46.9% 0 - - - - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ALAS2 212 genome.wustl.edu 37 X 55043989 55043989 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000032.4 -1 reviewed p.K311N 1.000 329 0% 178 50% 0 - benign(0.124) deleterious(0.03) neutral(0.374) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases PAGE2 203569 genome.wustl.edu 37 X 55116502 55116502 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_207339.2 +1 provisional p.D17Y 0.004 432 0.2% 212 43.4% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_GAGE FAM104B 90736 genome.wustl.edu 37 X 55172671 55172671 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138362.3 -1 validated p.N66S 0.010 222 0.5% 102 17.6% 26 0% possibly_damaging(0.791) tolerated(1) neutral(0.296) NULL PAGE3 139793 genome.wustl.edu 37 X 55289728 55289728 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000374951 -1 known p.Y50C 0.000 392 0% 215 43.3% 0 - probably_damaging(0.982) tolerated(0.18) deleterious(0.482) HMMPfam_GAGE MAGEH1 28986 genome.wustl.edu 37 X 55478990 55478990 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014061.3 +1 reviewed p.A61 0.001 23 0% 15 46.7% 2 0% - - - NULL FOXR2 139628 genome.wustl.edu 37 X 55650538 55650538 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198451.3 +1 validated p.P132S 0.000 85 0% 38 31.6% 0 - benign(0.001) tolerated(1) - NULL SPIN2B 474343 genome.wustl.edu 37 X 57146310 57146310 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006681.1 -1 validated p.V251 1.000 345 0.3% 219 29.2% 4 100% - - - HMMPfam_Spin-Ssty SPIN2B 474343 genome.wustl.edu 37 X 57146610 57146610 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006681.1 -1 validated p.V151 1.000 377 0% 268 38.1% 9 0% - - - HMMPfam_Spin-Ssty ZXDB 158586 genome.wustl.edu 37 X 57619643 57619643 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007157.3 +1 validated p.E388K 1.000 131 0% 113 47.8% 3 0% possibly_damaging(0.616) deleterious(0.04) deleterious(0.564) superfamily_C2H2 and C2HC zinc fingers FAM123B 139285 genome.wustl.edu 37 X 63410874 63410874 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152424.3 -1 reviewed p.A765T 1.000 85 0% 43 37.2% 10 0% possibly_damaging(0.842) deleterious(0) deleterious(0.766) NULL FAM123B 139285 genome.wustl.edu 37 X 63411447 63411447 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152424.3 -1 reviewed p.R574W 0.035 35 2.9% 24 58.3% 2 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL MTMR8 55613 genome.wustl.edu 37 X 63488790 63488790 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017677.3 -1 reviewed p.T581I 0.960 146 0% 74 43.2% 0 - benign(0.068) deleterious(0.01) neutral(0.410) NULL MTMR8 55613 genome.wustl.edu 37 X 63551632 63551632 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000442913 -1 known p.W189* 1.000 75 0% 30 43.3% 3 100% possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II ZC3H12B 340554 genome.wustl.edu 37 X 64709025 64709025 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010888.3 +1 reviewed p.A104V 1.000 35 0% 27 48.1% 0 - possibly_damaging(0.565) deleterious(0.02) deleterious(0.576) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64719016 64719016 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010888.3 +1 reviewed p.V285M 1.000 204 0% 78 35.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64719856 64719856 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010888.3 +1 reviewed p.Q348 0.995 125 0.8% 61 32.8% 0 - - - - NULL ZC3H12B 340554 genome.wustl.edu 37 X 64722748 64722748 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001010888.3 +1 reviewed p.R713W 1.000 53 0% 42 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100288788 100288788 genome.wustl.edu 37 X 65177023 65177023 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343822.1 -1 model p.R6C 1.000 223 0.4% 85 49.4% 0 - - - - NULL VSIG4 11326 genome.wustl.edu 37 X 65252504 65252504 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007268.2 -1 reviewed p.A167V 0.736 217 0.5% 78 42.3% 1 0% probably_damaging(1) tolerated(0.27) deleterious(0.533) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin HEPH 9843 genome.wustl.edu 37 X 65418740 65418740 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138737.3 +1 reviewed p.F581L 0.980 335 0% 122 40.2% 2 0% possibly_damaging(0.501) tolerated(0.06) deleterious(0.490) superfamily_Cupredoxins STARD8 9754 genome.wustl.edu 37 X 67942415 67942415 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142503.2 +1 reviewed p.R909H 0.003 24 0% 21 47.6% 3 0% benign(0.02) tolerated(0.14) neutral(0.251) HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like AWAT2 158835 genome.wustl.edu 37 X 69262153 69262153 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002254.1 -1 reviewed p.R244H 0.001 103 0% 56 42.9% 0 - benign(0.004) tolerated(0.54) neutral(0.007) HMMPfam_DAGAT AWAT2 158835 genome.wustl.edu 37 X 69263463 69263463 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001002254.1 -1 reviewed p.A113S 0.046 81 0% 53 49.1% 0 - benign(0) tolerated(0.74) neutral(0.002) HMMPfam_DAGAT AWAT1 158833 genome.wustl.edu 37 X 69459730 69459730 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013579.2 +1 reviewed p.F260V 0.975 204 0% 102 37.3% 0 - probably_damaging(0.961) tolerated(0.86) neutral(0.405) HMMPfam_DAGAT ARR3 407 genome.wustl.edu 37 X 69496001 69496001 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004312.2 +1 validated p.R72Q 1.000 60 0% 58 43.1% 0 - possibly_damaging(0.939) tolerated(0.21) neutral(0.428) HMMPfam_Arrestin_N,superfamily_E set domains,PatternScan_ARRESTINS KIF4A 24137 genome.wustl.edu 37 X 69521844 69521844 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012310.4 +1 reviewed p.A204D 1.000 219 0% 84 40.5% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF4A 24137 genome.wustl.edu 37 X 69607078 69607078 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012310.4 +1 reviewed p.Q721 0.517 112 0% 45 46.7% 10 100% - - - NULL KIF4A 24137 genome.wustl.edu 37 X 69639541 69639541 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012310.4 +1 reviewed p.D1135Y 1.000 160 0% 87 54% 23 0% possibly_damaging(0.843) deleterious(0.01) deleterious(0.729) NULL DLG3 1741 genome.wustl.edu 37 X 69673551 69673551 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021120.3 +1 reviewed p.E404* 1.000 92 0% 58 39.7% 5 0% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like DLG3 1741 genome.wustl.edu 37 X 69699019 69699019 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021120.3 +1 reviewed p.S475 0.774 177 0% 78 41% 21 0% - - - superfamily_PDZ domain-like DLG3 1741 genome.wustl.edu 37 X 69719055 69719055 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021120.3 +1 reviewed p.G634S 1.000 120 0% 73 32.9% 41 2.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SH3-domain,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases TEX11 56159 genome.wustl.edu 37 X 69748986 69748986 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003811.1 -1 reviewed p.P928T 0.000 176 0% 82 45.1% 0 - benign(0) deleterious(0) neutral(0.445) NULL TEX11 56159 genome.wustl.edu 37 X 69773206 69773206 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003811.1 -1 reviewed p.K798N 0.029 446 0.4% 142 50% 0 - benign(0.152) tolerated(0.46) neutral(0.026) NULL TEX11 56159 genome.wustl.edu 37 X 69960620 69960620 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001003811.1 -1 reviewed p.T273 0.000 393 0% 138 47.1% 0 - - - - HMMPfam_SPO22,superfamily_TPR-like FOXO4 4303 genome.wustl.edu 37 X 70321229 70321229 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005938.3 +1 reviewed p.M383I 1.000 17 0% 13 30.8% 15 0% benign(0.055) deleterious(0.01) neutral(0.409) NULL CXorf65 158830 genome.wustl.edu 37 X 70323892 70323892 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001025265.2 -1 validated p.D166G 0.002 376 0% 192 46.9% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL MED12 9968 genome.wustl.edu 37 X 70340858 70340858 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005120.2 +1 reviewed p.Q197 1.000 68 0% 48 31.2% 11 0% - - - NULL MED12 9968 genome.wustl.edu 37 X 70342187 70342187 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005120.2 +1 reviewed p.F413 0.998 119 0% 89 41.6% 20 85% - - - NULL MED12 9968 genome.wustl.edu 37 X 70345927 70345927 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005120.2 +1 reviewed p.A822T 1.000 53 0% 34 11.8% 23 17.3% benign(0.12) tolerated(0.94) neutral(0.009) NULL MED12 9968 genome.wustl.edu 37 X 70346974 70346974 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005120.2 +1 reviewed p.V947 1.000 39 0% 45 40% 19 0% - - - NULL MED12 9968 genome.wustl.edu 37 X 70348204 70348204 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005120.2 +1 reviewed p.A1090T 1.000 129 0% 92 44.6% 17 0% possibly_damaging(0.838) tolerated(0.22) neutral(0.362) NULL MED12 9968 genome.wustl.edu 37 X 70349037 70349037 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005120.2 +1 reviewed p.P1183 1.000 90 0% 50 40% 28 0% - - - NULL MED12 9968 genome.wustl.edu 37 X 70349538 70349538 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005120.2 +1 reviewed p.E1234K 1.000 64 0% 44 13.6% 24 33.3% benign(0.012) tolerated(0.75) neutral(0.002) NULL MED12 9968 genome.wustl.edu 37 X 70351409 70351409 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005120.2 +1 reviewed p.Q1353K 1.000 81 0% 72 38.9% 40 0% benign(0.384) deleterious(0.01) deleterious(0.528) NULL MED12 9968 genome.wustl.edu 37 X 70357482 70357482 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000444034 +1 known p.P162H 1.000 127 0% 96 45.8% 47 2.1% - - - NULL NLGN3 54413 genome.wustl.edu 37 X 70367880 70367880 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018977.3 +1 reviewed p.S94L 0.999 10 0% 22 54.5% 3 0% benign(0.327) tolerated(0.1) neutral(0.389) HMMPfam_COesterase,superfamily_SSF53474 NLGN3 54413 genome.wustl.edu 37 X 70367959 70367959 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018977.3 +1 reviewed p.P120 0.919 18 0% 34 44.1% 2 0% - - - HMMPfam_COesterase,superfamily_SSF53474 NLGN3 54413 genome.wustl.edu 37 X 70387059 70387059 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018977.3 +1 reviewed p.H351R 1.000 51 0% 38 18.4% 0 - benign(0.014) tolerated(0.08) neutral(0.300) HMMPfam_COesterase,superfamily_SSF53474 NLGN3 54413 genome.wustl.edu 37 X 70389298 70389298 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018977.3 +1 reviewed p.N613S 1.000 68 0% 57 28.1% 2 0% benign(0.006) tolerated(0.26) neutral(0.034) superfamily_SSF53474 NLGN3 54413 genome.wustl.edu 37 X 70389892 70389892 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018977.3 +1 reviewed p.A811V 1.000 51 0% 22 18.2% 4 0% benign(0.022) tolerated(0.24) neutral(0.038) NULL GJB1 2705 genome.wustl.edu 37 X 70443856 70443856 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000166.5 +1 reviewed p.H100R 1.000 73 0% 74 45.9% 15 0% benign(0.103) tolerated(0.51) neutral(0.017) HMMPfam_Connexin ZMYM3 9203 genome.wustl.edu 37 X 70461170 70461170 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005096.3 -1 reviewed p.R1276I 1.000 177 0% 121 43% 27 100% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL ZMYM3 9203 genome.wustl.edu 37 X 70467746 70467746 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005096.3 -1 reviewed p.L662 1.000 49 0% 38 23.7% 22 90.9% - - - HMMPfam_zf-FCS,HMMSmart_SM00746 NONO 4841 genome.wustl.edu 37 X 70514185 70514185 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145408.1 +1 reviewed p.R153* 0.882 134 0% 94 44.7% 34 55.8% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NONO 4841 genome.wustl.edu 37 X 70517747 70517747 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145408.1 +1 reviewed p.R364W 1.000 24 4.2% 22 59.1% 47 53.1% unknown(0) deleterious(0) - NULL ITGB1BP2 26548 genome.wustl.edu 37 X 70522357 70522357 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012278.1 +1 provisional p.L90M 1.000 101 0% 67 40.3% 0 - benign(0.28) tolerated(0.24) neutral(0.123) NULL ITGB1BP2 26548 genome.wustl.edu 37 X 70524820 70524820 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012278.1 +1 provisional p.I274M 1.000 75 0% 50 50% 2 0% benign(0.276) deleterious(0) deleterious(0.474) superfamily_HSP20_chap,HMMPfam_CS TAF1 6872 genome.wustl.edu 37 X 70596822 70596822 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004606.3 +1 reviewed p.I185 1.000 106 0% 55 54.5% 2 0% - - - NULL TAF1 6872 genome.wustl.edu 37 X 70608170 70608170 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004606.3 +1 reviewed p.S857 0.551 128 0% 75 37.3% 2 0% - - - NULL TAF1 6872 genome.wustl.edu 37 X 70678092 70678092 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004606.3 +1 reviewed p.P1667H 1.000 327 0% 186 51.6% 13 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ACRC 93953 genome.wustl.edu 37 X 70830565 70830565 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_052957.4 +1 validated p.K549R 1.000 89 0% 74 43.2% 1 0% benign(0.107) tolerated(0.6) neutral(0.013) HMMSmart_SM00731,HMMPfam_SprT-like RGAG4 340526 genome.wustl.edu 37 X 71350530 71350530 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024455.3 -1 validated p.E287 0.996 64 0% 69 39.1% 7 0% - - - NULL NHSL2 340527 genome.wustl.edu 37 X 71360404 71360404 + Silent SNP T T A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013627.2 +1 provisional p.P636 0.991 66 0% 45 17.8% 0 - - - - NULL PIN4 5303 genome.wustl.edu 37 X 71406383 71406383 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006223.3 +1 reviewed p.K64R 1.000 152 0% 92 26.1% 49 12.2% probably_damaging(0.985) tolerated(0.05) deleterious(0.777) superfamily_SSF54534 ERCC6L 54821 genome.wustl.edu 37 X 71425309 71425309 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017669.2 -1 validated p.V1103A 0.997 142 0% 58 55.2% 5 100% benign(0.209) deleterious(0) neutral(0.465) NULL ERCC6L 54821 genome.wustl.edu 37 X 71425838 71425838 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017669.2 -1 validated p.A927T 0.000 80 0% 40 52.5% 13 100% benign(0.01) deleterious(0) neutral(0.445) NULL ERCC6L 54821 genome.wustl.edu 37 X 71427103 71427103 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017669.2 -1 validated p.R505Q 0.989 240 0% 66 42.4% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 RPS4X 6191 genome.wustl.edu 37 X 71493733 71493733 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001007.4 -1 reviewed p.P150 0.913 110 0% 69 47.8% 2774 30.3% - - - HMMPfam_Ribosomal_S4e PHKA1 5255 genome.wustl.edu 37 X 71846847 71846847 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002637.3 -1 reviewed p.M589I 1.000 476 0% 243 47.3% 3 100% benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_PHK_AB PHKA1 5255 genome.wustl.edu 37 X 71870282 71870282 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002637.3 -1 reviewed p.R428C 1.000 228 0% 108 38.9% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases NAP1L2 4674 genome.wustl.edu 37 X 72433246 72433246 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021963.2 -1 reviewed p.V361 1.000 116 0% 65 49.2% 1 100% - - - HMMPfam_NAP NAP1L2 4674 genome.wustl.edu 37 X 72434021 72434021 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021963.2 -1 reviewed p.S103N 1.000 310 0% 195 45.1% 4 100% probably_damaging(0.978) tolerated(0.08) deleterious(0.720) NULL BMP2KL 347359 genome.wustl.edu 37 X 73406623 73406623 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000373488 +1 known p.D290A 1.000 17 0% 13 46.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BMP2KL 347359 genome.wustl.edu 37 X 73406946 73406946 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000373488 +1 known p.E398K 0.822 73 0% 47 53.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RLIM 51132 genome.wustl.edu 37 X 73811327 73811327 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016120.3 -1 reviewed p.P608H 1.000 147 0% 65 40% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box KIAA2022 340533 genome.wustl.edu 37 X 73960045 73960045 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000424929 -1 known p.S51P 1.000 325 0% 123 47.2% 2 0% - - - NULL KIAA2022 340533 genome.wustl.edu 37 X 73960933 73960933 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008537.2 -1 validated p.N1153 0.972 257 0% 93 44.1% 0 - - - - NULL KIAA2022 340533 genome.wustl.edu 37 X 73961338 73961338 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008537.2 -1 validated p.G1018 0.995 120 0% 49 42.9% 1 100% - - - NULL KIAA2022 340533 genome.wustl.edu 37 X 73963734 73963734 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008537.2 -1 validated p.T220A 0.999 262 0% 93 40.9% 0 - benign(0) tolerated(0.8) neutral(0.001) NULL ZDHHC15 158866 genome.wustl.edu 37 X 74698795 74698795 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144969.2 -1 reviewed p.A63 1.000 277 0% 127 40.9% 0 - - - - NULL ZDHHC15 158866 genome.wustl.edu 37 X 74742852 74742852 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144969.2 -1 reviewed p.R3Q 0.995 20 0% 15 53.3% 0 - probably_damaging(0.953) tolerated(0.12) deleterious(0.657) NULL MAGEE2 139599 genome.wustl.edu 37 X 75004747 75004747 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138703.4 -1 validated p.P47H 0.000 20 0% 25 72% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL CXorf26 51260 genome.wustl.edu 37 X 75397503 75397503 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000373357 +1 known p.I117T 0.999 268 0% 143 37.1% 30 0% possibly_damaging(0.767) - - NULL ATRX 546 genome.wustl.edu 37 X 76849266 76849266 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000489.3 -1 reviewed p.D2004Y 1.000 219 0% 71 46.5% 9 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76872161 76872161 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000400866 -1 known p.Q118* 1.000 446 0% 150 39.3% 11 0% probably_damaging(0.987) deleterious(0.03) deleterious(0.801) HMMPfam_SNF2_N ATRX 546 genome.wustl.edu 37 X 76909629 76909629 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000489.3 -1 reviewed p.R1426* 0.959 785 0% 289 32.9% 10 0% - - - NULL PGAM4 441531 genome.wustl.edu 37 X 77224704 77224704 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001029891.2 -1 reviewed p.D144 1.000 55 0% 49 28.6% 50 0% - - - HMMPfam_PGAM,superfamily_SSF53254 ATP7A 538 genome.wustl.edu 37 X 77301869 77301869 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000052.4 +1 reviewed p.S1435 0.993 170 0% 49 63.3% 3 66.6% - - - NULL PGK1 5230 genome.wustl.edu 37 X 77369532 77369532 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000291.3 +1 reviewed p.D98N 1.000 101 0% 56 44.6% 385 95.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_PGK,superfamily_Phosphoglycerate kinase TAF9B 51616 genome.wustl.edu 37 X 77392459 77392459 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015975.4 -1 reviewed p.R145Q 1.000 260 0% 144 39.6% 18 0% probably_damaging(0.966) tolerated(0.23) neutral(0.449) NULL TAF9B 51616 genome.wustl.edu 37 X 77393326 77393326 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015975.4 -1 reviewed p.P109S 1.000 355 0% 217 42.9% 18 94.4% benign(0.078) deleterious(0.02) neutral(0.389) HMMPfam_TFIID-31kDa TAF9B 51616 genome.wustl.edu 37 X 77394388 77394388 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_015975.4 -1 reviewed p.T29A 1.000 404 0% 215 49.8% 21 0% possibly_damaging(0.947) tolerated(0.07) deleterious(0.710) HMMPfam_TFIID-31kDa,superfamily_Histone-fold ZCCHC5 203430 genome.wustl.edu 37 X 77913179 77913179 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152694.2 -1 reviewed p.D247N 0.000 47 0% 30 56.7% 0 - possibly_damaging(0.543) tolerated(0.24) neutral(0.222) NULL P2RY10 27334 genome.wustl.edu 37 X 78216409 78216409 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014499.2 +1 reviewed p.R131M 1.000 168 0% 40 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 ITM2A 9452 genome.wustl.edu 37 X 78616662 78616662 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004867.4 -1 reviewed p.R239H 1.000 173 0% 54 35.2% 117 97.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITM2A 9452 genome.wustl.edu 37 X 78618553 78618553 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004867.4 -1 reviewed p.L109 0.170 133 0% 71 42.3% 174 0% - - - NULL TBX22 50945 genome.wustl.edu 37 X 79281214 79281214 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001109878.1 +1 reviewed p.R191W 1.000 62 0% 36 52.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2 TBX22 50945 genome.wustl.edu 37 X 79282777 79282777 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001109878.1 +1 reviewed p.R274I 1.000 191 0% 66 43.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd FAM46D 169966 genome.wustl.edu 37 X 79698043 79698043 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152630.4 +1 validated p.S2Y 1.000 138 0% 38 36.8% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL BRWD3 254065 genome.wustl.edu 37 X 79942391 79942391 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153252.4 -1 reviewed p.R1326* 1.000 410 0% 108 41.7% 5 40% - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain BRWD3 254065 genome.wustl.edu 37 X 79945290 79945290 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153252.4 -1 reviewed p.R1262* 0.456 513 0.2% 157 46.5% 6 100% - - - superfamily_Bromodomain BRWD3 254065 genome.wustl.edu 37 X 79984300 79984300 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153252.4 -1 reviewed p.L446P 1.000 158 0% 55 41.8% 6 0% probably_damaging(0.986) tolerated(0.21) deleterious(0.478) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1 BRWD3 254065 genome.wustl.edu 37 X 79984339 79984339 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153252.4 -1 reviewed p.R433H 1.000 154 0% 66 40.9% 8 75% probably_damaging(1) tolerated(0.37) deleterious(0.519) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase HMGN5 79366 genome.wustl.edu 37 X 80370324 80370324 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_030763.2 -1 reviewed p.D225Y 0.101 1608 0% 836 40% 19 89.4% unknown(0) tolerated(0.05) - NULL SH3BGRL 6451 genome.wustl.edu 37 X 80532664 80532664 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003022.2 +1 validated p.R76H 1.000 126 0% 53 50.9% 71 0% possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_SH3BGR,superfamily_Thioredoxin-like CYLC1 1538 genome.wustl.edu 37 X 83129600 83129600 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021118.1 +1 provisional p.K628N 0.006 147 0% 25 52% 0 - unknown(0) tolerated(0.07) - NULL RPS6KA6 27330 genome.wustl.edu 37 X 83359617 83359617 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014496.4 -1 reviewed p.G502* 1.000 319 0% 132 44.7% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HDX 139324 genome.wustl.edu 37 X 83599435 83599435 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144657.4 -1 validated p.R495C 1.000 190 0% 39 25.6% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SATL1 340562 genome.wustl.edu 37 X 84363393 84363393 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012980.2 -1 validated p.W7* 0.000 241 0% 169 48.5% 0 - - - - NULL ZNF711 7552 genome.wustl.edu 37 X 84510294 84510294 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021998.4 +1 reviewed p.D37N 1.000 209 0% 118 42.4% 4 100% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL ZNF711 7552 genome.wustl.edu 37 X 84526417 84526417 + Silent SNP C C G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021998.4 +1 reviewed p.V623 0.886 97 0% 19 52.6% 10 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers POF1B 79983 genome.wustl.edu 37 X 84634238 84634238 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024921.3 -1 reviewed p.V74 0.947 167 0% 117 39.3% 0 - - - - NULL CHM 1121 genome.wustl.edu 37 X 85166298 85166298 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000390.2 -1 reviewed p.V404 0.884 237 0% 74 36.5% 5 0% - - - HMMPfam_GDI,superfamily_SSF51905 DACH2 117154 genome.wustl.edu 37 X 85403714 85403714 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_053281.3 +1 reviewed p.S30 0.943 39 0% 27 44.4% 0 - - - - NULL KLHL4 56062 genome.wustl.edu 37 X 86890615 86890615 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_057162.2 +1 reviewed p.Y589H 0.998 202 0% 108 38% 0 - benign(0.296) tolerated(0.53) neutral(0.099) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain PCDH11X 27328 genome.wustl.edu 37 X 91090552 91090552 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032968.3 +1 reviewed p.V17M 0.624 137 0% 77 51.9% 5 100% possibly_damaging(0.658) deleterious(0.05) deleterious(0.578) NULL PCDH11X 27328 genome.wustl.edu 37 X 91132557 91132557 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032968.3 +1 reviewed p.D440Y 1.000 133 0% 93 39.8% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH11X 27328 genome.wustl.edu 37 X 91133981 91133981 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032968.3 +1 reviewed p.Q914H 1.000 271 0% 145 41.4% 2 100% benign(0.023) deleterious(0.01) neutral(0.407) HMMPfam_Protocadherin PCDH11X 27328 genome.wustl.edu 37 X 91873470 91873470 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_032968.3 +1 reviewed p.T1192I 0.543 124 0% 72 30.6% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL FAM133A 286499 genome.wustl.edu 37 X 92965163 92965163 + Nonstop_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173698.2 +1 validated p.*249Q 0.007 12 0.000 7 0.571 0 - - - - NULL DIAPH2 1730 genome.wustl.edu 37 X 95940138 95940138 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006729.4 +1 reviewed p.S27 0.020 8 0.000 16 0.375 4 0% - - - NULL DIAPH2 1730 genome.wustl.edu 37 X 95993592 95993592 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006729.4 +1 reviewed p.R58Q 1.000 170 0% 48 54.2% 0 - unknown(0) deleterious(0.01) - NULL RPA4 29935 genome.wustl.edu 37 X 96139333 96139333 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_013347.4 +1 reviewed p.S8 0.000 99 0% 43 41.9% 1 0% - - - NULL DIAPH2 1730 genome.wustl.edu 37 X 96197087 96197087 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006729.4 +1 reviewed p.D466Y 1.000 225 0% 103 16.5% 2 100% unknown(0) deleterious(0) - HMMPfam_Drf_FH3 DIAPH2 1730 genome.wustl.edu 37 X 96213044 96213044 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006729.4 +1 reviewed p.G611E 0.636 141 0% 86 54.7% 3 100% unknown(0) tolerated(0.3) - superfamily_Formin homology 2 domain (FH2 domain) DIAPH2 1730 genome.wustl.edu 37 X 96603183 96603183 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006729.4 +1 reviewed p.L971 0.996 260 0% 95 38.9% 6 0% - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) PCDH19 57526 genome.wustl.edu 37 X 99657681 99657681 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105243.1 -1 reviewed p.Q772H 1.000 130 0% 118 42.4% 21 100% probably_damaging(0.967) tolerated(0.4) neutral(0.425) NULL PCDH19 57526 genome.wustl.edu 37 X 99662008 99662008 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001105243.1 -1 reviewed p.E530K 1.000 37 0% 37 45.9% 42 100% probably_damaging(0.973) deleterious(0.05) deleterious(0.760) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TNMD 64102 genome.wustl.edu 37 X 99854665 99854665 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022144.2 +1 reviewed p.V302A 1.000 59 0% 42 57.1% 0 - possibly_damaging(0.465) deleterious(0) deleterious(0.598) NULL SRPX2 27286 genome.wustl.edu 37 X 99905837 99905837 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014467.2 +1 reviewed p.P46 0.681 262 0% 118 44.1% 0 - - - - NULL SRPX2 27286 genome.wustl.edu 37 X 99922277 99922277 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014467.2 +1 reviewed p.K323T 1.000 183 0% 93 31.2% 0 - benign(0.031) tolerated(0.35) neutral(0.022) NULL SYTL4 94121 genome.wustl.edu 37 X 99936234 99936234 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001129896.2 -1 reviewed p.D516 1.000 133 0% 56 33.9% 6 0% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYTL4 94121 genome.wustl.edu 37 X 99956565 99956565 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001129896.2 -1 reviewed p.R72H 0.471 49 0% 42 35.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger SYTL4 94121 genome.wustl.edu 37 X 99957105 99957105 + Splice_Site SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001129896.2 -1 reviewed e1-2 0.966 69 0% 52 15.4% 0 - - - - - CSTF2 1478 genome.wustl.edu 37 X 100087826 100087826 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001325.2 +1 reviewed p.E379K 0.999 36 0% 27 44.4% 10 0% possibly_damaging(0.46) deleterious(0.01) deleterious(0.556) NULL NOX1 27035 genome.wustl.edu 37 X 100106314 100106314 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007052.4 -1 reviewed p.S269P 1.000 105 0% 55 43.6% 0 - possibly_damaging(0.803) deleterious(0) deleterious(0.747) NULL NOX1 27035 genome.wustl.edu 37 X 100117188 100117188 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007052.4 -1 reviewed p.R259H 0.000 116 0% 77 35.1% 0 - benign(0.002) tolerated(0.13) neutral(0.253) NULL TRMT2B 79979 genome.wustl.edu 37 X 100276156 100276156 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024917.5 -1 reviewed p.R334W 0.003 112 0% 56 50% 5 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_S-adenosyl-L-methionine-dependent methyltransferases CENPI 2491 genome.wustl.edu 37 X 100400145 100400145 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006733.2 +1 reviewed p.N553S 0.431 346 0% 150 41.3% 0 - benign(0) tolerated(0.65) neutral(0.003) NULL TAF7L 54457 genome.wustl.edu 37 X 100531365 100531365 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024885.3 -1 reviewed p.L367 0.825 484 0% 265 39.2% 1 0% - - - NULL BTK 695 genome.wustl.edu 37 X 100617556 100617556 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000061.2 -1 reviewed p.R171S 1.000 135 0% 77 48.1% 2 0% unknown(0) tolerated(0.42) - HMMPfam_BTK,HMMSmart_BTK GLA 2717 genome.wustl.edu 37 X 100653431 100653431 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000169.2 -1 reviewed p.A309V 0.188 162 0% 85 32.9% 69 0% benign(0.349) tolerated(0.27) neutral(0.144) superfamily_(Trans)glycosidases GLA 2717 genome.wustl.edu 37 X 100662732 100662732 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000169.2 -1 reviewed p.L54I 0.274 67 0% 38 57.9% 33 90.9% benign(0) tolerated(1) - superfamily_(Trans)glycosidases LOC653354 653354 genome.wustl.edu 37 X 100852704 100852704 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_001717888.2 +1 model p.A86 0.000 110 0% 81 28.4% 24 0% - - - HMMPfam_DUF634 GPRASP1 9737 genome.wustl.edu 37 X 101909731 101909731 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099410.1 +1 reviewed p.S297Y 0.990 135 0% 72 43.1% 1 0% possibly_damaging(0.947) deleterious(0.01) deleterious(0.796) NULL GPRASP1 9737 genome.wustl.edu 37 X 101910539 101910539 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099410.1 +1 reviewed p.I566 0.000 60 3.3% 42 38.1% 0 - - - - NULL BHLHB9 80823 genome.wustl.edu 37 X 102004250 102004250 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001142524.1 +1 validated p.A109 0.004 61 0% 47 12.8% 3 0% - - - NULL RAB40AL 282808 genome.wustl.edu 37 X 102192977 102192977 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031834.1 +1 reviewed p.T244I 0.981 173 0% 153 35.9% 1 0% benign(0) tolerated(0.07) neutral(0.319) NULL BEX1 55859 genome.wustl.edu 37 X 102317997 102317997 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018476.3 -1 validated p.R69M 0.482 230 0% 186 44.1% 8 100% possibly_damaging(0.659) deleterious(0.01) deleterious(0.638) HMMPfam_BEX NXF3 56000 genome.wustl.edu 37 X 102335123 102335123 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022052.1 -1 reviewed p.A317T 0.000 122 0% 74 40.5% 0 - benign(0.005) tolerated(0.06) neutral(0.323) NULL BEX4 56271 genome.wustl.edu 37 X 102471242 102471242 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080425.2 +1 validated p.R54Q 0.000 69 0% 52 51.9% 35 94.2% probably_damaging(0.954) tolerated(0.39) neutral(0.414) HMMPfam_BEX TCEAL8 90843 genome.wustl.edu 37 X 102508568 102508568 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006684.1 -1 reviewed p.C114R 1.000 325 0% 168 46.4% 39 94.8% possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL TCEAL8 90843 genome.wustl.edu 37 X 102508857 102508857 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001006684.1 -1 reviewed p.K17N 0.947 280 0% 178 40.4% 60 91.6% benign(0.261) deleterious(0) deleterious(0.472) HMMPfam_TFA TCEAL5 340543 genome.wustl.edu 37 X 102528912 102528912 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012979.2 -1 validated p.G194C 0.014 285 0% 227 50.7% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL TCEAL5 340543 genome.wustl.edu 37 X 102529416 102529416 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001012979.2 -1 validated p.D26N 0.021 463 0% 293 39.9% 0 - possibly_damaging(0.54) tolerated(0.25) neutral(0.220) HMMPfam_TFA RAB40A 142684 genome.wustl.edu 37 X 102755390 102755390 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080879.2 -1 reviewed p.R99C 1.000 119 0% 122 38.5% 0 - benign(0.068) deleterious(0) neutral(0.449) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 ENSG00000245920 0 genome.wustl.edu 37 X 102931087 102931087 + RNA SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000501276 +1 known NULL 1.000 84 0% 48 43.8% 142 94.3% - - - - GLRA4 441509 genome.wustl.edu 37 X 102979163 102979163 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001024452.2 -1 validated p.P113T 1.000 80 0% 67 28.4% 0 - benign(0.024) tolerated(0.27) neutral(0.035) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like TMSB15B 286527 genome.wustl.edu 37 X 103219128 103219128 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194324.2 +1 validated p.E11D 1.000 610 0% 280 39.6% 7 0% - - - HMMPfam_Thymosin,HMMSmart_SM00152 ZCCHC18 644353 genome.wustl.edu 37 X 103358878 103358878 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001143978.1 +1 provisional p.L26 0.013 112 0% 59 47.5% 0 - - - - NULL IL1RAPL2 26280 genome.wustl.edu 37 X 104440223 104440223 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017416.1 +1 reviewed p.R50Q 1.000 200 0% 98 59.2% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_SM00409,superfamily_Immunoglobulin NRK 203447 genome.wustl.edu 37 X 105153847 105153847 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198465.2 +1 validated p.H738 0.679 50 0% 16 62.5% 0 - - - - superfamily_p53-like transcription factors NRK 203447 genome.wustl.edu 37 X 105179182 105179182 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198465.2 +1 validated p.V1174L 0.044 464 0% 198 49% 0 - benign(0.055) tolerated(0.51) neutral(0.012) NULL NRK 203447 genome.wustl.edu 37 X 105179243 105179243 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198465.2 +1 validated p.P1194H 0.000 645 0% 266 36.8% 0 - benign(0.293) deleterious(0) deleterious(0.535) NULL CXorf57 55086 genome.wustl.edu 37 X 105855315 105855315 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018015.5 +1 validated p.S2Y 0.758 11 0% 11 63.6% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CXorf57 55086 genome.wustl.edu 37 X 105855550 105855550 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018015.5 +1 validated p.E80D 0.883 37 0% 31 32.3% 0 - possibly_damaging(0.942) tolerated(0.61) neutral(0.391) NULL CXorf57 55086 genome.wustl.edu 37 X 105879861 105879861 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018015.5 +1 validated p.S464R 0.020 387 0% 186 38.2% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL CXorf57 55086 genome.wustl.edu 37 X 105881006 105881006 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018015.5 +1 validated p.P475 0.057 157 0% 92 43.5% 0 - - - - NULL RNF128 79589 genome.wustl.edu 37 X 105937374 105937374 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024539.3 +1 reviewed p.T48A 0.012 261 0% 88 34.1% 0 - benign(0) tolerated(0.58) neutral(0.005) superfamily_SSF52025 TBC1D8B 54885 genome.wustl.edu 37 X 106070528 106070528 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017752.2 +1 validated p.C388 0.877 106 0.9% 26 38.5% 3 100% - - - NULL MORC4 79710 genome.wustl.edu 37 X 106198295 106198295 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024657.4 -1 reviewed p.I511 0.037 501 0% 177 41.8% 10 0% - - - NULL MORC4 79710 genome.wustl.edu 37 X 106228330 106228330 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024657.4 -1 reviewed p.R224C 1.000 136 0% 62 50% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ATP_bd_ATPase RBM41 55285 genome.wustl.edu 37 X 106310806 106310806 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018301.3 -1 validated p.S398Y 0.049 515 0% 208 53.8% 1 100% benign(0.09) deleterious(0.03) neutral(0.371) NULL NUP62CL 54830 genome.wustl.edu 37 X 106396717 106396717 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000432145 -1 known p.W52* 0.345 326 0% 146 41.1% 2 0% benign(0.084) tolerated(1) neutral(0.006) HMMPfam_Nsp1_C FRMPD3 84443 genome.wustl.edu 37 X 106844485 106844485 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_042978.6 +1 model p.S1105 0.013 91 0% 24 16.7% 0 - - - - NULL PRPS1 5631 genome.wustl.edu 37 X 106882703 106882703 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002764.3 +1 reviewed p.D101Y 1.000 148 0% 120 40.8% 27 0% possibly_damaging(0.47) deleterious(0.01) deleterious(0.560) superfamily_PRTase-like TSC22D3 1831 genome.wustl.edu 37 X 106959998 106959998 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004089.3 -1 reviewed p.Y15C 1.000 54 0% 50 34% 11 81.8% benign(0.009) tolerated(0.16) neutral(0.060) NULL TSC22D3 1831 genome.wustl.edu 37 X 107018548 107018548 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_198057.2 -1 reviewed p.S34 0.123 23 0% 31 48.4% 1 0% - - - NULL MID2 11043 genome.wustl.edu 37 X 107148759 107148759 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012216.3 +1 reviewed p.L326I 1.000 156 0% 59 33.9% 3 0% possibly_damaging(0.942) tolerated(0.62) neutral(0.391) HMMSmart_SM00502 TEX13B 56156 genome.wustl.edu 37 X 107224435 107224435 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031273.2 -1 reviewed p.L272F 0.939 101 0% 77 36.4% 0 - unknown(0) deleterious(0) - NULL COL4A6 1288 genome.wustl.edu 37 X 107412770 107412770 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001847.2 -1 reviewed p.G1217R 0.619 28 0% 22 36.4% 2 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Collagen ENSG00000189372 0 genome.wustl.edu 37 X 107626994 107626994 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000453808 +1 known p.V83A 0.017 88 0% 24 20.8% 0 - benign(0.181) tolerated(0.55) neutral(0.024) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) COL4A5 1287 genome.wustl.edu 37 X 107838758 107838758 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033380.1 +1 reviewed p.C481* 1.000 112 0% 49 53.1% 7 0% - - - NULL COL4A5 1287 genome.wustl.edu 37 X 107866026 107866026 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033380.1 +1 reviewed p.K963T 1.000 69 0% 29 24.1% 12 0% possibly_damaging(0.763) tolerated(0.1) deleterious(0.569) NULL IRS4 8471 genome.wustl.edu 37 X 107975811 107975811 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003604.2 -1 reviewed p.R1255I 0.996 172 0% 101 51.5% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL IRS4 8471 genome.wustl.edu 37 X 107976972 107976972 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003604.2 -1 reviewed p.G868E 0.006 248 0% 151 47% 1 100% benign(0.366) tolerated(0.25) neutral(0.153) NULL IRS4 8471 genome.wustl.edu 37 X 107978705 107978705 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003604.2 -1 reviewed p.Q290 1.000 24 0% 26 53.8% 0 - - - - HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 GUCY2F 2986 genome.wustl.edu 37 X 108625435 108625435 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001522.2 -1 reviewed p.R1021H 1.000 164 0% 34 55.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain GUCY2F 2986 genome.wustl.edu 37 X 108652341 108652341 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001522.2 -1 reviewed p.S616 0.712 249 0% 96 47.9% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) NXT2 55916 genome.wustl.edu 37 X 108784716 108784716 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018698.3 +1 provisional p.L94 1.000 360 0% 157 36.9% 6 0% - - - HMMPfam_NTF2,superfamily_SSF54427 ACSL4 2182 genome.wustl.edu 37 X 108912313 108912313 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000514500 -1 known p.I9T 1.000 511 0% 278 45.7% 7 0% - - - NULL ACSL4 2182 genome.wustl.edu 37 X 108921509 108921509 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022977.2 -1 reviewed p.R305I 0.998 118 0% 60 40% 8 50% probably_damaging(0.999) tolerated(0.42) deleterious(0.504) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSL4 2182 genome.wustl.edu 37 X 108926520 108926520 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022977.2 -1 reviewed p.D66N 1.000 433 0% 164 47% 5 60% benign(0.02) tolerated(0.21) neutral(0.045) NULL RGAG1 57529 genome.wustl.edu 37 X 109694307 109694307 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020769.2 +1 validated p.T154 0.397 44 2.3% 34 58.8% 0 - - - - NULL RGAG1 57529 genome.wustl.edu 37 X 109695632 109695632 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020769.2 +1 validated p.T596I 0.189 51 0% 35 31.4% 0 - possibly_damaging(0.663) tolerated(0.16) neutral(0.294) NULL PAK3 5063 genome.wustl.edu 37 X 110406904 110406904 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001128168.1 +1 reviewed p.R275W 1.000 357 0.6% 115 42.6% 1 100% possibly_damaging(0.95) deleterious(0) deleterious(0.838) NULL CAPN6 827 genome.wustl.edu 37 X 110494311 110494311 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014289.3 -1 reviewed p.C331Y 1.000 118 0% 78 11.5% 79 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 DCX 1641 genome.wustl.edu 37 X 110653577 110653577 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000555.2 -1 reviewed p.N98S 1.000 78 0% 46 39.1% 0 - benign(0.002) tolerated(0.69) neutral(0.002) NULL DCX 1641 genome.wustl.edu 37 X 110654011 110654011 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000358070 -1 known p.R56Q 0.997 222 0% 82 34.1% 0 - - - - NULL ALG13 79868 genome.wustl.edu 37 X 110956461 110956461 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000394780 +1 known p.F314S 1.000 905 0% 356 37.6% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_OTU,superfamily_SSF54001 TRPC5 7224 genome.wustl.edu 37 X 111019924 111019924 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012471.2 -1 reviewed p.L847F 1.000 143 0% 48 41.7% 0 - benign(0.18) deleterious(0.01) neutral(0.422) NULL TRPC5 7224 genome.wustl.edu 37 X 111025182 111025182 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012471.2 -1 reviewed p.R694H 0.423 162 0% 85 41.2% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL TRPC5 7224 genome.wustl.edu 37 X 111090573 111090573 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012471.2 -1 reviewed p.S490L 1.000 113 0% 51 29.4% 0 - probably_damaging(0.989) tolerated(0.32) neutral(0.464) HMMPfam_Ion_trans ZCCHC16 340595 genome.wustl.edu 37 X 111698678 111698678 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004308.2 +1 validated p.H241R 0.001 66 0% 41 24.4% 0 - possibly_damaging(0.846) tolerated(0.36) neutral(0.345) NULL AMOT 154796 genome.wustl.edu 37 X 112058929 112058929 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113490.1 -1 reviewed p.P350L 0.954 56 0% 38 39.5% 4 0% benign(0.305) tolerated(1) neutral(0.095) NULL AMOT 154796 genome.wustl.edu 37 X 112065919 112065919 + Missense_Mutation SNP G G A rs180687453 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113490.1 -1 reviewed p.R146C 0.999 97 0% 35 57.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AMOT 154796 genome.wustl.edu 37 X 112066060 112066060 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001113490.1 -1 reviewed p.R99* 0.031 41 0% 19 47.4% 2 0% - - - NULL LOC286528 286528 genome.wustl.edu 37 X 113625336 113625336 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_210501.3 +1 model p.T70 0.221 34 0% 26 38.5% 0 - - - - HMMPfam_Ssu72 LRCH2 57631 genome.wustl.edu 37 X 114357648 114357648 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020871.3 -1 validated p.R653C 1.000 318 0% 134 41.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology PLS3 5358 genome.wustl.edu 37 X 114877646 114877646 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001136025.3 +1 reviewed p.A337S 1.000 143 0% 72 16.7% 85 52.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain SLC6A14 11254 genome.wustl.edu 37 X 115586189 115586189 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007231.3 +1 reviewed p.W484L 1.000 518 0% 200 42% 6 100% benign(0.078) tolerated(0.18) neutral(0.061) HMMPfam_SNF LOC653155 653155 genome.wustl.edu 37 X 115882506 115882506 + Missense_Mutation SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_926254.3 -1 model p.K110Q 1.000 104 0% 25 44% 0 - - - - NULL KLHL13 90293 genome.wustl.edu 37 X 117044002 117044002 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_033495.3 -1 reviewed p.E210K 1.000 62 0% 24 41.7% 6 100% benign(0.041) tolerated(0.4) neutral(0.018) HMMPfam_BACK WDR44 54521 genome.wustl.edu 37 X 117521351 117521351 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_019045.4 +1 reviewed p.E54* 1.000 455 0.2% 150 31.3% 2 0% - - - NULL WDR44 54521 genome.wustl.edu 37 X 117577606 117577606 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000371848 +1 known p.Y722* 1.000 475 0% 212 41% 8 0% probably_damaging(0.99) tolerated(0.12) deleterious(0.702) superfamily_WD40 repeat-like DOCK11 139818 genome.wustl.edu 37 X 117702123 117702123 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144658.3 +1 validated p.Q345K 1.000 406 0% 119 33.6% 1 0% benign(0.004) tolerated(0.52) neutral(0.009) NULL DOCK11 139818 genome.wustl.edu 37 X 117732000 117732000 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144658.3 +1 validated p.N798S 0.244 341 0% 92 50% 2 0% benign(0) deleterious(0.04) neutral(0.349) NULL DOCK11 139818 genome.wustl.edu 37 X 117772073 117772073 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144658.3 +1 validated p.G1328 0.948 764 0% 271 40.6% 2 0% - - - NULL DOCK11 139818 genome.wustl.edu 37 X 117773528 117773528 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144658.3 +1 validated p.T1378A 1.000 52 0% 33 51.5% 1 100% benign(0.218) tolerated(0.06) neutral(0.344) NULL IL13RA1 3597 genome.wustl.edu 37 X 117875096 117875096 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001560.2 +1 reviewed p.H69N 0.514 222 0% 83 37.3% 9 0% possibly_damaging(0.658) tolerated(0.21) neutral(0.277) NULL IL13RA1 3597 genome.wustl.edu 37 X 117895151 117895151 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001560.2 +1 reviewed p.L243I 0.003 371 0% 169 46.2% 18 83.3% possibly_damaging(0.606) tolerated(0.22) neutral(0.252) superfamily_Fibronectin type III LONRF3 79836 genome.wustl.edu 37 X 118145877 118145877 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000439603 +1 known p.*350Q 0.486 270 0% 133 42.1% 8 0% - - - HMMPfam_LON,HMMSmart_SM00464 LONRF3 79836 genome.wustl.edu 37 X 118148308 118148308 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001031855.1 +1 reviewed p.A705T 0.692 254 0% 120 46.7% 15 100% benign(0.045) tolerated(0.5) neutral(0.013) HMMPfam_LON,HMMSmart_SM00464 KIAA1210 57481 genome.wustl.edu 37 X 118221535 118221535 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020721.1 -1 validated p.L1220M 0.000 86 0% 39 41% 0 - possibly_damaging(0.91) - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118250478 118250478 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020721.1 -1 validated p.N211D 0.000 306 0% 194 33% 0 - benign(0.02) - - NULL CXorf56 63932 genome.wustl.edu 37 X 118694251 118694251 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_022101.3 -1 validated p.E74D 1.000 205 0% 133 48.1% 23 95.6% benign(0) tolerated(0.76) neutral(0.001) NULL UBE2A 7319 genome.wustl.edu 37 X 118717176 118717176 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003336.2 +1 reviewed p.K139 1.000 259 0% 115 14.8% 72 0% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like NKRF 55922 genome.wustl.edu 37 X 118723673 118723673 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017544.3 -1 reviewed p.S572F 0.994 184 0% 112 37.5% 11 0% benign(0.283) deleterious(0.01) deleterious(0.493) HMMPfam_G-patch,HMMSmart_SM00443 UPF3B 65109 genome.wustl.edu 37 X 118985769 118985769 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_080632.1 -1 reviewed p.P75L 0.999 168 0% 88 23.9% 8 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Smg4_UPF3,superfamily_RNA-binding domain RBD RNF113A 7737 genome.wustl.edu 37 X 119004938 119004938 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006978.2 -1 reviewed p.F213 1.000 70 0% 58 51.7% 33 3% - - - HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF90229 RNF113A 7737 genome.wustl.edu 37 X 119005480 119005480 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006978.2 -1 reviewed p.R33C 1.000 53 0% 45 55.6% 22 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL RHOXF1 158800 genome.wustl.edu 37 X 119249468 119249468 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_139282.1 -1 provisional p.Q102R 0.000 14 0% 18 50% 0 - benign(0.011) tolerated(0.2) neutral(0.050) superfamily_Homeodomain_like ZBTB33 10009 genome.wustl.edu 37 X 119387926 119387926 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006777.3 +1 reviewed p.S219Y 0.995 94 0% 71 23.9% 11 0% benign(0.001) tolerated(0.11) neutral(0.272) NULL ZBTB33 10009 genome.wustl.edu 37 X 119388879 119388879 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006777.3 +1 reviewed p.R537C 1.000 135 0% 66 45.5% 8 87.5% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LAMP2 3920 genome.wustl.edu 37 X 119575685 119575685 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001122606.1 -1 reviewed p.C331* 1.000 189 0% 101 34.7% 99 0% - - - HMMPfam_Lamp MCTS1 28985 genome.wustl.edu 37 X 119738719 119738719 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001137554.1 +1 validated p.G4E 1.000 300 0% 105 35.2% 1 0% benign(0.017) tolerated(0.32) neutral(0.025) NULL CT47B1 643311 genome.wustl.edu 37 X 120008796 120008796 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001145718.1 -1 validated p.E243 0.000 57 0% 77 37.7% 0 - - - - NULL GLUD2 2747 genome.wustl.edu 37 X 120182820 120182820 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_012084.3 +1 reviewed p.L428I 1.000 293 0% 200 41.5% 2 50% benign(0.022) deleterious(0.05) neutral(0.346) HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd THOC2 57187 genome.wustl.edu 37 X 122758037 122758037 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000438358 -1 known p.W137R 1.000 408 0% 132 50.8% 24 100% - - - NULL THOC2 57187 genome.wustl.edu 37 X 122759917 122759917 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081550.1 -1 validated p.S968F 1.000 262 0% 103 21.4% 14 0% probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL THOC2 57187 genome.wustl.edu 37 X 122778708 122778708 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081550.1 -1 validated p.S494Y 1.000 267 0% 131 13% 9 22.2% possibly_damaging(0.77) deleterious(0) deleterious(0.730) NULL STAG2 10735 genome.wustl.edu 37 X 123185062 123185062 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042749.1 +1 validated p.R370Q 1.000 148 0% 56 46.4% 8 87.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM-type_fold SH2D1A 4068 genome.wustl.edu 37 X 123504128 123504128 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002351.4 +1 reviewed p.V102I 1.000 328 0% 96 16.7% 0 - probably_damaging(0.992) tolerated(0.27) deleterious(0.481) superfamily_SH2 domain ODZ1 10178 genome.wustl.edu 37 X 123518505 123518505 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014253.3 -1 reviewed p.Y2085 0.408 336 0% 113 40.7% 1 0% - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123526110 123526110 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014253.3 -1 reviewed p.R1820Q 1.000 339 0.3% 123 43.9% 2 0% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL DCAF12L2 340578 genome.wustl.edu 37 X 125298551 125298551 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013628.2 -1 reviewed p.G453C 1.000 41 0% 56 46.4% 0 - possibly_damaging(0.951) deleterious(0.03) deleterious(0.758) NULL DCAF12L2 340578 genome.wustl.edu 37 X 125299114 125299114 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001013628.2 -1 reviewed p.V265A 0.942 11 0% 12 50% 1 0% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMSmart_WD40,superfamily_WD40_like ACTRT1 139741 genome.wustl.edu 37 X 127185453 127185453 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_138289.3 -1 reviewed p.D245Y 1.000 62 0% 28 21.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 SMARCA1 6594 genome.wustl.edu 37 X 128605189 128605189 + Missense_Mutation SNP G G C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003069.3 -1 reviewed p.L853V 1.000 753 0% 229 37.6% 2 0% probably_damaging(0.999) tolerated(0.23) deleterious(0.532) HMMPfam_HAND,superfamily_HAND domain of the nucleosome remodeling ATPase ISWI,superfamily_P-loop containing nucleoside triphosphate hydrolases SMARCA1 6594 genome.wustl.edu 37 X 128631828 128631828 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003069.3 -1 reviewed p.E500* 1.000 269 0% 93 47.3% 3 33.3% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases OCRL 4952 genome.wustl.edu 37 X 128696373 128696373 + Missense_Mutation SNP C C T rs137853263 byCluster TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000276.3 +1 reviewed p.R318C 1.000 250 0% 121 49.6% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like OCRL 4952 genome.wustl.edu 37 X 128724192 128724192 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000276.3 +1 reviewed p.R884H 1.000 291 0.3% 151 42.4% 7 100% benign(0.145) deleterious(0.03) neutral(0.377) HMMSmart_SM00324,superfamily_GTPase activation domain GAP ZDHHC9 51114 genome.wustl.edu 37 X 128946705 128946705 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001008222.2 -1 reviewed p.T256A 1.000 146 0% 68 41.2% 27 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ZDHHC9 51114 genome.wustl.edu 37 X 128946757 128946757 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000433917 -1 known p.P152L 0.963 171 0% 86 32.6% 29 100% - - - NULL BCORL1 63035 genome.wustl.edu 37 X 129173245 129173245 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021946.3 +1 reviewed p.R1536C 1.000 23 0% 18 38.9% 17 100% possibly_damaging(0.477) deleterious(0.04) deleterious(0.506) NULL ELF4 2000 genome.wustl.edu 37 X 129206335 129206335 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001127197.1 -1 reviewed p.N133S 0.976 183 0% 133 47.4% 9 0% benign(0.098) tolerated(0.49) neutral(0.018) NULL AIFM1 9131 genome.wustl.edu 37 X 129264058 129264058 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004208.3 -1 reviewed p.A553T 0.036 65 0% 55 50.9% 91 93.4% benign(0) tolerated(0.46) neutral(0.012) superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain GPR119 139760 genome.wustl.edu 37 X 129518660 129518660 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178471.2 -1 reviewed p.C254 0.828 27 0% 35 34.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 GPR119 139760 genome.wustl.edu 37 X 129518863 129518863 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_178471.2 -1 reviewed p.D187N 0.999 39 0% 39 33.3% 0 - probably_damaging(0.995) tolerated(0.23) deleterious(0.499) HMMPfam_7tm_1,superfamily_SSF81321 RBMX2 51634 genome.wustl.edu 37 X 129536329 129536329 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016024.2 +1 validated p.A36T 1.000 28 0% 34 64.7% 15 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_RNA-binding domain RBD RBMX2 51634 genome.wustl.edu 37 X 129546623 129546623 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_016024.2 +1 validated p.R257M 0.999 96 0% 42 47.6% 34 0% possibly_damaging(0.528) tolerated(0.09) deleterious(0.474) NULL ARHGAP36 158763 genome.wustl.edu 37 X 130217717 130217717 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_144967.3 +1 validated p.H110R 0.502 40 2.5% 44 34.1% 0 - benign(0) tolerated(0.84) neutral(0.001) NULL IGSF1 3547 genome.wustl.edu 37 X 130408127 130408127 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001555.4 -1 reviewed p.V1269M 0.992 200 0% 117 47.9% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL IGSF1 3547 genome.wustl.edu 37 X 130409131 130409131 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001555.4 -1 reviewed p.E1105G 0.018 93 0% 62 45.2% 0 - benign(0.053) tolerated(0.38) neutral(0.021) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IGSF1 3547 genome.wustl.edu 37 X 130415767 130415767 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001555.4 -1 reviewed p.N466 0.906 175 0% 104 39.4% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IGSF1 3547 genome.wustl.edu 37 X 130417063 130417063 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001555.4 -1 reviewed p.F281 0.993 361 0% 143 46.2% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin OR13H1 347468 genome.wustl.edu 37 X 130678185 130678185 + Silent SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001004486.1 +1 provisional p.I46 0.061 230 0% 134 39.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 FRMD7 90167 genome.wustl.edu 37 X 131212265 131212265 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_194277.2 -1 reviewed p.S594T 1.000 213 0% 57 47.4% 0 - probably_damaging(0.955) tolerated(0.08) deleterious(0.699) NULL MBNL3 55796 genome.wustl.edu 37 X 131516289 131516289 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018388.3 -1 reviewed p.H324Y 1.000 58 0% 35 22.9% 2 0% possibly_damaging(0.902) tolerated(0.13) deleterious(0.609) NULL MBNL3 55796 genome.wustl.edu 37 X 131520694 131520694 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018388.3 -1 reviewed p.P306L 1.000 128 0% 48 50% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HS6ST2 90161 genome.wustl.edu 37 X 131842517 131842517 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001077188.1 -1 reviewed p.R318M 1.000 412 0% 113 44.2% 0 - possibly_damaging(0.706) deleterious(0.01) deleterious(0.659) HMMPfam_HS6ST USP26 83844 genome.wustl.edu 37 X 132160874 132160874 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031907.1 -1 reviewed p.E459* 0.068 77 0% 29 44.8% 0 - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP26 83844 genome.wustl.edu 37 X 132161431 132161431 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031907.1 -1 reviewed p.S273I 0.000 139 0% 36 55.6% 0 - benign(0.206) tolerated(0.1) neutral(0.306) NULL USP26 83844 genome.wustl.edu 37 X 132161834 132161834 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_031907.1 -1 reviewed p.S139P 0.000 148 0% 48 12.5% 0 - benign(0.001) tolerated(0.33) neutral(0.024) NULL GPC4 2239 genome.wustl.edu 37 X 132440052 132440052 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001448.2 -1 reviewed p.K336N 1.000 146 0.7% 67 19.4% 32 0% possibly_damaging(0.631) deleterious(0) deleterious(0.665) HMMPfam_Glypican MIR450A1 554214 genome.wustl.edu 37 X 133674414 133674414 + RNA SNP T T G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000362262 -1 known NULL 0.972 613 0% 346 45.1% 0 - - - - - PLAC1 10761 genome.wustl.edu 37 X 133700329 133700329 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_021796.3 -1 provisional p.C128* 0.000 71 0% 42 21.4% 0 - - - - NULL ENSG00000184785 0 genome.wustl.edu 37 X 134125112 134125112 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000330288 +1 known p.S74N 0.002 11 0% 14 64.3% 0 - - - - NULL LOC728470 728470 genome.wustl.edu 37 X 134315071 134315071 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343844.1 -1 model p.A179 0.038 52 0% 13 61.5% 0 - - - - NULL ZNF75D 7626 genome.wustl.edu 37 X 134421702 134421702 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007131.3 -1 reviewed p.C300 0.000 485 0% 180 43.9% 2 100% - - - NULL ZNF449 203523 genome.wustl.edu 37 X 134494957 134494957 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152695.5 +1 reviewed p.G505S 0.971 144 0% 48 33.3% 4 0% probably_damaging(0.998) tolerated(0.49) deleterious(0.485) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DDX26B 203522 genome.wustl.edu 37 X 134679384 134679384 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_182540.4 +1 validated p.E76K 1.000 262 0% 83 45.8% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_vWA-like LOC644717 644717 genome.wustl.edu 37 X 134774776 134774776 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 XM_002343850.1 -1 model p.T730 0.000 58 0% 21 33.3% 0 - - - - NULL SAGE1 55511 genome.wustl.edu 37 X 134983792 134983792 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018666.2 +1 reviewed p.K54N 0.000 375 0% 185 44.3% 2 100% possibly_damaging(0.918) tolerated(0.2) neutral(0.417) NULL SAGE1 55511 genome.wustl.edu 37 X 134993359 134993359 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018666.2 +1 reviewed p.A672T 0.000 95 0% 62 50% 16 0% benign(0) tolerated(0.33) neutral(0.024) NULL SAGE1 55511 genome.wustl.edu 37 X 134994489 134994489 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018666.2 +1 reviewed p.R844I 0.993 172 0% 52 21.2% 2 0% possibly_damaging(0.628) deleterious(0.01) deleterious(0.625) NULL SLC9A6 10479 genome.wustl.edu 37 X 135098895 135098895 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001042537.1 +1 reviewed p.P443L 1.000 471 0.2% 206 43.2% 8 0% probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_Na_H_Exchanger MAP7D3 79649 genome.wustl.edu 37 X 135313873 135313873 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024597.3 -1 reviewed p.E415K 0.000 53 0% 37 51.4% 3 66.6% benign(0.096) deleterious(0.01) neutral(0.413) NULL MAP7D3 79649 genome.wustl.edu 37 X 135322580 135322580 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024597.3 -1 reviewed p.P201S 0.001 221 0% 99 45.5% 3 0% benign(0.001) tolerated(0.82) neutral(0.001) NULL GPR112 139378 genome.wustl.edu 37 X 135426833 135426833 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153834.3 +1 reviewed p.A323V 0.005 244 0% 75 42.7% 0 - possibly_damaging(0.535) tolerated(0.31) neutral(0.208) NULL GPR112 139378 genome.wustl.edu 37 X 135427049 135427049 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153834.3 +1 reviewed p.S395L 0.000 118 0% 37 51.4% 0 - possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) NULL GPR112 139378 genome.wustl.edu 37 X 135432562 135432562 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153834.3 +1 reviewed p.S2233P 0.000 173 0% 67 14.9% 0 - probably_damaging(0.989) tolerated(0.09) deleterious(0.736) NULL GPR112 139378 genome.wustl.edu 37 X 135485424 135485424 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_153834.3 +1 reviewed p.A2866V 0.291 78 0% 52 46.2% 0 - benign(0.075) deleterious(0.04) neutral(0.354) HMMPfam_7tm_2 CD40LG 959 genome.wustl.edu 37 X 135736578 135736578 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000074.2 +1 reviewed p.E112A 0.760 420 0% 99 32.3% 0 - benign(0.001) tolerated(0.27) neutral(0.034) NULL ARHGEF6 9459 genome.wustl.edu 37 X 135795499 135795499 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004840.2 -1 reviewed p.E255* 1.000 347 0% 147 44.9% 0 - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ARHGEF6 9459 genome.wustl.edu 37 X 135814323 135814323 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004840.2 -1 reviewed p.L224I 0.980 195 0% 94 46.8% 1 0% benign(0.009) tolerated(0.24) neutral(0.038) superfamily_SH3-domain GPR101 83550 genome.wustl.edu 37 X 136112680 136112680 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_054021.1 -1 validated p.S385I 0.001 116 0% 100 49% 0 - possibly_damaging(0.528) tolerated(0.25) neutral(0.215) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZIC3 7547 genome.wustl.edu 37 X 136648926 136648926 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003413.3 +1 reviewed p.E26K 1.000 2 0.000 4 1.000 0 - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) NULL ZIC3 7547 genome.wustl.edu 37 X 136649756 136649756 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003413.3 +1 reviewed p.C302 0.996 10 0% 13 30.8% 2 100% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2 ZIC3 7547 genome.wustl.edu 37 X 136651211 136651211 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003413.3 +1 reviewed p.R404H 1.000 46 0% 29 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FGF13 2258 genome.wustl.edu 37 X 137793032 137793032 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004114.3 -1 reviewed p.V45A 1.000 185 0% 173 42.2% 2 0% benign(0.205) deleterious(0.01) neutral(0.426) NULL MCF2 4168 genome.wustl.edu 37 X 138664652 138664652 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099855.1 -1 reviewed p.S979L 0.002 162 0% 34 55.9% 1 0% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL MCF2 4168 genome.wustl.edu 37 X 138697171 138697171 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001099855.1 -1 reviewed p.R471Q 0.967 336 0% 59 50.8% 1 0% possibly_damaging(0.673) tolerated(1) neutral(0.239) NULL ATP11C 286410 genome.wustl.edu 37 X 138850445 138850445 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173694.4 -1 validated p.R792W 1.000 296 0% 100 50% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like ATP11C 286410 genome.wustl.edu 37 X 138856925 138856925 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173694.4 -1 validated p.R717* 1.000 426 0% 163 38% 2 0% - - - superfamily_HAD-like ATP11C 286410 genome.wustl.edu 37 X 138864877 138864877 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173694.4 -1 validated p.R597Q 1.000 205 0% 137 42.3% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP11C 286410 genome.wustl.edu 37 X 138878611 138878611 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173694.4 -1 validated p.D346N 1.000 127 0% 40 27.5% 1 0% probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL CDR1 1038 genome.wustl.edu 37 X 139866205 139866205 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_004065.2 -1 reviewed p.P109 0.000 229 0% 92 45.7% 1 0% - - - NULL MAGEC1 9947 genome.wustl.edu 37 X 140993718 140993718 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005462.4 +1 reviewed p.V176 0.349 282 0% 151 12.6% 0 - - - - NULL MAGEC1 9947 genome.wustl.edu 37 X 140996604 140996604 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005462.4 +1 reviewed p.S1138R 0.001 57 0% 33 36.4% 0 - unknown(0) deleterious(0.01) - NULL SPANXN3 139067 genome.wustl.edu 37 X 142596811 142596811 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009609.2 -1 validated p.E87K 0.000 573 0% 201 40.3% 0 - benign(0.094) deleterious(0) neutral(0.452) HMMPfam_SPAN-X SLITRK4 139065 genome.wustl.edu 37 X 142717037 142717037 + Missense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173078.3 -1 reviewed p.L630I 0.999 114 0% 70 47.1% 1 0% probably_damaging(0.994) tolerated(0.21) deleterious(0.496) NULL SLITRK4 139065 genome.wustl.edu 37 X 142718422 142718422 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173078.3 -1 reviewed p.S168* 1.000 106 0% 64 40.6% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SLITRK4 139065 genome.wustl.edu 37 X 142718835 142718835 + Nonsense_Mutation SNP A A T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173078.3 -1 reviewed p.C30* 0.992 72 0% 40 17.5% 1 100% - - - superfamily_L domain-like SPANXN2 494119 genome.wustl.edu 37 X 142795342 142795342 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009615.1 -1 provisional p.D112 0.002 493 0% 268 29.5% 0 - - - - NULL SLITRK2 84631 genome.wustl.edu 37 X 144904702 144904702 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144003.2 +1 reviewed p.D253 1.000 82 0% 55 49.1% 0 - - - - HMMSmart_SM00082,superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144906465 144906465 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001144003.2 +1 reviewed p.A841V 1.000 52 0% 21 42.9% 1 100% possibly_damaging(0.762) tolerated(0.06) deleterious(0.605) NULL FMR1 2332 genome.wustl.edu 37 X 147030296 147030296 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002024.5 +1 reviewed p.R611C 1.000 148 0.7% 81 51.9% 36 97.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FMR1NB 158521 genome.wustl.edu 37 X 147063095 147063095 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152578.2 +1 validated p.R58Q 0.000 47 0% 41 56.1% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL FMR1NB 158521 genome.wustl.edu 37 X 147106481 147106481 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_152578.2 +1 validated p.Q243 0.000 224 0% 102 39.2% 0 - - - - NULL MAGEA11 4110 genome.wustl.edu 37 X 148798093 148798093 + Missense_Mutation SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005366.4 +1 reviewed p.I316T 0.018 82 0% 47 51.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE MAMLD1 10046 genome.wustl.edu 37 X 149639109 149639109 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005491.3 +1 reviewed p.G422S 0.999 14 0% 20 60% 11 0% benign(0.003) tolerated(1) - NULL MAMLD1 10046 genome.wustl.edu 37 X 149678274 149678274 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000432680 +1 known p.R629W 0.997 302 0% 142 16.2% 8 37.5% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL MTM1 4534 genome.wustl.edu 37 X 149787532 149787532 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000252.2 +1 reviewed p.A122T 1.000 143 0% 57 40.4% 0 - benign(0.007) tolerated(0.12) neutral(0.261) superfamily_SSF50729 MTM1 4534 genome.wustl.edu 37 X 149831987 149831987 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000252.2 +1 reviewed p.E517* 1.000 171 0% 71 38% 0 - - - - superfamily_SSF52799 HMGB3 3149 genome.wustl.edu 37 X 150155746 150155746 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005342.2 +1 validated p.A146T 1.000 103 0% 77 49.4% 72 0% benign(0.003) tolerated(0.06) neutral(0.323) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box PASD1 139135 genome.wustl.edu 37 X 150840783 150840783 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_173493.2 +1 reviewed p.Q522H 0.004 122 0% 62 50% 0 - unknown(0) deleterious(0) - NULL PRRG3 79057 genome.wustl.edu 37 X 150868543 150868543 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_024082.3 +1 validated p.R28H 0.570 29 0% 29 58.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Gla,HMMSmart_GLA,superfamily_VitK_dep_GLA MAGEA4 4103 genome.wustl.edu 37 X 151092416 151092416 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001011548.1 +1 reviewed p.E94K 0.000 33 0% 38 44.7% 0 - benign(0.334) tolerated(0.11) neutral(0.377) NULL GABRQ 55879 genome.wustl.edu 37 X 151821513 151821513 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_018558.2 +1 reviewed p.S556 0.000 48 0% 28 35.7% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM NSDHL 50814 genome.wustl.edu 37 X 152031182 152031182 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001129765.1 +1 reviewed p.V153I 0.000 213 0% 129 37.2% 33 0% benign(0.019) tolerated(0.52) neutral(0.010) HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd ZNF185 7739 genome.wustl.edu 37 X 152089258 152089258 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_007150.3 +1 reviewed p.T207A 0.220 55 0% 37 32.4% 14 7.1% possibly_damaging(0.543) tolerated(0.12) neutral(0.445) NULL PNMA5 114824 genome.wustl.edu 37 X 152159570 152159570 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001103150.1 -1 validated p.V191 0.005 33 0% 38 60.5% 0 - - - - NULL ZNF275 10838 genome.wustl.edu 37 X 152612644 152612644 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001080485.2 +1 validated p.A167 0.000 43 0% 51 37.3% 9 0% - - - NULL HAUS7 55559 genome.wustl.edu 37 X 152722072 152722072 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_017518.6 -1 reviewed p.E172K 0.074 26 0% 25 56% 32 90.6% benign(0.209) tolerated(0.45) neutral(0.033) NULL ATP2B3 492 genome.wustl.edu 37 X 152823591 152823591 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001001344.2 +1 reviewed p.A819T 1.000 41 0% 47 44.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M FAM58A 92002 genome.wustl.edu 37 X 152860036 152860036 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000276345 -1 known p.R131H 0.999 40 2.5% 22 40.9% 54 0% benign(0.004) tolerated(0.11) neutral(0.272) superfamily_Cyclin_like PNCK 139728 genome.wustl.edu 37 X 152936264 152936264 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001039582.3 -1 validated p.D360N 0.879 43 0% 40 20% 16 37.5% possibly_damaging(0.784) tolerated(0.46) neutral(0.305) superfamily_Protein kinase-like (PK-like) ABCD1 215 genome.wustl.edu 37 X 152991292 152991292 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000033.3 +1 reviewed p.R191C 0.996 14 0% 16 56.2% 9 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_ABC_membrane_2 PLXNB3 5365 genome.wustl.edu 37 X 153040000 153040000 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005393.2 +1 reviewed p.A1268 0.000 6 0.000 10 0.400 4 100% - - - NULL PLXNB3 5365 genome.wustl.edu 37 X 153041531 153041531 + Missense_Mutation SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005393.2 +1 reviewed p.G1531C 0.003 9 0.000 9 0.444 5 20% benign(0.053) tolerated(0.07) neutral(0.323) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl PLXNB3 5365 genome.wustl.edu 37 X 153043054 153043054 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000448847 +1 known p.P28L 0.001 19 0% 35 48.6% 10 90% - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNB3 5365 genome.wustl.edu 37 X 153043531 153043531 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005393.2 +1 reviewed p.S1797L 0.960 29 0% 25 44% 8 0% benign(0.19) deleterious(0.04) neutral(0.367) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl SRPK3 26576 genome.wustl.edu 37 X 153046985 153046985 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000430541 +1 known p.A86V 0.000 19 0% 29 51.7% 5 0% - - - superfamily_Protein kinase-like (PK-like) SRPK3 26576 genome.wustl.edu 37 X 153047601 153047601 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_014370.3 +1 reviewed p.P138L 1.000 67 0% 63 49.2% 7 0% probably_damaging(0.978) deleterious(0.04) deleterious(0.769) superfamily_Kinase_like,HMMPfam_Pkinase SSR4 6748 genome.wustl.edu 37 X 153063086 153063086 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 ENST00000447375 +1 known p.A3V 0.000 10 0% 19 42.1% 0 - - - - NULL L1CAM 3897 genome.wustl.edu 37 X 153132186 153132186 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000425.3 -1 reviewed p.P783 0.690 43 0% 32 37.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III L1CAM 3897 genome.wustl.edu 37 X 153133875 153133875 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000425.3 -1 reviewed p.E529K 0.884 55 0% 51 29.4% 0 - benign(0) tolerated(0.06) neutral(0.323) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin RENBP 5973 genome.wustl.edu 37 X 153209390 153209390 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002910.5 -1 reviewed p.F82 0.000 28 0% 32 59.4% 9 0% - - - superfamily_Six-hairpin glycosidases HCFC1 3054 genome.wustl.edu 37 X 153225785 153225785 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005334.2 -1 reviewed p.A329T 1.000 22 0% 19 42.1% 28 17.8% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) superfamily_Galactose oxidase central domain HCFC1 3054 genome.wustl.edu 37 X 153227717 153227717 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005334.2 -1 reviewed p.A251 0.005 47 0% 31 51.6% 24 87.5% - - - superfamily_Galactose oxidase central domain TMEM187 8269 genome.wustl.edu 37 X 153248131 153248131 + Silent SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003492.2 +1 reviewed p.V206 0.992 24 0% 39 35.9% 19 31.5% - - - NULL OPN1LW 5956 genome.wustl.edu 37 X 153420106 153420106 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_020061.4 +1 reviewed p.S212 0.002 66 0% 66 36.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 FLNA 2316 genome.wustl.edu 37 X 153587374 153587374 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001110556.1 -1 reviewed p.Q1484H 1.000 20 0% 28 39.3% 439 7.5% benign(0.002) tolerated(0.09) neutral(0.296) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153593252 153593252 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001110556.1 -1 reviewed p.G589S 0.997 27 0% 24 41.7% 348 5.4% benign(0.162) - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153594808 153594808 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001110556.1 -1 reviewed p.A366T 0.970 33 0% 42 28.6% 274 87.9% benign(0.019) tolerated(0.43) neutral(0.014) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153596403 153596403 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001110556.1 -1 reviewed p.T143 0.984 43 0% 57 35.1% 323 6.8% - - - PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain RPL10 6134 genome.wustl.edu 37 X 153627880 153627880 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006013.3 +1 reviewed p.E45 1.000 193 0% 100 23% 2500 0% - - - HMMPfam_Ribosomal_L16,superfamily_Ribosomal protein L10e RPL10 6134 genome.wustl.edu 37 X 153628224 153628224 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006013.3 +1 reviewed p.L91F 1.000 89 0% 73 31.5% 2405 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ribosomal_L16,superfamily_Ribosomal protein L10e DNASE1L1 1774 genome.wustl.edu 37 X 153631121 153631121 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009932.1 -1 reviewed p.S279N 0.003 18 0% 24 45.8% 20 0% unknown(0) tolerated(0.35) - NULL DNASE1L1 1774 genome.wustl.edu 37 X 153631132 153631132 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001009932.1 -1 reviewed p.S275 0.004 18 0% 25 36% 16 81.2% - - - NULL ATP6AP1 537 genome.wustl.edu 37 X 153662667 153662667 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001183.4 +1 reviewed p.R266 1.000 82 0% 61 37.7% 127 90.5% - - - HMMPfam_ATP-synt_S1 LAGE3 8270 genome.wustl.edu 37 X 153706365 153706365 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_006014.3 -1 reviewed p.R117Q 0.000 34 0% 43 60.5% 128 91.4% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_Pcc1 G6PD 2539 genome.wustl.edu 37 X 153762269 153762269 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000402.3 -1 reviewed p.D281N 1.000 36 0% 40 30% 37 0% benign(0.205) deleterious(0.01) neutral(0.426) HMMPfam_G6PD_C,superfamily_SSF55347 GAB3 139716 genome.wustl.edu 37 X 153924198 153924198 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081573.1 -1 reviewed p.I508 1.000 408 0% 157 35.7% 0 - - - - NULL GAB3 139716 genome.wustl.edu 37 X 153925442 153925442 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081573.1 -1 reviewed p.E464 0.322 107 0.9% 38 44.7% 0 - - - - NULL GAB3 139716 genome.wustl.edu 37 X 153941542 153941542 + Missense_Mutation SNP A A C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001081573.1 -1 reviewed p.L179R 0.785 127 0% 76 42.1% 0 - benign(0.027) tolerated(0.47) neutral(0.012) NULL MPP1 4354 genome.wustl.edu 37 X 154020090 154020090 + Silent SNP G G T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002436.3 -1 reviewed p.S93 0.031 200 0% 110 36.4% 3 0% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like F8 2157 genome.wustl.edu 37 X 154132335 154132335 + Silent SNP T T C novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000132.3 -1 reviewed p.L1948 0.360 221 0% 82 54.9% 0 - - - - superfamily_Cupredoxins,HMMPfam_Cu-oxidase_2 F8 2157 genome.wustl.edu 37 X 154176040 154176040 + Silent SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000132.3 -1 reviewed p.V682 1.000 335 0% 199 41.2% 1 0% - - - superfamily_Cupredoxins F8 2157 genome.wustl.edu 37 X 154194856 154194856 + Silent SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_000132.3 -1 reviewed p.S372 0.210 205 0% 100 38% 0 - - - - NULL VBP1 7411 genome.wustl.edu 37 X 154448563 154448563 + Missense_Mutation SNP A A G novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_003372.5 +1 reviewed p.N66S 0.999 114 0% 62 43.5% 38 0% benign(0.022) tolerated(0.24) neutral(0.038) HMMPfam_Prefoldin,superfamily_Prefoldin RAB39B 116442 genome.wustl.edu 37 X 154493497 154493497 + Missense_Mutation SNP C C T novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_171998.2 -1 reviewed p.R26H 1.000 20 0% 25 20% 2 0% benign(0.064) tolerated(0.15) neutral(0.245) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CLIC2 1193 genome.wustl.edu 37 X 154507296 154507296 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001289.4 -1 reviewed p.R214C 1.000 202 0% 85 30.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Glutathione S-transferase (GST) C-terminal domain CLIC2 1193 genome.wustl.edu 37 X 154508587 154508587 + Missense_Mutation SNP G G A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_001289.4 -1 reviewed p.R145C 0.999 157 0% 54 44.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Glutathione S-transferase (GST) C-terminal domain SPRY3 10251 genome.wustl.edu 37 X 155003614 155003614 + Silent SNP C C T rs192786119 by1000genomes TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_005840.1 +1 validated p.Y27 1.000 156 0% 137 43.8% 4 50% - - - NULL IL9R 3581 genome.wustl.edu 37 X 155232664 155232664 + Missense_Mutation SNP C C A novel TCGA-B5-A11E-01A-11D-A10M-09 TCGA-B5-A11E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be64434-9064-44c8-9391-80788c6e993a 980f8fbb-2c31-45c3-b7be-61a695b82bc3 NM_002186.2 +1 reviewed p.S41Y 0.014 225 0% 199 12.6% 0 - possibly_damaging(0.855) deleterious(0) deleterious(0.774) NULL